An electrophysiologic and pathologic study of peripheral nerves in individuals with Machado-Joseph disease

Chinese Medical Journal (Taipei)

Volumn 61, Issue 4, 1998, Pages 181-187

  Soong, Bing Wen ^a,c   Lin, Kon Ping ^b,c  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

^b NATIONAL DEFENSE MEDICAL CENTER   (Taiwan)

^c TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

Author keywords

Machado Joseph disease; Nerve conduction studies; Sural nerve biopsy

Indexed keywords

ADULT; AGED; ARTICLE; FEMALE; HUMAN; MACHADO JOSEPH DISEASE; MALE; MIDDLE AGED; NERVE CONDUCTION; PATHOLOGY; PATHOPHYSIOLOGY; PERIPHERAL NERVE;

ADULT; AGED; FEMALE; HUMANS; MACHADO-JOSEPH DISEASE; MALE; MIDDLE AGED; NEURAL CONDUCTION; PERIPHERAL NERVES;

EID: 33646942491     PISSN: 05781337     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

1. Harding AE. Clinical features and classification of inherited ataxias. AdvNemol 1993;61:1-14.
2. Soong BW, Cherng CH, Liu RS, Shan DE. Machado-Joseph disease: clinical, molecular and metabolic characterization in Chinese kindreds. Ann Neuiol 1997;41:446-52.
3. Coutinho P. Review of neuropathological findings in Machado-Joseph disease: clinico-pathological correlation. Presented at the NIH: Research Initiatives on MachadoJoseph Disease, Bethesda, June 3-4, 1991.
4. Sudarsky L, Corwin L, Dawson DM. Machado-Joseph disease in New England: clinical description and distinction from the olivopontocerebellar atrophies. Move Disoid 1991,7:104-8.
5. Takiyama Y, Nishizawa M, Tanaka H, Kawashima S, Sakamoto H, Karube Y, et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nature Genet 1993;4:300-4.
6. Sequeiros J, Silveira I, Maciel P, Coutinho P, Manaia A, Caspar C, et al. Genetic linkage studies of Machado-Joseph disease with chromosome 14q STRPs in 16 PortugueseAzorean kindreds. Genomics 1994;21:645-8.
7. St George-Hyslop P, Rogaeva E, Tauda T, Hutterer J, Santos J, Haines J, et al. Machado-Joseph disease in pedigrees of Azorean descent is also linked to chromosome 14. Am J Hum Genet 1994;55:120-5.
8. Twist EC, Casaubon LK, Ruttledge MH, Rao VS, Macleod PM, Radvany J, et al. Machado-Joseph disease maps to the same region of chromosome 14 as the spinocerehellar ataxia type 3 locus. J Med Genet 1995;32:25.
9. Kawaguchi Y, Okamoto T, Taniwaki M, Megumi A, Inoue A, Katayama S, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet 1994;8:221-7.
10. Rossi A, Ciacci G, Federico A, Mondelli M, Rizzutto N. Sensory and motor peripheral neuropathy in olivopontocerebellar atrophy. Acta Neuiol Scand 1986;73: 363-71.
11. Lin KP, Yeh TP, Wang S, Liao KK, Kao KP, Shan DE. Polyneuropathy associated with acute monoblastic leukemia: a case report. Chin Med J (Taipei) 1996;58: 435-8.
12. Carenini L, Finocchiaro G, Di Donato S, Visciani A, Negri S. Electromyography and nerve conduction study in autosomal dominant olivopontocerebellar atrophy. /Neural 1984;231:34-7.
13. Bennet RH, Ludvigson P, DeLeon G, Berry G. Large fiber sensory neuronopathy in autosomal dominant spinocerebellar degeneration. Arch Neural 1984;41:175-8.
14. Caruso G, Santoro L, Perretti A, Massini R, Pelosi L, Crisci C, et al. Friedreich's ataxia: electrophysiological and histological findings in patients and relatives. Muscle Nerve 1987;10:503-15.
15. Wadia N, Irani P, Mehta L, Purohit A. Evidence of peripheral neuropathy in a variety of heredo-familial olivopontocerebellar degeneration frequently seen in India. In: Sobue I, ed. Spinocerebellar degenerations. Tokyo, Japan: University of Tokyo Press, 1980:239-50.
16. Inonue K, Hirano A, Hassin J. Friedreich's ataxia selectively involves the large neurons of the dorsal root ganglion. (Abstract) Ann Nemol 1979;6:150.
17. DeStefano AL, Cupples A, Maciel P, Caspar C, Radvany J, Dawson DM, et al. A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease. Am J Hum Genet 1996;59:119-27.