Autosomal dominant sensory ataxia: A neuroaxonal dystrophy

Acta Neuropathologica

Volumn 116, Issue 3, 2008, Pages 331-336

  Moeller, Jeremy J ^a   Macaulay, Robert J B ^a   Valdmanis, Paul N ^b   Weston, Lyle E ^c   Rouleau, Guy A ^b   Dupré, Nicolas ^d  

^a DALHOUSIE UNIVERSITY   (Canada)

^b UNIVERSITY OF MONTREAL   (Canada)

^c MONCTON HOSPITAL   (Canada)

^d LAVAL UNIVERSITY   (Canada)

Author keywords

Autosomal dominant sensory ataxia; Neuroaxonal dystrophy; Spinocerebellar degeneration

Indexed keywords

AMYLOID PRECURSOR PROTEIN;

ADULT; ARTICLE; ATAXIA; AUTOPSY; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT SENSORY ATAXIA; AXOPLASM FLOW; BRAIN CORTEX; BRAIN REGION; CASE REPORT; CELL ACTIVATION; CELL LOSS; CONGESTIVE HEART FAILURE; ELECTRON MICROSCOPY; GLIOSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MEDULLA OBLONGATA; MICROGLIA; NEUROAXONAL DYSTROPHY; PERIPHERAL NERVE; PRIORITY JOURNAL; SKELETAL MUSCLE; SPHEROID CELL; SPINAL CORD VENTRAL HORN; SUBTHALAMIC NUCLEUS; THORACOLUMBAR SPINE;

ATAXIA; AXONS; CEREBRAL CORTEX; HUMANS; MALE; MIDDLE AGED; NEUROAXONAL DYSTROPHIES; SPHEROIDS, CELLULAR; SPINOCEREBELLAR DEGENERATIONS;

EID: 49049119042     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-008-0362-6     Document Type: Article

References (29)

1. Asbury AK, Gale MK, Cox SC, Baringer JR, Berg BO (1972) Giant axonal neuropathy - a unique case with segmental neurofilamentous masses. Acta Neuropathol 20:237-247
2. Axelsson R, Roytta M, Sourander P, Akesson HO, Andersen O (1984) Hereditary diffuse leucoencephalopathy with spheroids. Acta Psychiatr Scand Suppl 314:1-65
3. Baba Y, Ghetti B, Baker MC, Uitti RJ, Hutton ML, Yamaguchi K, Bird T, Lin W, DeLucia MW, Dickson DW, Wszolek ZK (2006) Hereditary diffuse leukoencephalopathy with spheroids: Clinical, pathologic and genetic studies of a new kindred. Acta Neuropathol 111:300-311
4. Cavalier L, Ouahchi K, Kayden HJ, DiDonato S, Reutenauer L, Mandel J-L, Koenig M (1998) Ataxia with isolated vitamin E deficiency: Heterogeneity of mutations and phenotypic variability in a large number of families. Am J Hum Genet 62:301-310
5. Ellison D, Love S, Chimelli L, Harding BN, Lowe J, Vinters HV (2004) Nutritional deficiencies. Neuropathology: A reference text of CNS pathology. Mosby, Edinburgh, pp 415-423
6. Hakola HP (1972) Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia. Acta Psychiatr Scand Suppl 232:1-173
7. Hayflick SJ, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KHL, Gitschier J (2003) Genetic, clinical and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 48:33-40
8. Ichihara N, Wu J, Chui DH, Yamazaki K, Wakabayashi T, Kikuchi T (1995) Axonal degeneration promotes abnormal accumulation of amyloid beta-protein in ascending gracile tract of gracile axonal dystrophy (GAD) mouse. Brain Res 695:173-178
9. Itoh K, Shiga K, Shimizu K, Muranishi M, Nakagawa M, Fushiki S (2006) Autosomal dominant leukodystrophy with axonal spheroids and pigmented glia: Clinical and neuropathological characteristics. Acta Neuropathol 111:39-45
10. Khateeb S, Flusser H, Ofir R, Shelef I, Narkis G, Vardi G, Shorer Z, Levy R, Galil A, Elbedour K, Birk OS (2006) PLA2G6 mutation underlies infantile neuroaxonal dystrophy. Am J Hum Genet 79:942-948
11. Kikuchi T, Mukoyama M, Yamazaki K, Moriya H (1990) Axonal degeneration of ascending sensory neurons in gracile axonal dystrophy mutant mouse. Acta Neuropathol 80:145-151
12. Lowe J, Leigh PN (2002) Disorders of movement and system degenerations. In: Graham DI, Lantos PL (eds) Greenfield's neuropathology, vol II. 7th edn. Arnold, New York, pp 325-430
13. Nachmanoff DB, Segal RA, Dawson DM, Brown RB, De Girolami U (1997) Hereditary ataxia with sensory neuronopathy: Biemond's ataxia. Neurology 48:273-275
14. Ouahchi K, Arita M, Kayden H, Hentati F, Hamida MB, Sokol R, Arai H, Inoue K, Mandel J-L, Koenig M (1995) Ataxia with isolated vitamin E deficiency is caused by mutations in alpha-tocopherol transfer protein. Nat Genetics 9:141-145
15. Paloneva J, Autti T, Raininko R, Partanen J, Salonen O, Puranen M, Hakola P, Haltia M (2001) CNS manifestations of Nasu-Hakola disease. Neurology 56:1552-1558
16. Saigoh K, Wang YL, Suh JG, Yamanishi T, Sakai Y, Kiyosawa H, Harada T, Ichihara N, Wakana S, Kikuchi T, Wada K (1999) Intragenic deletion in the gene encoding ubiquitin carboxy-terminal hydrolase in gad mice. Nat Genet 23:47-51
17. Saito K, Yokoyama T, Okaniwa M, Kamoshita S (1982) Neuropathology of chronic vitamin E deficiency in fatal familial intrahepatic cholestasis. Acta Neuropathol (Berl) 58:187-192
18. Satya-Murti S, Howard L, Krohel G, Wolf B (1986) The spectrum of neurologic disorder from vitamin E deficiency. Neurology 36:917-921
19. Seitelberger F, Gross H (1957) Late infantile form of Hallervorden-Spatz disease. II. Histochemical findings; discussion on nosology. (Uber eine spatinfantile Form der Hallervorden-Spatzschen Krankheit. II. Mitteilungen: Histochemische Befunde, Eroerterung der Nosologie). Dtsch Z Nervenheilkd 176:104-125
20. Southam E, Thomas PK, King RHM, Goss-Sampson MA, Muller DPR (1991) Experimental vitamin E deficiency in rats: Morphological and functional evidence of abnormal axonal transport secondary to free radical damage. Brain 114:915-936
21. Sung JH, Park SH, Mastri AR, Warwick WJ (1980) Axonal dystrophy in the gracile nucleus in congenital biliary atresia and cystic fibrosis (mucoviscidosis): Beneficial effect of vitamin E therapy. J Neuropathol Exp Neurol 39:584-597
22. Takagi A, Oda K, Kikuchi T, Kajihara H (1996) Fine structural changes of muscle spindles in the gracile axonal dystrophy mutant mouse. Virchows Arch 428:289-296
23. Valdmanis PN, Brunet D, St-Onge J, Weston L, Rouleau GA, Dupre N (2006) A founder haplotype for autosomal dominant sensory ataxia in Eastern Canada. Neurology 67:2239-2242
24. Valdmanis PN, Simoes Lopes AA, Gros-Louis F, Steward JD, Rouleau GA, Dupre N (2004) A novel neurodegenerative disease characterized by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12-8q12.1. J Med Genet 41:634-639
25. Wang YL, Takeda A, Osaka H, Hara Y, Furuta A, Setsuie R, Sun YJ, Kwon J, Sato Y, Sakurai M, Noda M, Yoshikawa Y, Wada K (2004) Accumulation of beta- and gamma-synucleins in the ubiquitin carboxyl-terminal hydrolase L1-deficient gad mouse. Brain Res 1019:1-9
26. Yamazaki K, Wakasugi N, Tomita T, Kikuchi T, Mukoyama M, Ando K (1988) Gracile axonal dystrophy (GAD), a new neurological mutant in the mouse. Proc Soc Exp Biol Med 187:209-215
27. Yang Y, Allen E, Ding J, Wang W (2007) Giant axonal neuropathy. Cell Mol Life Sci 64:601-609
28. Yokota T, Uchihara T, Kumagai J, Shiojiri T, Pang JJ, Arita M, Arai H, Hayashi M, Kiyosawa M, Okeda R, Mizusawa H (2000) Postmortem study of ataxia with retinitis pigmentosa by mutation of the alpha-tocopherol transfer protein gene. J Neurol Neurosurg Psychiatr 68:521-525
29. Zarranz JJ, Gomez-Esteban JC, Atares B, Lezcano E, Forcadas M (2006) Tau-predominant-associated pathology in a sporadic late-onset Hallervorden-Spatz syndrome. Mov Dis 21:107-111