Electrophysiological findings in a Danish family with Machado-Joseph disease

Muscle and Nerve

Volumn 19, Issue 6, 1996, Pages 743-750

  Colding Jørgensen, Eskild ^a   Sørensen, Sven Asger ^a   Hasholt, Lis ^a   Lauritzen, Martin ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Azorean disease; CAG repeat expansion; electrophysiology; peripheral nerves; spinocerebellar degeneration

Indexed keywords

TRINUCLEOTIDE;

ADULT; AGED; ARTICLE; AUTORADIOGRAPHY; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 14; CLINICAL ARTICLE; CONTROLLED STUDY; DEGENERATIVE DISEASE; ELECTROMYOGRAPHY; EVOKED AUDITORY RESPONSE; EVOKED BRAIN STEM RESPONSE; FEMALE; GENE; HUMAN; MACHADO JOSEPH DISEASE; MALE; NERVE CONDUCTION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADULT; AGED; BRAIN STEM; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 14; DENMARK; ELECTROMYOGRAPHY; ELECTROPHYSIOLOGY; EVOKED POTENTIALS, AUDITORY; EVOKED POTENTIALS, SOMATOSENSORY; EVOKED POTENTIALS, VISUAL; FEMALE; HUMANS; MACHADO-JOSEPH DISEASE; MALE; MIDDLE AGED; MOTOR NEURONS; NERVE FIBERS; NERVE TISSUE PROTEINS; NEURAL CONDUCTION; NEURONS, AFFERENT; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTEINS; REPETITIVE SEQUENCES, NUCLEIC ACID; REPRESSOR PROTEINS;

EID: 0029914974     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199606)19:6<743::AID-MUS9>3.0.CO;2-A     Document Type: Article

References (38)

1. Azulay JP, Blin O, Mestre D, Sangla I, Serratrice G: Contrast sensitivity improvement with sulfamethoxazole and trimethoprim in a patient with Machado-Joseph disease without spasticity. J Neurol Sci 1994;123:95-99.
2. Barbeau A, Roy M, Cunha L, de Vincente AN, Rosenberg RN, Nyhan WL, MacLeod PL, Chazot G, Langston LB, Dawson DM, et al.: The natural history of Machado-Joseph disease. An analysis of 138 personally examined cases. Can J Neurol Sci 1984;11:510-525.
3. Bharucha NE, Bharucha EP, Bhabha SK: Machado-Joseph-Azorean disease in India. Neurology 1986;43:142-144.
4. Buchthal F: An Introduction to Electromyography. Copenhagen, Gyldendal, 1957.
5. Buchthal F, Rosenfalck A: Evoked action potentials and conduction velocity in human sensory nerves. Brain Res 1966;3:1-122.
6. Burt T, Blumbergs P, Currie B: A dominant hereditary ataxia resembling Machado-Joseph disease in Arnhem Land, Australia. Neurology 1993;43:1750-1752.
7. Goldberg Stern H, D'jaldetti R, Melamed E, Gadoth N: Machado-Joseph (Azorean) disease in a Yemenite Jewish family in Israel. Neurology 1994;44:1298-1031.
8. Healton EB, Brust JCM, Kerr DL, Resor S, Penn A: Presumably Azorean disease in presumably non-Portugese family. Neurology 1980;30:1084-1089.
9. Horowitz SH, Krarup C: Conduction studies of the normal sural nerve. Muscle Nerve 1992;15:374-383.
10. Hotson JR, Langsten EB, Louis AA, Rosenberg RN: The search for a physiologic marker of Machado-Joseph disease. Neurology 1987;37:112-116.
11. Kanda T, Isozaki E, Kato S, Tanabe H, Oda M: Type III Machado-Joseph disease in Japanese family: a clinicopathological study with special reference to the peripheral nervous system. Clin Neuropathol 1989;8:134-141.
12. Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, Kimura J, Narumiya S, Kakizuka A: CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8:221-227.
13. Kinoshita A, Hayashi M, Oda M, Tanabe H: Clinicopathological study of the peripheral nervous system in Machado-Joseph disease. J Neurol Sci 1995;130:48-58.
14. Kitamura MJ, Kubuki Y, Tsuruta K, Kurihara T, Matsukara S: A new family with Joseph disease in Japan. Homovanillic acid, magnetic resonance, and sleep apnea studies. Arch Neurol 1989;46:425-428.
15. Kondo H, Harayama H, Shinozawa K, Yuasa T, Miyatake T: [Auditory brainstem response and somatosensory evoked potential in Machado-Joseph disease in Japanese families]. Rinsho Shinkeigaku 1990;30:723-727.
16. Lang AE, Rogaeva EA, Tsuda T, HuttererJ. St George Hyslop P: Homozygous inheritance of the Machado-Joseph disease gene. Ann Neurol 1994;36:443-447.
17. Lima L, Coutinho P: Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorean Portuguese family. Neurology 1980;30:319-322.
18. Livingstone IR, Sequeiros J: Machado-Joseph disease in an American-Italian family. J Neurogenet 1984;1:185-188.
19. Maciel P, Gaspar C, DeStefano AL, Silveira I, Coutinho P, RadvanyJ, Dawson DM, Sudarsky L, GuimaraseJ, et al.: Correlation between CAG Repeat Length and Clinical Features in Machado-Joseph Disease. Am J Hum Genet 1995;57:54-61.
20. McLeod JG, Evans WA: Peripheral neuropathy in spinocerebellar degenerations. Muscle Nerve 1981;4:51-61.
21. Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acids Res 1988;16:1215.
22. Nakano K, Dawson DM, Spence A: Machado disease. A hereditary ataxia in Portuguese emigrants to Massachusetts. Neurology 1972;22:49-55.
23. Pedersen L, Trojaborg W: Visual, auditory and somatosensory pathway involvement in hereditary cerebellar ataxia, Friedreich's ataxia and familiar spastic paraplegia. Electroencephalogr Clin Neurophysiol 1980;52:283-297.
24. Pou Serradell A, Russi A, Ferrer I, Galofre E, Escudero D: [Machado-Joseph disease in a family of Spanish origin]. Rev Neurol (Paris) 1987;143:520-525.
25. Radvany J, Camargo CH, Costa ZM, Fonseca NC, Nascimento ED: Machado-Joseph disease of Azorean ancestry in Brazil: the Catarinakindred. Neurological, neuroimaging, psychiatric and neuropsychological findings in the largest known family, the "Catarina" kindred. Arq Neuropsiquiatr 1993;51:21-30.
26. Riku S, Sugimura K, Mutoh T, Matsuoka Y, Takahashi A: [A clinico-pathological study of Machado-Joseph disease]. Rinsho Shinkeigaku 1987;27:1203-1210.
27. Romanul FCA, Fowler HL, Radvanyb J, Feldman RG, Feingold M: Azorean disease of the nervous system. N Engl J Med 1977;296:1505-1508.
28. Rosenberg RN: Machado-Joseph disease: an autosomal dominant motor system degeneration. Mov Disord 1992;7:193-203.
29. Spinella GM, Sheridan PH: Research initiatives on Machado-Joseph disease: National Institute of Neurological Disorders and Stroke Workshop summary. Neurology 1992;42:2048-2051.
30. St George Hyslop P, Rogaeva E, Huterer J, Tsuda T, Santos J, Haines JL, Schlumpf K, Rogaev EI, Liang Y, McLachlan DR, et al.: Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14. Am J Hum Genet 1994;55:120-125.
31. Sudarsky L, Corwin L, Dawson DM: Machado-Joseph disease in New England: clinical description and distinction from the olivopontocerebellar atrophies. Mov Disord 1992;7:204-208.
32. Suite ND, SequeirosJ, McKhann GM: Machado-Joseph disease in a Sicilian-American family. J Neurogenet 1986;3:177-182.
33. Takiyama Y, Ikemoto S, Tanaka Y, Mizuno Y, Yoshida M, Yasuda N: A large Japanese family with Machado-Joseph disease: clinical and genetic studies. Acta Neurol Scand 1989;79:214-222.
34. Takiyama Y, Nishizawa M, Tanaka H, Kawashima S, Sakamoto H, Karube Y, Shimazaki H, Soutome M, Endo K, Ohta S, et al.: The gene for Machado-Joseph disease maps to human chromosome 14q. Nat Genet 1993;4:300-304.
35. Takiyama Y, Oyanagi S, Kawashima S, Sakamoto H, Saito K, Yoshida M, Tsuji S, Mizuno Y, Nishizawa M: A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q. Neurology 1994;44:1302-1308.
36. Trojaborg WT, Moon A, Andersen BB, Trojaborg NS: Sural nerve conduction parameters in normal subjects related to age, gender, temperature, and height: a reappraisal. Muscle Nerve 1992;15:666-671.
37. Wakisaka A, Sasaki H: [Recent progress of research on hereditary spinocerebellar degeneration]. Nippon Rinsho 1993;51:2467-2473.
38. Woods BT, Schaumburg HH: Nigrospinodentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinicopathological entity. J Neurol Sci 1972;17:149-166.