Spanish family with Machado-Joseph disease: Neurophysiological features and neuropathy study

Neurologia

Volumn 15, Issue 6, 2000, Pages 213-221

  Arpa, J ^a   Garcia Planells, J ^a   Soler, R ^a   Cruz Martinez, A ^a   De Sarria Lucas, M J ^a   Lopez Pajares, R ^a   Gutierrez Molina, M ^a   Santiago, S ^a   Palau, A ^a   Palau, F ^a  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

Central motor conduction; Electrophysiology; Neuro ophtalmological findings; Neuro otological findings; Peripheral nervous system; Spinocerebellar ataxia 3

Indexed keywords

ALLELISM; ARTICLE; ELECTRONEUROGRAPHY; ELECTROPHYSIOLOGY; FAMILIAL DISEASE; GAZE; HUMAN; HUMAN TISSUE; MACHADO JOSEPH DISEASE; NERVE BIOPSY; NEUROPATHY; OPTOKINETIC NYSTAGMUS; PHENOTYPE; SPINOCEREBELLAR DEGENERATION; SURAL NERVE; VESTIBULOOCULAR REFLEX;

ADULT; AGE OF ONSET; AGED; FEMALE; HUMANS; MACHADO-JOSEPH DISEASE; MALE; MIDDLE AGED; NEUROPSYCHOLOGICAL TESTS; PEDIGREE; PERIPHERAL NERVOUS SYSTEM; SPAIN;

EID: 0033834919     PISSN: 02134853     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (41)

1. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6289 locus in three large kindreds
2. Chromosomal assignment on the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1
3. The gene for Machado-Joseph disease maps to human chromosome 14q
4. A third locus for autosomal dominant ataxia type I maps to chromosome 14q24.3-qter: Evidence for a fourth locus
5. Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular, and neuropathological features
6. Dominantly inherited ataxia in Portugal
7. Machado disease: A hereditary ataxia in Portuguese immigrants to Massachusetts
8. The natural history of Machado-Joseph disease
9. Epidemiology and clinical aspects of Machado-Joseph disease
10. CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1
11. Correlation between CAG repeat length and clinical features in Machado-Joseph disease
12. Machado-Joseph disease presenting as severe asymmetric proximal neuropathy
13. Spinocerebellar ataxias in Spanish patients: Genetic analysis of familial and sporadic cases
14. Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions
15. Transcranial magnetic stimulation in multiple system and late onset cerebellar atrophies
16. A large Japanese family with Machado-Joseph disease: Clinical and genetic analysis
17. Cognitive deficits in Machado-Joseph disease
18. Characteristic magnetic resonance imaging findings in Machado-Joseph disease
19. Autosomal dominant ataxia type I features in families with SCA1; SCA2 and SCA3
20. Characteristic magnetic resonance imaging findings in spinocerebellar ataxia 6
21. Maladie de Machado-Joseph dans une famille d'origine espagnole
22. Review of neuropathological findings in Machado-Joseph disease: Clinico-pathological correlation
23. Machado-Joseph disease in New England: Clinical distinction from the olivopontocerebellar atrophies
24. Dominantly inherited olivopontocerebellar atrophy from eastern Cuba. Clinical, neuropathological, and biochemical findings
25. Spinocerebellar ataxia type1 with multiple system degeneration and glial cytoplasmic inclusions
26. Electrophysiological features of central motor conduction in spinocerebellar atrophy type 1, type 2, and Machado-Joseph disease
27. Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family
28. Neuro-otological and neuropathological findings in two cases with Machado-Joseph disease
29. Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I
30. Electro-oculogram in multiple system and late onset cerebellar atrophies
31. Neurology of saccades and smooth pursuit
32. Clinicopathological study of the peripheral nervous system in Machado-Joseph disease
33. Electrophysiological findings in a Danish family with Machado-Joseph disease
34. Evoked potential in clinical Medicine
35. Auditory brainstem response and somatosensory evoked potential in Machado-Joseph disease in Japanese families
36. The peripheral neuropathy in Machado-Joseph disease
37. Type III Machado-Joseph disease in a Japanese family: A clinicopathological study with special reference to the peripheral nervous system
38. Machado-Joseph disease in three Scandinavian families
39. Age related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD)
40. Transcranial magnetic stimulation in patients with cerebellar stroke