Cognitive impairment in neuromuscular disorders

Muscle and Nerve

Volumn 34, Issue 1, 2006, Pages 16-33

  D'Angelo, Maria Grazia ^a   Bresolin, Nereo ^b  

^a SCIENTIFIC INSTITUTE   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

Author keywords

Adult polyglucosan body disease; Amyotrophic lateral sclerosis; Becker muscular dystrophy; Cognitive impairment; Congenital muscular dystrophy; Duchenne muscular dystrophy; Facioscapulohumeral dystrophy; Limb girdle muscular dystrophy

Indexed keywords

ADULT POLYGLUCOSAN BODY DISEASE; AMYOTROPHIC LATERAL SCLEROSIS; BECKER MUSCULAR DYSTROPHY; CENTRAL NERVOUS SYSTEM; CLINICAL FEATURE; COGNITIVE DEFECT; CORRELATION COEFFICIENT; DUCHENNE MUSCULAR DYSTROPHY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; GENETICS; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MENTAL DISEASE; MITOCHONDRIAL ENCEPHALOMYOPATHY; MUSCULAR DYSTROPHY; MYOPATHY; MYOTONIC DYSTROPHY; NERVOUS SYSTEM FUNCTION; NEUROMUSCULAR DISEASE; NONHUMAN; PERIPHERAL NERVOUS SYSTEM; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVIEW; SPINAL MUSCULAR ATROPHY; TISSUE SPECIFICITY;

ANIMALS; COGNITION DISORDERS; HUMANS; MUSCULAR DISEASES; NEUROMUSCULAR DISEASES;

EID: 33745728934     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.20535     Document Type: Review

References (231)

1. Abe K, Fujimura H, Toyooka K, Sakoda S, Yorifuji S, Yanagihara T. Cognitive function in amyotrophic lateral sclerosis. J Neurol Sci 1997;148:95-100.
2. Abrahams S, Goldstein LH, Lloyd CM, Brooks DJ, Leigh PN. Cognitive deficits in non-demented amyotrophic lateral sclerosis patients: a neuropsychological investigation. J Neurol Sci 1995;129(suppl):54-55.
3. Abrahams S, Goldstein LH, Kew JJ, Brooks DJ, Lloyd CM, Frith CD, et al. Frontal lobe dysfunction in amyotrophic lateral sclerosis. A PET study. Brain 1996;119:2105-2120.
4. Abrahams S, Goldstein LH, Al-Chalabi A, Pickering A, Morris RG, Passingham RE, et al. Relation between cognitive dysfunction and pseudobulbar palsy in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 1997;62:464-472.
5. Abrahams S, Goldstein LH, Simmons A, Brammer M, Williams SC, Giampietro V, et al. Word retrieval in amyotrophic lateral sclerosis: a functional magnetic resonance imaging study. Brain 2004;127:1507-1517.
6. Abrahams S, Goldstein LH, Suckling J, Nig V, Simmons A, Chitnis X, et al. Frontotemporal white matter changes in amyotrophic lateral sclerosis. J Neurol 2005;252:321-331.
7. al-Qudah AA, Kobayashi J, Chuang S, Dennis M, Ray P. Etiology of intellectual impairment in Duchenne muscular dystrophy. Pediatr Neurol 1990;6:57-59.
8. Anderson SW, Routh DK, Ionasescu VV. Serial position memory of boys with Duchenne muscular dystrophy. Dev Med Child Neurol 1988;30:328-333.
9. Anderson VE, Cairns NJ, Leigh PN. Involvement of the amygdala, dentate and hippocampus in motor neuron disease. J Neurol Sci 1995;129:75-78.
10. Annane D, Fiorelli M, Mazoyer B, Pappata S, Eymard B, Radvanyi H, et al. Impaired cerebral glucose metabolism in myotonic dystrophy: a triplet-size dependent phenomenon. Neuromuscul Disord 1998;8:39-45.
11. Austin RC, Howard PL, D'Souza VN, Klamut HJ, Ray PN. Cloning and characterization of alternatively spliced isoforms of Dp71. Hum Mol Genet 1995;4:1475-1483.
12. Austin RC, Morris GE, Howard PL, Klamut HJ, Ray PN. Expression and synthesis of alternatively spliced variants of Dp71 in adult human brain. Neuromuscul Disord 2000;10:187-193.
13. Balasubramanyam A, Iyer D, Stringer JL, Beaulieu C, Potvin A, Neumeyer AM, et al. Developmental changes in expression of myotonic dystrophy protein kinase in the rat central nervous system. J Comp Neurol 1998;394:309-325.
14. Bardoni A, Sironi M, Felisari G, Comi GP, Bresolin N: Absence of brain Dp140 isoform and cognitive impairment in Becker muscular dystrophy. Lancet 1999;353:897-898.
15. Beltran-Valero de Bernabe D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 2002;71:1033-1043.
16. Berkovic SF, Carpenter S, Evans A, Karpati G, Shoubridge EA, Andermann F, et al. Myoclonus epilepsy and ragged-red fibres (MERRF). A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study. Brain 1989;112:1231-1260.
17. Berul CI, Maguire CT, Aronovitz MJ, Greenwood J, Miller C, Gehrmann J, et al. DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model. J Clin Invest 1999;103:R1-7.
18. Billard C, Gillet P, Signoret JL, Uicaut E, Bertrand P, Fardeau M, et al. Cognitive functions in Duchenne muscular: a reappraisal and comparison with spinal muscular atrophy. Neuromuscul Disord 1992;2:371-378.
19. Billard C, Gillet P, Barthez MA, Hommet C, Bertrand P. Reading ability and processing in Duchenne muscular dystrophy and spinal muscular atrophy. Devel Med Child Neurol 1998;40:12-20.
20. Bird TD, Follett C, Griep E. Cognitive and personality functions in myotonic muscular dystrophy. J Neurol Neurosurg Psychiatry 1983;46:971-980.
21. Black FW. Intellectual ability as related to age and stage of disease in muscular dystrophy: a brief note. J Psychol 1973;84:333-334.
22. Blake DJ, Tinsley JM, Davies KE, Knight AE, Winder SJ, Kendrick-Jones J. Coiled-coil regions in the carboxy-terminal domains of dystrophin and related proteins: potentials for protein-protein interactions. Trends Biochem Sci 1995;20:133-135.
23. Blake DJ, Nawrotzki R, Loh NY, Gorecki DC, Davies KE. beta-dystrobrevin, a member of the dystrophin-related protein family. Proc Natl Acad Sci USA 1998;95:241-246.
24. Bliss TVP, Collingridge GL. A synaptic model of memory: long-term potentiation in the hippocampus. Nature 1993;361:31-39.
25. Bradley WG, Jones MZ, Mussini JM, Fawcett PR. Becker-type muscular dystrophy. Muscle Nerve 1978;1:111-132.
26. Bresolin N, Castelli E, Comi GP, Felisari G, Bardoni A, Perani D, et al. Cognitive impairment in Duchenne muscular dystrophy. Neuromuscul Disord 1994;4:359-369.
27. Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet 2001;69:1198-1209.
28. Brook JD, McCurrach ME, Harley HG, et al. Molecular basis of myotonic dystrophy: expansion of trinucleotide (CGT) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992;68:799-808.
29. Brumback RA. Disturbed personality and psychosocial adjustment in myotonic dystrophy: relationship to intellectual/cognitive function and underlying affective disorder (depression). Psychol Rep 1987;60:783-796.
30. Bulfield G, Siller WG, Wight PA, Moore KJ. X chromosome-linked muscular dystrophy (mdx) in the mouse. Proc Natl Acad Sci USA 1984;81:1189-1192.
31. Bungener C, Jouvent R, Delaporte C. Psychopathological and emotional deficits in myotonic dystrophy. J Neurol Neurosurg Psychiatry 1998;65:353-356.
32. Bushby KM, Gardner-Medwin D, Nicholson LV, Johnson MA, Haggerty ID, Cleghorn NJ, et al. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities. J Neurol 1993;240:105-112.
33. Byers TJ, Lidov HG, Kunkel LM. An alternative dystrophin transcript specific to peripheral nerve. Nat Genet 1993;4:77-81.
34. Cagliani R, Comi GP, Tancredi L, Sironi M, Fortunato F, Giorda R, et al. Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria. Neuromuscul Disord 2001;11:389-394.
35. Carelli V, Vergani L, Bernazzi B, Zampieron C, Bucchi L, Valentino M, et al. Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy. Biochim Biophys Acta 2002;1588:7-14.
36. Carter GT, Abresch RT, Fowler WM Jr, Johnson ER, Kilmer DD, McDonald CM. Profiles of neuromuscular diseases. Spinal muscular atrophy. Am J Phys Med Rehabil 1995;74(suppl):S150-159.
37. Censori B, Provinciali L, Danni M, Chiaramoni L, Maricotti M, Foschi N, et al. Brain involvement in myotonic dystrophy: MRI features and their relationship to clinical and cognitive conditions. Acta Neurol Scand 1994;90:211-217.
38. Chang L, Anderson T, Migneco OA, Boone K, Mehringer CM, Villanueva-Meyer J, et al. Cerebral abnormalities in myotonic dystrophy. Cerebral blood flow, magnetic resonance imaging, and neuropsychological tests. Arch Neurol 1993;50:917-923.
39. Chelly J, Hamard G, Koulakoff A, Kaplan JC, Kahn A, Berwald-Netter Y. Dystrophin gene transcribed from different promoters in neuronal and glial cells. Nature 1990;344:64-65.
40. Chiyonobu T, Sasaki J, Nagai Y, Takeda S, Funakoshi H, Nakamura T, et al. Effects of fukutin deficiency in the developing mouse brain. Neuromuscul Disord 2005;15:416-426.
41. Chudley AE, Rozdilsky B, Houston CS, Becker LE, Knoll JH. Multicore disease in sibs with severe mental retardation, short stature, facial anomalies, hypoplasia of the pituitary fossa, and hypogonadotrophic hypogonadism. Am J Med Genet 1985;20:145-158.
42. Cohn RD, Campbell KP. Molecular basis of muscular dystrophies. Muscle Nerve 2000;23:1456-1471.
43. Cotton S, Voudouris NJ, Greenwood KM. Intelligence and Duchenne muscular dystrophy: full-scale, verbal, and performance intelligence quotients. Dev Med Child Neurol 2001;43:497-501.
44. Culligan KG, Mackey AJ, Finn DM, Maguire PB, Ohlendieck K. Role of dystrophin isoforms and associated proteins in muscular dystrophy. Int J Mol Med 1998;2:639-648.
45. Culligan K, Glover L, Dowling P, Ohlendiek K. Brain dystrophin- glycoprotein complex: persistent expression of β-dystroglycan, impaired oligomerization of Dp71 and up-regulation of utrophins in animal models of muscular dystrophy. BMC Cell Biol 2001;2:2.
46. Cuthill J, Gattereau A, Viguie F. Myotonic dystrophy of Steinert: are anxiety and depression necessarily concomitants? Can J Psychiatry 1988;33:203-206.
47. Davis BM, McCurrach ME, Taneja KL, Singer RH, Housman DE. Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts. Proc Natl Acad Sci USA 1997;94:7388-7393.
48. Delaporte C. Personality patterns in patients with myotonic dystrophy. Arch Neurol 1998;55:635-640.
49. Desmond JE, Gabrieli JD, Wagner AD, Ginier BL, Glover GH. Lobular patterns of cerebellar activation in verbal working-memory and finger-tapping tasks as revealed by functional MRI. J Neurosci 1997;17:9675-9685.
50. Di Costanzo A, Di Salle F, Santoro L, Bonavita V, Tedeschi G. Dilated Virchow-Robin spaces in myotonic dystrophy: frequency, extent and significance. Eur Neurol 2001;46:131-139.
51. Di Costanzo A, Di Salle F, Santoro L, Bonavita V, Tedeschi G. Brain MRI features of congenital- and adult-form myotonic dystrophy type 1: case-control study. Neuromuscul Disord 2002;12:476-483.
52. Dobyns WB, Pagon RA, Armstrong D, Curry CJ, Greenberg F, Grix A, et al. Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet 1989;32:195-210.
53. Dorman C, Desnoyers Hurley A, D'Avignon J. Language and learning disorders in older boys with Duchenne muscular dystrophy. Devel Med Child Neurol 1988;30:316-327.
54. Dubowitz V. Special Centennial Workshop-101st ENMC International Workshop: Therapeutic possibilities in Duchenne muscular dystrophy. Neuromuscul Disord 2002;12:421-431.
55. Dubowitz V, Crome L. The central nervous system in Duchenne muscular dystrophy. Brain 1969;92:805-808.
56. Duchenne de Boulogne GBA. Reserches sur la paralysie musculaire pseudo-hypertrophique, ou paralysie myo-sclerosique. In: Wilkins RH, Brody IA, editors. Neurological classics. New York: Johnson Reprint; 1973. p 50-67.
57. Duncan DB, Herholz K, Kugel H, Roth B, Ruitenbeek W, Heindel W, et al. Positron emission tomography and magnetic resonance spectroscopy of cerebral glycolysis in children with congenital lactic acidosis. Ann Neurol 1995;37:351-358.
58. Dyken PR, Harper PS. Congenital dystrophia myotonica. Neurology 1973;23:465-473.
59. Ebralidze A, Wang Y, Petkova V, Ebralidse K, Junghans RP. RNA leaching of transcription factors disrupts transcription in myotonic dystrophy. Science 2004;303:383-387.
60. Emery AE. Clinical and molecular studies in Duchenne muscular dystrophy. Prog Clin Biol Res 1989;306:15-28.
61. Endo A, Motonaga K, Arahata K, Harada K, Yamada T, Takashima S. Developmental expression of myotonic dystrophy protein kinase in brain and its relevance to clinical phenotype. Acta Neuropathol 2000;100:513-520.
62. Eslinger PJ. The anatomic basis of utilisation behaviour: a shift from frontal-parietal to intra-frontal mechanisms. Cortex 2002;38:273-276.
63. Felisari G, Martinelli Boneschi F, Bardoni A, Sironi M, Comi GP, Robotti M, et al. Loss of Dp140 dystrophin and intellectual impairment in Duchenne dystrophy. Neurology 2000;55:559-564.
64. Fiorelli M, Duboc D, Pappata S, Tran-Dinh S, Eymard B, Fardeau M. Intracranial arachnoid cysts in myotonic dystrophy. Neuroradiology 1991;33:258-259.
65. Fiorelli M, Duboc D, Mazoyer BM, Blin J, Eymard B, Fardeau M, et al. Decreased cerebral glucose utilization in myotonic dystrophy. Neurology 1992;42:91-94.
66. Florek M, Karolak S. Intelligence level of patients with the Duchenne type of progressive muscular dystrophy (pmd-d). Eur J Pediatr 1977;126:275-282.
67. Frank B, Haas J, Heinze HJ, Stark E, Munte TF. Relation of neuropsychological and magnetic resonance findings in amyotrophic lateral sclerosis: evidence for subgroups. Clin Neurol Neurosurg 1997;99:79-86.
68. 123I-IMP SPECT findings in mitochondrial encephalomyopathies. Brain Dev 1995;17:89-94.
69. Fukuyama Y, Osawa M, Suzuki H. Congenital progressive muscular dystrophy of the Fukuyama type-clinical, genetic and pathological considerations. Brain Dev 1981;3:1-29.
70. Funakoshi M, Goto K, Arahata K. Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy. Neurology 1998;50:1791-1794.
71. Garcia JJ, Ogilvie I, Robinson BH, Capaldi RA. Structure, functioning, and assembly of the ATP synthase in cells from patients with the T8993G mitochondrial DNA mutation. Comparison with the enzyme in Rho(0) cells completely lacking mtDNA. J Biol Chem 2000;275:11075-11081.
72. Gonzalez E, Montanez, C, Ray PN, Howard PL, Garcia-Sierra F, Mornet D, et al. Alternative splicing regulates the nuclear or cytoplasmic localization of dystrophin Dp71. FEBS Lett 2000;482:209-214.
73. Goosseus K, Steyaert J, De Die-Smulders C, Willekens D, Fryns JP. Emotional and behavioral profile and child psychiatric diagnosis in the childhood type of myotonic dystrophy. Genet Couns 2000;11:317-327.
74. Gorecki DC, Abdulrazzak H, Lukasiuk K, Barnard EA. Differential expression of syntrophins and analysis of alternatively spliced dystrophin transcripts in the mouse brain. Eur J Neurosi 1997;9:965-976.
75. Guglieri M, Magri F, Comi GP. Molecular etiopathogenesis of limb girdle muscular and congenital muscular dystrophies: boundaries and contiguities. Clin Chim Acta 2005;361:54-79.
76. Haenggi T, Soontornmalai A, Schaub MC, Fritschy JM. The role of utrophin and Dp71 for assembly of different dystrophin-associated protein complexes (DPCs) in the choroid plexus and microvasculature of the brain. Neuroscience 2004;129:403-413.
77. Hamblet NS, Castora FJ. Elevated levels of the Kearns-Sayre syndrome mitochondrial DNA deletion in temporal cortex of Alzheimer's patients. Mutat Res 1997;379:253-262.
78. Harley HG, Rundle SA, Reardon W, Myring J, Crow S, Brook JD, et al. Unstable DNA sequence in myotonic dystrophy. Lancet 1992;339:1125-1128.
79. Harper PS. Myotonic dystrophy, 2nd edition. Philadelphia: Saunders; 1989.
80. Hausmanowa-Petrusewicz I, Askanas W, Badurska B, Emeryk B, Fidzianska A, Garbalinska W, et al. Infantile and juvenile spinal muscular atrophy. J Neurol Sci 1968;6:269-287.
81. Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissenbach J, Tome FM, et al. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 1995;11:216-218.
82. Henry MD, Campbell KP. Dystroglycan inside and out. Curr Opin Cell Biol 1999;11:602-607.
83. Hinton VJ, DeVivo DC, Nereo NE, Goldstein E, Stern Y. Poor verbal working memory across intellectual level in boys with Duchenne dystrophy. Neurology 2000;54:2127-2132.
84. Holt IJ, Harding AE, Cooper JM, Schapira AH, Toscano A, Clark JB, et al. Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA. Ann Neurol 1989;26:699-708.
85. Holt IJ, Harding AE, Petty RK, Morgan-Hughes JA. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990;46:428-433.
86. Huber SJ, Kissel JT, Shuttleworth EC, Chakeres DW, Clapp LE, Brogan MA. Magnetic resonance imaging and clinical correlates of intellectual impairment in myotonic dystrophy. Arch Neurol 1989;46:536-540.
87. Hudson AJ. Amyotrophic lateral sclerosis and its association with dementia, parkinsonism and other neurological disorders: a review. Brain 1981;104:217-247.
88. Inagaki T, Ishino H, Seno H, Ohguni S, Tanaka J, Kato Y. Psychiatric symptoms in a patient with diabetes mellitus associated with point mutation in mitochondrial DNA. Biol Psychiatry 1997;42:1067-1069.
89. Ishitsu T, Miike T, Kitano A, Haraguchi Y, Ohtani Y, Matsuda I, et al. Heterogeneous phenotypes of mitochondrial encephalomyopathy in a single kindred. Neurology 1987;37:1867-1869.
90. Jagadha V, Becker LE. Brain morphology in Duchenne muscular dystrophy: a Golgi study. Pediatr Neurol 1988;4:87-92.
91. Jansen G, Groenen PJ, Bachner D, Jap PH, Coerwinkel M, Oerlemans F, et al. Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nat Genet 1996;13:316-324.
92. Jiang H, Mankodi A, Swanson MS, Moxley RT, Thornton CA. Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum Mol Genet 2004;13:3079-3088.
93. Jones KJ, Morgan G, Johnston H, Tobias V, Ouvrier RA, Wilkinson I, et al. The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review. J Med Genet 2001;38:649-657.
94. Jun AS, Brown MD, Wallace DG. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci USA 1994;91:6206-6210.
95. Kanadia RN, Johnstone KA, Mankodi A, Lungu C, Thornton CA, Esson D, et al. A muscleblind knockout model for myotonic dystrophy. Science 2003;302:1978-1980.
96. Karagan NJ, Richman LC, Sorensen JP. Analysis of verbal disability in Duchenne muscular dystrophy. J Nerv Ment Dis 1980;168:419-423.
97. Karpati G, Arnold D, Matthews P, Carpenter S, Andermann F, Shoubridge E. Correlative multidisciplinary approach to the study of mitochondrial encephalomyopathies. Rev Neurol 1991;147:455-461.
98. Kartsounis LD, Troung DD, Morgan-Hughes JA, Harding AE. The neuropsychological features of mitochondrial myopathies and encephalomyopathies. Arch Neurol 1992;49:158-160.
99. Kato S, Hayashi H, Yagishita A. Involvement of the frontotemporal lobe and limbic system in amyotrophic lateral sclerosis: as assessed by serial computed tomography and magnetic resonance imaging. J Neurol Sci 1993;116:52-58.
100. Kato T, Stine OC, McMahon FJ, Crowe RR. Increased levels of a mitochondrial DNA deletion in the brain of patients with bipolar disorder. Biol Psychiatry 1997;42:871-875.
101. Kew JJ, Goldstein LH, Leigh PN, Abrahams S, Cosgrave N, Passingham RE, et al. The relationship between abnormalities of cognitive function and cerebral activation in amyotrophic lateral sclerosis. A neuropsychological and positron emission tomography study. Brain 1993;116:1399-1423.
102. Kew JJ, Leigh PN, Playford ED, Passingham RE, Goldstein LH, Frackowiak RS, et al. Cortical function in amyotrophic lateral sclerosis. A positron emission tomography study. Brain 1993;116:655-680.
103. Kiernan JA, Hudson AJ. Frontal lobe atrophy in motor neuron diseases. Brain 1994;117:747-757.
104. Kim JJ, Armstrong DD, Fishman MA. Multicore myopathy, microcephaly, aganglionosis, and short stature. J Child Neurol 1994;9:275-257.
105. Klesert TR, Cho DH, Clark JI, Maylie J, Adelman J, Snider L, Yuen EC, et al. Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Nat Genet 2000;25:105-109.
106. A receptors in mice lacking dystrophin (mdx mice). Eur J Neurosci 1999;11:4457-4462.
107. Koenig M, Beggs AH, Moyer M, Scherpf S, Heindrich K, Bettecken T, et al. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet 1989;45:498-506.
108. Kornblum C, Reul J, Kress W, Grothe C, Amanatidis N, Klockgether T, et al. Cranial magnetic resonance imaging in genetically proven myotonic dystrophy type 1 and 2. J Neurol 2004;251:710-714.
109. Kotchoubey B, Lang S, Winter S, Birbaumer N. Cognitive processing in completely paralyzed patients with amyotrophic lateral sclerosis. Eur J Neurol 2003;10:551-558.
110. Kramarcy NR, Vidal A, Froehner SC, Sealock R. Association of utrophin and multiple dystrophin short forms with the mammalian M(r) 58,000 dystroph in-associated protein (syntrophin). J Biol Chem 1994;269:2870-2876.
111. Kuo HC, Hsiao KM, Chen CJ, Hsieh YC, Huang CC. Brain magnetic resonance image changes in a family with congenital and classic myotonic dystrophy. Brain Dev 2005;27:291-296.
112. A receptors in the regulation of sleep: initial sleep responses to peripherally administered modulators and agonists. Sleep 1999;22:33-42.
113. Lederfein D, Yaffe D, Nudel U. A housekeeping type promoter, located in the 3′ region of the Duchenne muscular dystrophy gene, controls the expression of Dp71, a major product of the gene. Hum Mol Genet 1993;2:1883-1888.
114. Lee JS, Pfund Z, Juhasz C, Behen ME, Muzik O, Chugani DC, et al. Altered regional brain glucose metabolism in Duchenne muscular dystrophy: a PET study. Muscle Nerve 2002;26:506-512.
115. Leibowitz D, Dubowitz V. Intellect and behavior in Duchenne muscular dystrophy. Dev Med Child Neurol 1981;23:577-590.
116. Lidov HG, Selig S, Kunkel LM. Dp140: a novel 140 kDa CNS transcript from the dystrophin locus. Hum Mol Genet 1995;4:329-333.
117. Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001;293:864-867.
118. Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, et al. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation ol alpha-dystroglycan. Hum Mol Genet 2003;12:2853-2861.
119. Lossos A, Barash V, Soffer D, Argov Z, Gomori M, Ben-Nariah Z, et al. Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients. Ann Neurol 1991;30:655-662.
120. Lossos A, Meiner Z, Barash V, Soffer D, Schlesinger I, Abramsky O, et al. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. Ann Neurol 1998;44:867-872.
121. Ludolph AC, Langen KJ, Regard M, Herzog H, Kemper B, Kuwert T, et al. Frontal lobe function in amyotrophic lateral sclerosis: a neuropsychologic and positron emission tomography study. Acta Neurol Scand 1992;85:81-89.
122. Lyle R, Wright TJ, Clark LN, Hewitt JE. The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes. Genomics 1995;28:389-397.
123. Magarinos AM, Verdugo JM, McEwen BS. Chronic stress alters synaptic terminal structure in hippocampus. Proc Natl Acad Sci USA 1997;94:14002-14008.
124. Marin O, Plump AS, Flames N, Sanchez-Camacho C, Tessier-Lavigne M, Rubenstein JL. Directional guidance of interneuron migration to the cerebral cortex relies on subcortical Slit1/2-independent repulsion and cortical attraction. Development 2003;130:1889-1901.
125. Marquez FG, Cisneros B, Garcia F, Ceja V, Velazquez F, Depardon F, et al. Differential expression and subcellular distribution of dystrophin Dp71 isoforms during differentiation process. Neuroscience 2003;118:957-966.
126. Massman PJ, Sims J, Cooke N, Haverkamp LJ, Appel V, Appel SH. Prevalence and correlates of neuropsychological deficits in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 1996;61:450-455.
127. McDonald TD, Faust PL, Bruno C, DiMauro S, Goldman JE. Polyglucosan body disease simulating amyotrophic lateral sclerosis. Neurology 1993;43:785-790.
128. Mehler MF, Haas KZ, Kessler JA, Stanton PK, Enhanced sensitivity of hippocampal pyramidal neurons from mdx mice to hypoxia-induced loss of synaptic transmission. Proc Natl Acad Sci USA 1992;89:2461-2465.
129. Mehler MF. Brain dystrophin, neurogenetics and mental retardation. Brain Res Brain Res Rev 2000;32:277-307.
130. Meola G, Sansone V, Perani D, Colleluori A, Cappa S, Cotelli M, et al. Reduced cerebral blood flow and impaired visual-spatial function in proximal myotonic myopathy. Neurology 1999;53:1042-1050.
131. Meola G, Sansone V, Perani D, Scarone S, Cappa S, Dragoni C, et al. Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2). Neuromuscul Disord 2003;13:813-821.
132. Mercuri E, Sewry C, Brown SC, Muntoni F. Congenital muscular dystrophies. Semin Pediatr Neurol 2002;9:120-131.
133. Mercuri E, Yuva Y, Brown SC, Brockington M, Kinali M, Jungbluth H, et al. Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study. Neurology 2002;58:1354-1359.
134. Mercuri E, Brockington M, Straub V, Quijano-Roy S, Yuva Y, Herrmann R, et al. Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann Neurol 2003;53:537-542.
135. Michikawa Y, Mazzucchelli F, Bresolin N, Scarlato G, Attardi G. Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication. Science 1999;286:774-779.
136. Miladi N, Bourguignon JP, Hentati F. Cognitive and psychological profile of a Tunisian population of limb girdle muscular dystrophy. Neuromuscul Disord 1999;9:352-354.
137. Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, et al. Recruitment of human muscleblind proteins to (CUG) (n) expansions associated with myotonic dystrophy. EMBO J 2000;19:4439-4448.
138. Misuri G, Lanini B, Gigliotti F, Iandelli I, Pizzi A, Bertolini MG, et al. Mechanism of CO(2) retention in patients with neuromuscular disease. Chest 2000;117:447-453.
139. Miura K, Kumagai T, Matsumoto A, Iriyama E, Watanabe K, Goto K, et al. Two cases of chromosome 4q35-linked early onset facioscapulohumeral muscular dystrophy with mental retardation and epilepsy. Neuropediatrics 1998;29:239-241.
140. Modoni A, Silvestri G, Pomponi MG, Mangiola F, Tonali PA, Marra C. Characterization of the pattern of cognitive impairment in myotonic dystrophy type 1. Arch Neurol 2004;61:1943-1947.
141. Moghadaszadeh B, Desguerre I, Topaloglu H, Muntoni F, Pavek S, Sewry C, et al. Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36. Am J Hum Genet 1998;62:1439-1445.
142. Moizard MP, Billard C, Toutain A, Berret F, Marmin N, Moraine C. Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy? Am J Med Genet 1998;80:32-41.
143. Moizard MP, Toutain A, Fournier D, Berret F, Raynaud M, Billard C, et al. Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening. Eur J Hum Genet 2000;8:552-556.
144. Molnar MJ, Valikovics A, Molnar S, Trou L, Dioszeghy P, Mechler F, et al. Cerebral blood flow and glucose metabolism in mitochondrial disorders. Neurology 2000;55:544-548.
145. Moore SA, Saito F, Chen J, Michele DE, Henry MD, Messing A, et al. Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature 2002;418:422-425.
146. Morgan-Hughes JA, Hayes DJ, Clark JB, Landon DN, Swash M, Stark RJ, et al. Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain. Brain 1982;105:553-582.
147. Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neural 2003;2:731-740.
148. Nakano I, Funahashi M, Takada K, Toda T. Are breaches in the glia limitans the primary cause of the micropolygyria in Fukuyama-type congenital muscular dystrophy (FCMD)? Pathological study of the cerebral cortex of an FCMD fetus. Acta Neuropathol 1996;91:313-321.
149. Neary D, Snowden JS, Mann DM, Northen B, Goulding PJ, Macdermott N. Frontal lobe dementia and motor neuron disease. J Neurol Neurosurg Psychiatry 1990;53:23-32.
150. Neary D. Neuropsychological aspects of frontotemporal degeneration. Ann NY Acad Sci 1995;769:15-22.
151. North KN, Miller G, Iannaccone ST, Clemens PR, Chad DA, Bella I, et al. Cognitive dysfunction as a major presenting feature of Becker's muscular dystrophy. Neurology 1996;46:461-465.
152. Odawara M, Arinami T, Tachi Y, Hamaguchi H, Toru M, Yamashita K. Absence of association between a mitochondrial DNA mutation at nucleotide position 3243 and schizophrenia in Japanese. Hum Genet 1998;102:708-709.
153. Ogasawara A. Downward shift in IQ in persons with Duchenne muscular dystrophy compared to those with spinal muscular atrophy. Am J Ment Retard 1989;93:544-547.
154. Ortiz RG, Newman NJ, Shoffner JM, Kaufman AE, Koontz DA, Wallace DC. Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation. Arch Ophthalmol 1993;111:1525-1530.
155. Otten AD, Tapscott SJ. Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure. Proc Natl Acad Sci USA 1995;92:5465-5469.
156. Palmer BW, Boone KB, Chang L, Lee A, Black S. Cognitive deficits and personality patterns in maternally versus paternally inherited myotonic dystrophy. J Clin Exp Neuropsychol 1994;16:784-795.
157. Pan TC, Zhang RZ, Sudano DG, Marie SK, Bonnemann CG, Chu ML. New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. Am J Hum Genet 2003;73:355-369.
158. Peavy GM, Herzog AG, Rubin NP, Mesulam MM. Neuropsychological aspects of dementia of motor neuron disease: a report of two cases. Neurology 1992;42:1004-1008.
159. Pegoraro E, Marks H, Garcia CA, Crawford T, Mancias P, Connolly AM, et al. Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients. Neurology 1998;51:101-110.
160. Perini GI, Menegazzo E, Ermani M, Zara M, Gemma A, Ferruzza E, et al. Cognitive impairment and (CTG)n expansion in myotonic dystrophy patients. Biol Psychiatiy 1999;46:425-431.
161. Philips AV, Timchenko LT, Cooper TA. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 1998;280:737-741.
162. Philpot J, Sewry C, Pennock J, Dubowitz V. Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal muscle. Neuromuscul Disord 1995;5:301-305.
163. Portwood MM, Wicks IJ, Liebermann JS, Duveneck MJ. Intellectual and cognitive functions in adults with myotonic muscular dystrophy. Arch Phys Med Rehabil 1986;67:299-308.
164. Rae C, Scott RB, Thompson CH, Dixon RM, Dumughn I, Kemp GJ, et al. Brain biochemistry in Duchenne muscular dystrophy: a 1H magnetic resonance and neuropsychological study. J Neurol Sci 1998;160:148-157.
165. Rapaport D, Fuchs O, Nudel U, Yaffe D. Expression of Duchenne muscular dystrophy gene product in embryonic stem cells and their differentiative derivatives. J Biol Chem 1992;267:21289-21292.
166. Redding GJ, Okamoto GA, Guthrie RD, Rollevson D, Milstein JM. Sleep patterns in nonambulatory boys with Duchenne muscular dystrophy. Arch Phys Med Rehabil 1985;66:818-821.
167. Roberts RG. Dystrophins and dystrobrevins. Genome Biol 2001;2:3006.
168. Robertson NP, Wharton S, Anderson J, Scolding NJ. Adult polyglucosan body disease associated with an extrapyramidal syndrome. J Neurol Neurosurg Psychiatry 1998;65:788-790.
169. Robitaille Y, Carpenter S, Karpati G, DiMauro SD. A distinct form of adult polyglucosan body disease with massive involvement of central and peripheraneuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora's disease und normal ageing. Brain 1980;103:315-386.
170. Rosman NP, Kakulas BA. Mental deficiency associated with muscular dystrophy. A neuropathological study. Brain 1966;89:769-788.
171. Rosman NP. The cerebral defect and myopathy in Duchenne muscular dystrophy. A comparative clinicopathological study. Neurology 1970;20:829-835.
172. Ryan MM, Schnell C, Strickland CO, Shield LK, Morgan G, Iannaccone ST, et al. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol 2001;50:312-320.
173. Santavuori P, Somer H, Sainio K, Rapola J, Kruus S, Nikitin T, et al. Muscle-eye-brain disease (MEB). Brain Dev 1989;11:147-153.
174. Santhosh J, Bhatia M, Sahu S, Anand S. Quantitative EEG analysis for assessment to 'plan' a task in amyotrophic lateral sclerosis patients: a study of executive functions (planning) in ALS patients. Brain Res Cogn Brain Res 2004;22:59-66.
175. Sarkar PS, Appukuttan B, Han J, Ito Y, Ai C, Tsai W, et al. Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts. Nat Genet 2000;25:110-114.
176. Sartor H, Loose R, Tucha O, Klein HE, Lange KW. MELAS: a neuropsychological and radiological follow-up study. Mitochondrial encephalomyopathy, lactic acidosis and stroke. Acta Neurol Scand 2002;106:309-313.
177. Schreiber H, Gaigalat T, Wiedemuth-Catrinescu U, Graf M, Uttner I, Muche R, et al. Cognitive function in bulbar- and spinal-onset amyotrophic lateral sclerosis. Longitudinal study in 52 patients. J Neurol 2005;252:772-781.
178. Septien L, Gras P, Borsotti JP, Giroud M, Nivelon JL, Dumas R. Mental development in Duchenne muscular dystrophy. Correlation of data of the brain scanner. Pediatrie 1991;46:817-819.
179. Sergeant N, Sablonniere B, Schraen-Maschke S, Ghestem A, Maurage CA, Wattez A, et al. Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type I. Hum Mol Genet 2001;10:2143-2155.
180. Seznec H, Agbulut O, Sergeant N, Savouret C, Ghestem A, Tabti N, et al. Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities. Hum Mol Genet 2001;10:2717-2726.
181. Sharma S, Namrata S. Association of schizophrenia and mental retardation with facio-scapulohumeralmuscular dystrophy. Neurol India 2004;52:104-105.
182. Shishido F, Uemura K, Inugami A, Tomura N, Higano S, Fujita H, et al. Cerebral oxygen and glucose metabolism and blood flow in mitochondrial encephalomyopathy: a PET study. Neuroradiology 1996;38:102-107.
183. Shoffner JM, Brown MD, Stugard C, Jun AS, Pollock S, Haas RH, et al, Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation. Ann Neurol 1995;38:163-169,
184. Shoffner JM, Fernhoff PM, Krawiecki NS, Caplan DB, Holt PJ, Koontz DA, et al. Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation. Neurology 1992;42:2168-2174.
185. Sollee ND, Latham EE, Kindlon DJ, Bresnan MJ. Neuropsychological impairment in Duchenne muscular dystrophy. J Clin Exp Neuropsychol 1985;7:486-496.
186. Spranger M, Spranger S, Tischendorf M, Meinck HM, Cremer M, The role of large triplet repeat length in the developmental of mental retardation. Arch Neurol 1997;54:251-254.
187. Steinert H. Uber das klinische und anatomische Bild des Muskelschwundes der Myotoniker. Dtsch Z Nervenheilk 1909; 37-38.
188. Steyaert J, Umans S, Willekens D, Legius E, Pijkels E, de Die-Smulders C, et al. A study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophy. Clin Genet 1997;52:135-141.
189. Sue CM, Crimmins DS, Soo YS, Pamphlett R, Presgrave CM, Kotsimbos N, et al. Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: implications for pathogenesis. J Neurol Neurosurg Psychiatry 1998;65:233-240.
190. Suomalainen A, Majander A, Haltia M, Somer H, Lonnqvist J, Savontaus ML, et al. Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. J Clin Invest 1992;90:61-66.
191. Suzuki T, Koizumi J, Shiraishi H, Ofuku K, Sasaki M, Hori T, et al. Psychiatric disturbance in mitochondrial encephalomyopathy. J Neurol Neurosurg Psychiatry 1989;52:920-922.
192. Suzuki T, Koizumi J, Shiraishi H, Ishikawa N, Ofuku K, Sasaki M, et al. Mitochondrial encephalomyopathy (MELAS) with mental disorder. CT, MRI and SPECT findings. Neuroradiology 1990;32:74-76.
193. Suzuki Y, Kadowaki H, Taniyama M, Kadowaki T, Katagiri H, Oka Y, et al. Insulin edema in diabetes mellitus associated with the 3243 mitochondrial tRNA(Leu(UUR)) mutation; case reports. Diabetes Res Clin Pract 1995;29:137-142.
194. Takahashi S, Tohgi H, Yonezawa H, Obara S, Nagane Y. Cerebral blood flow and oxygen metabolism before and after a stroke-like episode in patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). J Neurol Sci 1998;158;58-64.
195. Takeda S, Kondo M, Sasaki J, Kurahashi H, Kano H, Arai K, et al. Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development. Hum Mol Genet 2003;12:1449-1459.
196. Tanabe Y, Iai M, Tamai K, Fujimoto N, Sugita K. Neuroradiological findings in children with congenital myotonic dystrophy. Acta Paediatr 1992;81;613-617.
197. Taneja KL, McCurrach M, Schalling M, Housman D, Singer RH. Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J Cell Biol 1995;128:995-1002.
198. Tatuch Y, Christodoulou J, Feigenbaum A, Clarke JT, Wherret J, Smith C, et al. Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 1992;50:852-858.
199. Thomeer EC, Verhoeven WM, van de Vlasakker CJ, Klompenhouwer JL. Psychiatric symptoms in MELAS; a case report. J Neurol Neurosurg Psychiatry 1998;64:692-693.
200. Thornton CA, Wymer JP, Simmons Z, McClain C, Moxley RT. Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Nat Genet 1997;16:407-409.
201. Tokarz SA, Duncan NM, Rash SM, Sadeghi A, Dewan AK, Pillers DA. Redefinition of dystrophin isoform distribution in mouse tissue by RT-PCR implies role in nonmuscle manifestations of Duchenne muscular dystrophy. Mol Genet Metab 1998;65:272-281.
202. Tonin P, Tomelleri G, Vio M, Rizzuto N. Polyglucosan body myopathy: a new case. Neuromuscul Disord 1992;2:419-422.
203. Torres LF, Duchen LW. The mutant mdx: inherited myopathy in the mouse. Morphological studies of nerves, muscles and end-plates. Brain 1987;110:269-299.
204. Tracey I, Scott RB, Thompson CH, Dunn JF, Barnes PR, Styles P, et al. Brain abnormalities in Duchenne muscular dystrophy: phosphorus-31 magnetic resonance spectroscopy and neuropsychological study. Lancet 1995;345:1260-1264.
205. Tuikka RA, Laaksonen RK, Somer HVK. Cognitive function in myotonic dystrophy: a follow-up study. Eur Neurol 1993;33:436-441.
206. Turconi AC, Benti R, Castelli E, Pochintesta S, Felisari G, Comi GP, et al. Focal cognitive impairment in mitochondrial encephalomyopathies: neuropsychological and neuroimaging study. J. Neurol. Sciences 1999;170:57-63.
207. Turpenny P, Clatk C, Kelly K. Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification. J Med Genet 1994;31:300-305.
208. Ubogu EE, Hong ST, Akman HO, Di Mauro S, Katirji B, Preston DC, et al. Adult polyglucosan body disease: a case report of a manifesting heterozygote. Muscle Nerve 2005;32:675-681.
209. Ueda H, Baba T, Ohno S. Current knowledge of dystrophin and dystrophin-associated proteins in the retina. Histol Histopathol 2000;15:753-760.
210. Vaillend C, Ungerer A, Billard JM. Facilitated NMDA receptor-mediated synaptic plasticity in the hippocampal CA1 area of dystrophin-deficient mice. Synapse 1999;33:59-70.
211. A receptors? Hippocampus 2002;12:713-717.
212. Vaillend C, Billard JM, Laroche S. Impaired long-term spatial and recognition memory and enhanced CA1 hippocampal LTP in the dystrophin-deficient Dmd(mdx) mouse. Neurobiol Dis 2004;17:10-20.
213. Valanne L, Ketonen L, Majander A, Suomalainen A, Pihko H. Neuroradiologic findings in children with mitochondrial disorders. Am J Neuroradiol 1998;19:369-377.
214. Van Spaendonck KP, Ter Bruggen JP, Weyn Banningh EW, Maassen BA, Van de Biezenbos JB, Gabreels FJ. Cognitive function in early adult and adult onset myotonic dystrophy. Acta Neurol Scand 1995;91:456-461.
215. Vercelletto M, Ronin M, Huvet M, Magne C, Feve JR. Frontal type dementia preceding amyotrophic lateral sclerosis: a neuropsychological and SPECT study of five clinical cases. Eur J Neurol 1999;6:295-299.
216. Vermersch P, Sergeant N, Ruchoux MM, Hofmann-Radvanyi H, Wattez A, Petit H, et al. Specific tau variants in the brains of patients with myotonic dystrophy. Neurology 1996;47:711-717.
217. von Gontard A, Zerres K, Backes M, Laufersweiler-Plass C, Wendland C, Melchers P, et al. Intelligence and cognitive function in children and adolescents with spinal muscular atrophy. Neuromuscul Disord 2002;12:130-136.
218. Watanabe Y, Hashikawa K, Moriwaki H, Oku N, Seike Y, Kodaka R, et al. SPECT findings in mitochondrial encephalomyopathy. J Nucl Med 1998;39:961-964.
219. Westerlaken JH, Van der Zee CE, Peters W, Wieringa B. The DMWD protein from the myotonic dystrophy (DM1) gene region is developmentally regulated and is present most prominently in synapse-dense brain areas. Brain Res 2003;971:116-127.
220. Whiting EJ, Waring JD, Tamai K, Somerville MJ, Hincke M, Staines WA, et al. Characterization of myotonic dystrophy kinase (DMK) protein in human and rodent muscle and central nervous tissue. Hum Mol Genet 1995;4:1063-1072.
221. Wicksell RK, Kihlgren M, Melin L, Eeg-Olofsson O. Specific cognitive deficits are common in children with Duchenne muscular dystrophy. Dev Med Child Neurol 2004;46:154-159.
222. Wightman G, Anderson VE, Martin J, Swash M, Anderton BH, Neary D, et al. Hippocampal and neocortical ubiquitin-immunoreactive inclusions in amyotrophic lateral sclerosis with dementia. Neurosci Lett 1992;139:269-274.
223. Wijmenga C, Frants RR, Brouwer OF, Moerer P, Weber JL, Padberg GW. Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet 1990;336:651-653.
224. Wikstrom J, Paetau A, Palo J, Sulkava R, Haltia M. Classic amyotrophic lateral sclerosis with dementia. Arch Neurol 1982;39:681-683.
225. Winblad S, Lindberg C, Hansen S. Temperament and character in patients with classical myotonic dystrophy type 1 (DM-1). Neuromuscul Disord 2005;15:287-292.
226. Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransterase, POMGnT1. Dev Cell 2001;1:717-724.
227. Yoshimura N, Otake M, Igarashi K, Matsunaga M, Takebe K, Kudo H. Topography of Alzheimer's neurofibrillary change distribution in myotonic dystrophy. Clin Neuropathol 1990;9:234-239.
228. Yoshioka M, Okuno T, Honda Y, Nakano Y. Central nervous system involvement in progressive muscular dystrophy. Arch Dis Child 1980;55:589-594.
229. Zeviani M, Antozzi C. Defects of mitochondrial DNA. Brain Pathol 1992;2:121-132.
230. Zeviani M, Moraes CT, DiMauro S, Nakase H, Bonilla E, Schon EA, et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1988;38:1339-1346.
231. Ziemssen F, Sindern E, Schroder JM, Shin YS, Zange J, Kilimann MW, et al. Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. Ann Neurol 2000;47:536-540.