Frontotemporal dementia: A bridge between dementia and neuromuscular disease

Annals of the New York Academy of Sciences

Volumn 1338, Issue 1, 2015, Pages 71-93

  Ng, Adeline S L ^a   Rademakers, Rosa ^b   Miller, Bruce L ^c  

^a TAN TOCK SENG HOSPITAL   (Singapore)

^b MAYO CLINIC   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Amyotrophic lateral sclerosis; C9ORF72; Frontotemporal dementia; Motor neuron disease; Neuromuscular disease

Indexed keywords

BINDING PROTEIN; FUSED IN SARCOMA PROTEIN; RNA; TAU PROTEIN; TRANSACTIVE RESPONSE DNA BINDING PROTEIN; UNCLASSIFIED DRUG;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; C9ORF72 GENE; CHROMOSOME 16P; CHROMOSOME 1P; CHROMOSOME 3P; CHROMOSOME 5Q; CHROMOSOME 9P; CHROMOSOME XP; CHRONIC DISEASE; DEMENTIA; DISEASE ASSOCIATION; FRONTOTEMPORAL DEMENTIA; GENE; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; HUMAN; LATE ONSET TAY SACHS DISEASE; MOTONEURON; MOTOR NEURON DISEASE; NEUROMUSCULAR DISEASE; NEUROPATHOLOGY; PATHOGENESIS; PHENOTYPE; POLYGLUCOSAN BODY DISEASE; SQSTM1 GENE; TRAUMATIC BRAIN INJURY; VCP GENE; CHROMOSOME 9; COMPLICATION; GENETICS; OPEN READING FRAME; PATHOLOGY;

CHROMOSOMES, HUMAN, PAIR 9; FRONTOTEMPORAL DEMENTIA; HUMANS; NEUROMUSCULAR DISEASES; OPEN READING FRAMES;

EID: 84924977606     PISSN: 00778923     EISSN: 17496632     Source Type: Journal    
DOI: 10.1111/nyas.12638     Document Type: Article

References (219)

1. Lomen-Hoerth, C., T. Anderson & B. Miller . 2002. The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology 59: 1077-1079.
2. Watts, G.D.J., J. Wymer, M.J. Kovach, et al. 2004. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat. Genet. 36: 377-381.
3. Kimonis, V.E., S.G. Mehta, E.C. Fulchiero, et al. 2008. Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia. Am. J. Med. Genet. A. 146A: 745-757.
4. Pick, A. 1892. Über die Beziehungen der senilen Hirnatrophie zur Aphasie. Prag. Med. Wochenschr. 17: 165-167.
5. Alzheimer, A. 1911. Über eigenartige Krankheitsfälle des späteren Alters. Z. Für. Gesamte. Neurol. Psychiatr. 4: 356-385.
6. Harvey, R.J., M. Skelton-Robinson & M.N. Rossor . 2003. The prevalence and causes of dementia in people under the age of 65 years. J. Neurol. Neurosurg. Psychiatry 74: 1206-1209.
7. Gislason, T.B., S. Ostling, A. Börjesson-Hanson, et al. 2014 Jun 18. Effect of diagnostic criteria on prevalence of frontotemporal dementia in the elderly. Alzheimer's & Dementia. In press.
8. Gorno-Tempini, M.L., A.E. Hillis, S. Weintraub . et al. 2011. Classification of primary progressive aphasia and its variants. Neurology 76: 1006-1014.
9. Kiernan, M.C., S. Vucic, B.C. Cheah, et al. 2011. Amyotrophic lateral sclerosis. Lancet 377: 942-955.
10. Wright, A.F. 2005. Neurogenetics II: complex disorders. J. Neurol. Neurosurg. Psychiatry 76: 623-631.
11. Marie, P. 1892. Lecons sur les maladies de la moelle. Paris: Masson [English translation Montagu Lubbock. London: The New Sydenham Society, 1895;CLII].
12. Hudson, A.J. 1991. Amyotrophic lateral sclerosis/parkinsonism/dementia: clinico-pathological correlations relevant to Guamanian ALS/PD. Can. J. Neurol. Sci. J. Can. Sci. Neurol. 18: 387-389.
13. McGeer, P.L., C. Schwab, E.G. McGeer, et al. 1997. Familial nature and continuing morbidity of the amyotrophic lateral sclerosis-parkinsonism dementia complex of Guam. Neurology 49: 400-409.
14. Rosen, D.R., T. Siddique, D. Patterson, et al. 1993. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362: 59-62.
15. Katz, J.S., H.D. Katzberg, S.C. Woolley, et al. 2012. Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113T SOD1 mutation. Amyotroph. Lateral Scler Off Publ. World Fed. Neurol. Res. Group Mot. Neuron Dis. 13: 567-569.
16. Mitsuyama, Y. 1993. Presenile dementia with motor neuron disease. Dement. Geriatr. Cogn. Disord. 4: 137-142.
17. Neary, D., J.S. Snowden, D.M. Mann, et al. 1990. Frontal lobe dementia and motor neuron disease. J. Neurol. Neurosurg. Psychiatry 53: 23-32.
18. Leigh, P.N., B.H. Anderton, A. Dodson, et al. 1988. Ubiquitin deposits in anterior horn cells in motor neurone disease. Neurosci. Lett. 93: 197-203.
19. Leigh, P.N., H. Whitwell, O. Garofalo, et al. 1991. Ubiquitin-immunoreactive intraneuronal inclusions in amyotrophic lateral sclerosis: morphology, distribution, and specificity. Brain J. Neurol. 114: 775-788.
20. Okamoto, K., S. Hirai, T. Yamazaki, et al. 1991. New ubiquitin-positive intraneuronal inclusions in the extra-motor cortices in patients with amyotrophic lateral sclerosis. Neurosci. Lett. 129: 233-236.
21. Wightman, G., V.E. Anderson, J. Martin, et al. 1992. Hippocampal and neocortical ubiquitin-immunoreactive inclusions in amyotrophic lateral sclerosis with dementia. Neurosci. Lett. 139: 269-274.
22. Lomen-Hoerth, C., J. Murphy, S. Langmore, et al. 2003. Are amyotrophic lateral sclerosis patients cognitively normal? Neurology 60: 1094-1097.
23. Neumann, M., D.M. Sampathu, L.K. Kwong, et al. 2006. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314: 130-133.
24. Mackenzie, I.R.A., M. Neumann, E.H. Bigio, et al. 2009. Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations. Acta Neuropathol. (Berl.) 117: 15-18.
25. Ratnavalli, E., C. Brayne, K. Dawson & J.R. Hodges . 2002. The prevalence of frontotemporal dementia. Neurology 58: 1615-1621.
26. Borroni, B., A. Alberici, M. Grassi, et al. 2010. Is frontotemporal lobar degeneration a rare disorder? Evidence from a preliminary study in Brescia county, Italy. J. Alzheimers Dis. JAD 19: 111-116.
27. Rosso, S.M., L. Donker Kaat, T. Baks, et al. 2003. Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study. Brain J. Neurol. 126: 2016-2022.
28. Knopman, D.S., R.C. Petersen, S.D. Edland, et al. 2004. The incidence of frontotemporal lobar degeneration in Rochester, Minnesota, 1990 through 1994. Neurology 62: 506-508.
29. Mercy, L., J.R. Hodges, K. Dawson, et al. 2008. Incidence of early-onset dementias in Cambridgeshire, United Kingdom. Neurology 71: 1496-1499.
30. Ikeda, M., T. Ishikawa & H. Tanabe . 2004. Epidemiology of frontotemporal lobar degeneration. Dement. Geriatr. Cogn. Disord. 17: 265-268.
31. Hou, C.E., K. Yaffe, E.J. Pérez-Stable & B.L. Miller . 2006. Frequency of dementia etiologies in four ethnic groups. Dement. Geriatr. Cogn. Disord. 22: 42-47.
32. Johnson, J.K., J. Diehl, M.F. Mendez, et al. 2005. Frontotemporal lobar degeneration: demographic characteristics of 353 patients. Arch. Neurol. 62: 925-930.
33. Seelaar, H., W. Kamphorst, S.M. Rosso, et al. 2008. Distinct genetic forms of frontotemporal dementia. Neurology 71: 1220-1226.
34. Warren, J.D., J.D. Rohrer & M.N. Rossor . 2013. Clinical review. Frontotemporal dementia. BMJ 347: f4827.
35. Hodges, J.R., R. Davies, J. Xuereb, et al. 2003. Survival in frontotemporal dementia. Neurology 61: 349-354.
36. Roberson, E.D., J.H. Hesse, K.D. Rose, et al. 2005. Frontotemporal dementia progresses to death faster than Alzheimer disease. Neurology 65: 719-725.
37. Rascovsky, K., D.P. Salmon, A.M. Lipton, et al. 2005. Rate of progression differs in frontotemporal dementia and Alzheimer disease. Neurology 65: 397-403.
38. Strong, M.J. 2008. The syndromes of frontotemporal dysfunction in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 9: 323-338.
39. Portet, F., C. Cadilhac, J. Touchon & W. Camu . 2001. Cognitive impairment in motor neuron disease with bulbar onset. Amyotroph Lateral Scler Other Motor Neuron Disord. 2: 23-29.
40. Massman, P.J., J. Sims, N. Cooke, et al. 1996. Prevalence and correlates of neuropsychological deficits in amyotrophic lateral sclerosis. J. Neurol. Neurosurg. Psychiatry 61: 450-455.
41. Ringholz, G.M., S.H. Appel, M. Bradshaw, et al. 2005. Prevalence and patterns of cognitive impairment in sporadic ALS. Neurology 65: 586-590.
42. Neary, D., J.S. Snowden & D.M. Mann . 2000. Cognitive change in motor neurone disease/amyotrophic lateral sclerosis (MND/ALS). J. Neurol. Sci. 180: 15-20.
43. Caselli, R.J., A.J. Windebank, R.C. Petersen, et al. 1993. Rapidly progressive aphasic dementia and motor neuron disease. Ann. Neurol. 33: 200-207.
44. Murphy, J.M., R.G. Henry, S. Langmore, et al. 2007. Continuum of frontal lobe impairment in amyotrophic lateral sclerosis. Arch. Neurol. 64: 530-534.
45. Abrahams, S., L.H. Goldstein, A. Al-Chalabi, et al. 1997. Relation between cognitive dysfunction and pseudobulbar palsy in amyotrophic lateral sclerosis. J Neurol. Neurosurg. Psychiatry 62: 464-472.
46. Mackenzie, I.R.A., M. Neumann, E.H. Bigio, et al. 2010. Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update. Acta Neuropathol. (Berl.) 119: 1-4.
47. Mackenzie, I.R.A. & R. Rademakers . 2007. The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments. Neurogenetics 8: 237-248.
48. Sampathu, D.M., M. Neumann, L.K. Kwong, et al. 2006. Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies. Am. J. Pathol. 169: 1343-1352.
49. Mackenzie, I.R.A., A. Baborie, S. Pickering-Brown, et al. 2006. Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype. Acta Neuropathol. (Berl.) 112: 539-549.
50. Neumann, M., R. Rademakers, S. Roeber, et al. 2009. A new subtype of frontotemporal lobar degeneration with FUS pathology. Brain J. Neurol. 132: 2922-2931.
51. Mackenzie, I.R.A. & R. Rademakers . 2008. The role of transactive response DNA-binding protein-43 in amyotrophic lateral sclerosis and frontotemporal dementia. Curr. Opin. Neurol. 21: 693-700.
52. Forman, M.S., I.R. Mackenzie, N.J. Cairns, et al. 2006. Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations. J. Neuropathol. Exp. Neurol. 65: 571-581.
53. Mackenzie, I.R.A., M. Baker, S. Pickering-Brown, et al. 2006. The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene. Brain J. Neurol. 129: 3081-3090.
54. Mackenzie, I.R.A., M. Neumann, A. Baborie, et al. 2011. A harmonized classification system for FTLD-TDP pathology. Acta Neuropathol. (Berl.) 122: 111-113.
55. Seelaar, H., K.Y. Klijnsma, I. de Koning, et al. 2010. Frequency of ubiquitin and FUS-positive, TDP-43-negative frontotemporal lobar degeneration. J. Neurol. 257: 747-753.
56. Urwin, H., K.A. Josephs, J.D. Rohrer, et al. 2010. FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. Acta Neuropathol. (Berl.) 120: 33-41.
57. Vance, C., B. Rogelj, T. Hortobágyi, et al. 2009. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323: 1208-1211.
58. Josephs, K.A., J.L. Whitwell, J.E. Parisi, et al. 2010. Caudate atrophy on MRI is a characteristic feature of FTLD-FUS. Eur. J. Neurol. Off. J. Eur. Fed. Neurol. Soc. 17: 969-975.
59. Neumann, M., S. Roeber, H.A. Kretzschmar, et al. 2009. Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease. Acta Neuropathol. (Berl.) 118: 605-616.
60. Holm, I.E., A.M. Isaacs & I.R.A. Mackenzie . 2009. Absence of FUS-immunoreactive pathology in frontotemporal dementia linked to chromosome 3 (FTD-3) caused by mutation in the CHMP2B gene. Acta Neuropathol. (Berl.) 118: 719-720.
61. Andersen, P.M. & A. Al-Chalabi . 2011. Clinical genetics of amyotrophic lateral sclerosis: what do we really know? Nat. Rev. Neurol. 7: 603-615.
62. Borroni, B., C. Bonvicini, A. Alberici, et al. 2009. Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease. Hum. Mutat. 30: E974-E983.
63. Chow, T.W., B.L. Miller, V.N. Hayashi & D.H. Geschwind . 1999. Inheritance of frontotemporal dementia. Arch. Neurol. 56: 817-822.
64. Goldman, J.S., J.M. Farmer, E.M. Wood, et al. 2005. Comparison of family histories in FTLD subtypes and related tauopathies. Neurology 65: 1817-1819.
65. Stevens, M., C.M. vanDuijn, W. Kamphorst, et al. 1998. Familial aggregation in frontotemporal dementia. Neurology 50: 1541-1545.
66. Rohrer, J.D., J.D. Warren, M. Modat, et al. 2009. Patterns of cortical thinning in the language variants of frontotemporal lobar degeneration. Neurology 72: 1562-1569.
67. Mackenzie, I.R.A. 2007. The neuropathology and clinical phenotype of FTD with progranulin mutations. Acta Neuropathol. (Berl.) 114: 49-54.
68. Chen-Plotkin, A.S., M. Martinez-Lage, P.M.A. Sleiman, et al. 2011. Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. Arch. Neurol. 68: 488-497.
69. Nasreddine, Z.S., M. Loginov, L.N. Clark, et al. 1999. From genotype to phenotype: a clinical pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation. Ann. Neurol. 45: 704-715.
70. Vance, C., A. Al-Chalabi, D. Ruddy, et al. 2006. Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain J. Neurol. 129: 868-876.
71. Morita, M., A. Al-Chalabi & P.M. Andersen, et al. 2006. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology 66: 839-844.
72. Momeni, P., J. Schymick, S. Jain, et al. 2006. Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. BMC Neurol 6: 44.
73. Valdmanis, P.N., N. Dupre, J.-P. Bouchard, et al. 2007. Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p. Arch. Neurol. 64: 240-245.
74. Luty, A.A., J.B.J. Kwok, E.M. Thompson, et al. 2008. Pedigree with frontotemporal lobar degeneration-motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. BMC Neurol. 8: 32.
75. LeBer, I., A. Camuzat, E. Berger, et al. 2009. Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease. Neurology 72: 1669-1676.
76. Boxer, A.L., I.R. Mackenzie, B.F. Boeve, et al. 2011. Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J. Neurol. Neurosurg. Psychiatry 82: 196-203.
77. DeJesus-Hernandez, M., I.R. Mackenzie, B.F. Boeve, et al. 2011. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72: 245-256.
78. Renton, A.E., E. Majounie, A. Waite, et al. 2011. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72: 257-268.
79. Akimoto, C., A.E. Volk, M. vanBlitterswijk, et al. 2014. A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. J. Med. Genet. 51: 419-424.
80. Majounie, E., A.E. Renton, K. Mok, et al. 2012. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol. 11: 323-330.
81. Jiao, B., B. Tang, X. Liu, et al. 2014. Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China. Neurobiol. Aging 35: 936.e19-936.22.
82. Kandiah, N., P. Sengdy, I.R.A. Mackenzie, et al. 2012. Rapidly progressive dementia in a Chinese patient due to C90RF72 mutation. Can. J. Neurol. Sci. J. Can. Sci. Neurol. 39: 676-677.
83. Cooper-Knock, J., C. Hewitt, J.R. Highley, et al. 2012. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain J. Neurol. 135: 751-764.
84. Konno, T., A. Shiga, A. Tsujino, et al. 2013. Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72. J. Neurol. Neurosurg. Psychiatry 84: 398-401.
85. Dobson-Stone, C., M. Hallupp, L. Bartley, et al. 2012. C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts. Neurology 79: 995-1001.
86. Gijselinck, I., T. VanLangenhove, J. vander Zee, et al. 2012. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol. 11: 54-65.
87. Ratti, A., L. Corrado, B. Castellotti, et al. 2012. C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect. Neurobiol. Aging 33: 2528.e7-2528.e14.
88. Smith, B.N., S. Newhouse, A. Shatunov, et al. 2013. The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur. J. Hum. Genet. EJHG 21: 102-108.
89. Benussi, L., R. Rademakers, N.J. Rutherford, et al. 2013. Estimating the age of the most common Italian GRN mutation: walking back to Canossa times. J. Alzheimers Dis. JAD 33: 69-76.
90. Galimberti, D., A. Reif, B. Dell'osso, et al. 2014. The C9ORF72 hexanucleotide repeat expansion is a rare cause of schizophrenia. Neurobiol. Aging 35: 1214.e7-1214.e10.
91. Chiò, A., G. Borghero, G. Restagno, et al. 2012. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain J. Neurol. 135: 784-793.
92. Sabatelli, M., F.L. Conforti, M. Zollino, et al. 2012. C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. Neurobiol. Aging 33: 1848.e15-1848.e20.
93. Stewart, H., N.J. Rutherford, H. Briemberg, et al. 2012. Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p. Acta Neuropathol. (Berl.) 123: 409-417.
94. García-Redondo, A., O. Dols-Icardo, R. Rojas-García, et al. 2013. Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide. Hum. Mutat. 34: 79-82.
95. Byrne, S., M. Elamin, P. Bede, et al. 2012. Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study. Lancet Neurol. 11: 232-240.
96. Williams, K.L., J.A. Fifita, S. Vucic, et al. 2013. Pathophysiological insights into ALS with C9ORF72 expansions. J. Neurol. Neurosurg. Psychiatry 84: 931-935.
97. Simón-Sánchez, J., E.G.P. Dopper, P.E. Cohn-Hokke, et al. 2012. The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain J. Neurol. 135: 723-735.
98. Kertesz, A., L.C. Ang, S. Jesso, et al. 2013. Psychosis and hallucinations in frontotemporal dementia with the C9ORF72 mutation: a detailed clinical cohort. Cogn. Behav. Neurol. Off. J. Soc. Behav. Cogn. Neurol. 26: 146-154.
99. Snowden, J.S., S. Rollinson, J.C. Thompson, et al. 2012. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain J. Neurol. 135: 693-708.
100. Sha, S.J., L.T. Takada, K.P. Rankin, et al. 2012. Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features. Neurology 79: 1002-1011.
101. Snowden, J.S., J. Harris, A. Richardson, et al. 2013. Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72. Amyotroph. Lateral Scler. Front Degener. 14: 172-176.
102. vanLangenhove, T., J. van der Zee, I. Gijselinck, et al. 2013. Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort. JAMA Neurol. 70: 365-373.
103. vanDamme, P. & W. Robberecht . 2009. Recent advances in motor neuron disease. Curr. Opin. Neurol. 22: 486-492.
104. Millecamps, S., S. Boillée, I. Le Ber, et al. 2012. Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes. J. Med. Genet. 49: 258-263.
105. Van Rheenen, W., M. van Blitterswijk, M.H.B. Huisman, et al. 2012 Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases. Neurology 79: 878-882.
106. Khan, B.K., J.D. Woolley, S. Chao, et al. 2012. Schizophrenia or neurodegenerative disease prodrome? Outcome of a first psychotic episode in a 35-year-old woman. Psychosomatics 53: 280-284.
107. Boeve, B.F., K.B. Boylan, N.R. Graff-Radford, et al. 2012. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain J. Neurol. 135: 765-783.
108. Takada, L.T., M.L.V. Pimentel, M. Dejesus-Hernandez, et al. 2012. Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation. Arch. Neurol. 69: 1149-1153.
109. Majounie, E., Y. Abramzon, A.E. Renton, 2012. Large C9orf72 repeat expansions are not a common cause of Parkinson's disease. Neurobiol. Aging. 33: 2527.e1-2527.e2.
110. Harms, M.B., D. Neumann, B.A. Benitez, et al. 2013. Parkinson disease is not associated with C9ORF72 repeat expansions. Neurobiol. Aging 34: 1519.e1-1519.e2.
111. Cairns, N.J., M. Neumann, E.H. Bigio, et al. 2007. TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions. Am. J. Pathol. 171: 227-240.
112. Murray, M.E., M. DeJesus-Hernandez, N.J. Rutherford, et al. 2011. Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol. (Berl.) 122: 673-690.
113. Hsiung, G.-Y.R., M. DeJesus-Hernandez, H.H. Feldman, et al. 2012. Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. Brain J. Neurol. 135: 709-722.
114. Mackenzie, I.R., T. Arzberger, E. Kremmer, et al. 2013. Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations. Acta Neuropathol. (Berl.) 126: 859-879.
115. Rohrer, J.D., T. Lashley, J.M. Schott, et al. 2011. Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration. Brain J. Neurol. 134: 2565-2581.
116. Pikkarainen, M., P. Hartikainen & I. Alafuzoff . 2008. Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions visualized with ubiquitin-binding protein p62 immunohistochemistry. J. Neuropathol. Exp. Neurol. 67: 280-298.
117. Deng, H.-X., W. Chen, S.-T. Hong, et al. 2011. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 477: 211-215.
118. Ash, P.E.A., K.F. Bieniek, T.F. Gendron, et al. 2013. Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 77: 639-646.
119. Gendron, T.F., K.F. Bieniek, Y.-J. Zhang, et al. 2013. Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS. Acta Neuropathol. (Berl) 126: 829-844.
120. Mann, D.M., S. Rollinson, A. Robinson, et al. 2013. Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72. Acta Neuropathol. Commun. 1: 68.
121. Van Welsem, M.E., J.A. Hogenhuis, V. Meininger, et al. 2002. The relationship between Bunina bodies, skein-like inclusions and neuronal loss in amyotrophic lateral sclerosis. Acta Neuropathol. (Berl.) 103: 583-589.
122. Strong, M.J., G.M. Grace, M. Freedman, et al. 2009. Consensus criteria for the diagnosis of frontotemporal cognitive and behavioural syndromes in amyotrophic lateral sclerosis. Amyotroph. Lateral Scler. Off. Publ. World Fed. Neurol. Res. Group Mot. Neuron Dis. 10: 131-146.
123. Yoshida, M. 2004. Amyotrophic lateral sclerosis with dementia: the clinicopathological spectrum. Neuropathol. Off. J. Jpn. Soc. Neuropathol. 24: 87-102.
124. Mackenzie, I.R.A., E.H. Bigio, P.G. Ince, et al. 2007. Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann. Neurol. 61: 427-434.
125. Blair, I.P., K.L. Williams, S.T. Warraich, et al. 2010. FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis. J. Neurol. Neurosurg. Psychiatry 81: 639-645.
126. Van Blitterswijk, M., M.A. van Es, E.A.M. Hennekam, et al. 2012. Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Hum. Mol. Genet. 21: 3776-3784.
127. Ferrari, R., K. Mok, J.H. Moreno, et al. 2012. Screening for C9ORF72 repeat expansion in FTLD. Neurobiol. Aging 33: 1850.e1-1850.e11.
128. Van Blitterswijk, M., M.C. Baker, M. DeJesus-Hernandez, et al. 2013. C9ORF72 repeat expansions in cases with previously identified pathogenic mutations. Neurology 81: 1332-1341.
129. Van Blitterswijk, M., M. DeJesus-Hernandez & R. Rademakers . 2012. How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? Curr. Opin. Neurol. 25: 689-700.
130. Van Blitterswijk, M., B. Mullen, A.M. Nicholson, et al. 2014. TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia. Acta Neuropathol. (Berl.) 127: 397-406.
131. Van Deerlin, V.M., P.M.A. Sleiman, M. Martinez-Lage, et al. 2010. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat. Genet. 42: 234-239.
132. Finch, N., M.M. Carrasquillo, M. Baker, et al. 2011. TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers. Neurology 76: 467-474.
133. Gallagher, M.D., E. Suh, M. Grossman, et al. 2014. TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions. Acta Neuropathol. (Berl.) 127: 407-418.
134. Van Blitterswijk, M., M. DeJesus-Hernandez, E. Niemantsverdriet, et al. 2013. Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study. Lancet Neurol. 12: 978-988.
135. Borghero, G., G. Floris, A. Cannas, et al. 2011. A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD. Neurobiol. Aging 32: 2327.e1-2327.e5.
136. Lattante, S., A. Conte, M. Zollino, et al. 2012. Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease. Neurology 79: 66-72.
137. Mosca, L., C. Lunetta, C. Tarlarini, et al. 2012. Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject. Neurobiol. Aging 33: 1846.e1-1846.e4.
138. Benajiba, L., I. Le Ber, A. Camuzat, et al. 2009. TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. Ann. Neurol. 65: 470-473.
139. Chiang, H.-H., P.M. Andersen, O.-B. Tysnes, et al. 2012. Novel TARDBP mutations in Nordic ALS patients. J. Hum. Genet. 57: 316-319.
140. Kovacs, G.G., J.R. Murrell, S. Horvath, et al. 2009. TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea. Mov. Disord. Off. J. Mov. Disord. Soc. 24: 1843-1847.
141. Yan, J., H.-X. Deng, N. Siddique, et al. 2010. Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia. Neurology 75: 807-814.
142. Ticozzi, N., V. Silani, A.L. LeClerc, et al. 2009. Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort. Neurology 73: 1180-1185.
143. Van Langenhove, T., J. van der Zee, K. Sleegers, et al. 2010. Genetic contribution of FUS to frontotemporal lobar degeneration. Neurology 74: 366-371.
144. Neumann, M., I.R. Mackenzie, N.J. Cairns, et al. 2007. TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations. J Neuropathol. Exp. Neurol. 66: 152-157.
145. Koppers, M., M.M. van Blitterswijk, L. Vlam, et al. 2012. VCP mutations in familial and sporadic amyotrophic lateral sclerosis. Neurobiol. Aging 33: 837.e7-837.e13.
146. Weihl, C.C. 2011. Valosin containing protein associated fronto-temporal lobar degeneration: clinical presentation, pathologic features and pathogenesis. Curr. Alzheimer Res. 8: 252-260.
147. Nalbandian, A., S. Donkervoort, E. Dec, et al. 2011. The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis. J. Mol. Neurosci. MN 45: 522-531.
148. Abramzon, Y., J.O. Johnson, S.W. Scholz, et al. 2012. Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis. Neurobiol. Aging 33: 2231.e1-2231.e6.
149. Johnson, J.O., J. Mandrioli, M. Benatar, et al. 2010. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 68: 857-64.
150. Williams, K.L., J.A. Solski, G.A. Nicholson & I.P. Blair . 2012. Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis. Neurobiol. Aging 33: 1488.e15-1488.e16.
151. Miller, J.W., B.N. Smith, S.D. Topp, et al. 2012. Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients. Neurobiol. Aging 33: 2721.e1-2721.e2.
152. Zou, Z.-Y., M.-S. Liu, X.-G. Li & L.-Y. Cui . 2013. Screening of VCP mutations in Chinese amyotrophic lateral sclerosis patients. Neurobiol. Aging 34: 1519.e3-1519.e4.
153. Stokholm, J., T.W. Teasdale, P. Johannsen, et al. 2013. Cognitive impairment in the preclinical stage of dementia in FTD-3 CHMP2B mutation carriers: a longitudinal prospective study. J. Neurol. Neurosurg. Psychiatry 84: 170-176.
154. Isaacs, A.M., P. Johannsen, I. Holm & J.E. Nielsen, 2011. FReJA consortium. Frontotemporal dementia caused by CHMP2B mutations. Curr. Alzheimer Res. 8: 246-251.
155. Cox, L.E., L. Ferraiuolo, E.F. Goodall, et al. 2010. Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). PLoS One 5: e9872.
156. Gennari, L., F. Gianfrancesco, M. Di Stefano, et al. 2010. SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone. J. Bone Miner. Res. 25: 1375-1384.
157. Ramesh Babu, J., M. Lamar Seibenhener, J. Peng, et al. 2008. Genetic inactivation of p62 leads to accumulation of hyperphosphorylated tau and neurodegeneration. J. Neurochem. 106: 107-120.
158. Nakaso, K., Y. Yoshimoto, T. Nakano, et al. 2004. Transcriptional activation of p62/A170/ZIP during the formation of the aggregates: possible mechanisms and the role in Lewy body formation in Parkinson's disease. Brain Res. 1012: 42-51.
159. Fecto, F., J. Yan, S.P. Vemula, et al. 2011. SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. Arch. Neurol. 68: 1440-1446.
160. Rubino, E., I. Rainero, A. Chiò, et al. 2012. SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Neurology 79: 1556-1562.
161. Le Ber, I., A. Camuzat, R. Guerreiro, et al. 2013. SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. JAMA Neurol. 70: 1403-1410.
162. Daoud, H. & G.A. Rouleau . 2011. A role for ubiquilin 2 mutations in neurodegeneration. Nat. Rev. Neurol. 7: 599-600.
163. Gellera, C., C. Tiloca, R. Del Bo, et al. 2013. Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia. J. Neurol. Neurosurg. Psychiatry 84: 183-187.
164. Synofzik, M., W. Maetzler, T. Grehl, et al. 2012. Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype. Neurobiol. Aging 33: 2949.e13-2949.e17.
165. Williams, K.L., S.T. Warraich, S. Yang, et al. 2012. UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis. Neurobiol. Aging 33: 2527.e3-2527.e10.
166. Brettschneider, J., V.M. Van Deerlin, J.L. Robinson, et al. 2012. Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion. Acta Neuropathol. (Berl.) 123: 825-839.
167. Dobson-Stone, C., A.A. Luty, E.M. Thompson, et al. 2013. Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis. Acta Neuropathol. (Berl.) 125: 523-533.
168. Lagier-Tourenne, C., M. Polymenidou & D.W. Cleveland . 2010. TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration. Hum. Mol. Genet. 19: R46-R64.
169. Arai, T., M. Hasegawa, H. Akiyama, et al. 2006. TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem. Biophys. Res. Commun. 351: 602-611.
170. Deng, H.-X., H. Zhai, E.H. Bigio, et al. 2010. FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis. Ann. Neurol. 67: 739-748.
171. Thomas, M., J. Alegre-Abarrategui & R. Wade-Martins . 2013. RNA dysfunction and aggrephagy at the centre of an amyotrophic lateral sclerosis/frontotemporal dementia disease continuum. Brain J. Neurol. 136: 1345-1360.
172. Brady, O.A., P. Meng, Y. Zheng, et al. 2011. Regulation of TDP-43 aggregation by phosphorylation and p62/SQSTM1. J. Neurochem. 116: 248-259.
173. Maruyama, H., H. Morino, H. Ito, et al. 2010. Mutations of optineurin in amyotrophic lateral sclerosis. Nature 465: 223-226.
174. Ritson, G.P., S.K. Custer, B.D. Freibaum, et al. 2010. TDP-43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP/p97. J. Neurosci. 30: 7729-7739.
175. Johnson, B.S., D. Snead, J.J. Lee, et al. 2009. TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity. J. Biol. Chem. 284: 20329-20339.
176. Furukawa, Y., K. Kaneko, S. Watanabe, et al. 2011. A seeding reaction recapitulates intracellular formation of Sarkosyl-insoluble transactivation response element (TAR) DNA-binding protein-43 inclusions. J. Biol. Chem. 286: 18664-18672.
177. Liu-Yesucevitz, L., A. Bilgutay, Y.-J. Zhang, et al. 2010. Tar DNA binding protein-43 (TDP-43) associates with stress granules: analysis of cultured cells and pathological brain tissue. PLoS One. 5: e13250.
178. Bentmann, E., M. Neumann, S. Tahirovic, et al. 2012. Requirements for stress granule recruitment of fused in sarcoma (FUS) and TAR DNA-binding protein of 43 kDa (TDP-43). J. Biol. Chem. 287: 23079-23094.
179. Bose, J.K., C.-C. Huang & C.-K.J. Shen . 2011. Regulation of autophagy by neuropathological protein TDP-43. J. Biol. Chem. 286: 44441-44448.
180. Martland, H.S. 1928. PUnch drunk. J. Am. Med. Assoc. 91: 1103-1107.
181. McKee, A.C., R.C. Cantu, C.J. Nowinski, et al. 2009. Chronic traumatic encephalopathy in athletes: progressive tauopathy after repetitive head injury. J. Neuropathol. Exp. Neurol. 68: 709-735.
182. Lucke-Wold, B.P., R.C. Turner, A.F. Logsdon, et al. 2014. Linking traumatic brain injury to chronic traumatic encephalopathy: identification of potential mechanisms leading to neurofibrillary tangle development. J. Neurotrauma.
183. Randolph, C., S. Karantzoulis & K. Guskiewicz . 2013. Prevalence and characterization of mild cognitive impairment in retired national football league players. J. Int. Neuropsychol. Soc. 19: 873-880.
184. McKee, A.C., B.E. Gavett, R.A. Stern, et al. 2010. TDP-43 proteinopathy and motor neuron disease in chronic traumatic encephalopathy. J. Neuropathol .Exp. Neurol. 69: 918-929.
185. Geschwind, D.H., S. Perlman, C.P. Figueroa, et al. 1997. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am. J. Hum. Genet. 60: 842-850.
186. Imbert, G., F. Saudou, G. Yvert, et al. 1996. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat. Genet. 14: 285-291.
187. Pulst, S.M., A. Nechiporuk, T. Nechiporuk, et al. 1996. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat. Genet. 14: 269-276.
188. Infante, J., J. Berciano, V. Volpini, et al. 2004. Spinocerebellar ataxia type 2 with Levodopa-responsive parkinsonism culminating in motor neuron disease. Mov. Disord. 19: 848-852.
189. Elden, A.C., H.-J. Kim, M.P. Hart, et al. 2010. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 466: 1069-1075.
190. Lee, T., Y.R. Li, C. Ingre, et al. 2011. Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients. Hum. Mol. Genet. 20: 1697-1700.
191. Liu, X., M. Lu, L. Tang, et al. 2013. ATXN2 CAG repeat expansions increase the risk for Chinese patients with amyotrophic lateral sclerosis. Neurobiol. Aging 34: 2236.e5-2236.e8.
192. Ross, O.A., N.J. Rutherford, M. Baker, et al. 2011. Ataxin-2 repeat-length variation and neurodegeneration. Hum. Mol. Genet. 20: 3207-3212.
193. Bonini, N.M. & A.D. Gitler . 2011. Model organisms reveal insight into human neurodegenerative disease: ataxin-2 intermediate-length polyglutamine expansions are a risk factor for ALS. J. Mol. Neurosci. 45: 676-683.
194. Van Langenhove, T., J. van der Zee, S. Engelborghs, et al. 2012. Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts. Neurobiol. Aging 33: 1004.e17-1004.e20.
195. Tazen, S., K. Figueroa, J.Y. Kwan, et al. 2013. Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2. JAMA Neurol. 70: 1302-1304.
196. Bäumer, D., S.Z. East, B. Tseu, et al. 2014. FTLD-ALS of TDP-43 type and SCA2 in a family with a full ataxin-2 polyglutamine expansion. Acta Neuropathol. (Berl.).
197. Lattante, S., S. Millecamps, G. Stevanin, et al. 2014. Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders. Neurology.
198. Van Blitterswijk, M., B. Mullen, M.G. Heckman, et al. 2014. Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers. Neurobiol. Aging 35: 2421.e13-2421.e17.
199. Cafferty, M.S., R.E. Lovelace, A.P. Hays, et al. 1991. Polyglucosan body disease. Muscle Nerve 14: 102-107.
200. Mochel, F., R. Schiffmann, M.E. Steenweg, et al. 2012. Adult polyglucosan body disease: natural history and key magnetic resonance imaging findings. Ann Neurol. 72: 433-441.
201. Robitaille, Y., S. Carpenter, G. Karpati & S.D. DiMauro . 1980. A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal 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 and normal ageing. Brain J. Neurol. 103: 315-336.
202. Bigio, E.H., M.F. Weiner, F.J. Bonte & C.L. White . 1997. Familial dementia due to adult polyglucosan body disease. Clin. Neuropathol. 16: 227-234.
203. Schröder, J.M., R. May, Y.S. Shin, et al. 1993. Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis). Acta Neuropathol. (Berl.) 85: 419-430.
204. Moses, S.W. & R. Parvari . 2002. The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. Curr. Mol. Med. 2: 177-188.
205. Lossos, A., Z. Meiner, V. Barash, et al. 1998. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. Ann. Neurol. 44: 867-872.
206. Sagnelli, A., M. Savoiardo, C. Marchesi, et al. 2014. Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease. Neuromuscul. Disord. 24: 272-276.
207. Paradas, C., H.O. Akman, C. Ionete, et al. 2014. Branching enzyme deficiency: expanding the clinical spectrum. JAMA Neurol. 71: 41-47.
208. Farmer, J.G., B.J. Crain, B.T. Harris & R.S. Turner . 2013. Coexisting adult polyglucosan body disease with frontotemporal lobar degeneration with transactivation response DNA-binding protein-43 (TDP-43)-positive neuronal inclusions. Neurocase 19: 67-75.
209. Bit-Ivan, E.N., K.-H. Lee, D. Gitelman, et al. 2014. Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration. Neuropathol. Appl. Neurobiol. 40: 778-782.
210. Shapiro, B.E., E.L. Logigian, E.H. Kolodny & G.M. Pastores . 2008. Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients. Muscle Nerve 38: 1012-1015.
211. Navon, R., E.H. Kolodny, H. Mitsumoto, et al. 1990. Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect. Am. J. Hum. Genet. 46: 817-821.
212. Neudorfer, O., G.M. Pastores, B.J. Zeng, et al. 2005. Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. Genet. Med. 7: 119-123.
213. MacQueen, G.M., P.I. Rosebush & M.F. Mazurek . 1998. Neuropsychiatric aspects of the adult variant of Tay-Sachs disease. J. Neuropsychiatry. Clin Neurosci. 10: 10-19.
214. Zaroff, C.M., O. Neudorfer, C. Morrison, et al. 2004. Neuropsychological assessment of patients with late onset GM2 gangliosidosis. Neurology 62: 2283-2286.
215. Rohrer, J.D. et al. 2009. The heritability and genetics of frontotemporal lobar degeneration. Neurology 73: 1451-1456.
216. Cruts, M. et al. 2006. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 442: 920-924.
217. Gass, J. et al. 2006. Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum. Mol. Genet. 15: 2988-3001.
218. Le Ber, I. et al. 2007. Progranulin null mutations in both sporadic and familial frontotemporal dementia. Hum. Mutat. 28:846-855.
219. Pickering-Brown, S.M. et al. 2008. Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations. Brain 131: 721-731.