Neurologic findings in Machado-Joseph disease: Relation with disease duration, subtypes, and (CAG)n

Archives of Neurology

Volumn 58, Issue 6, 2001, Pages 899-904

  Jardim, Laura B ^a,b   Pereira, Maria L ^a,b   Silveira, Isabel ^c   Ferro, Anabela ^c   Sequeiros, Jorge ^c   Giugliani, Roberto ^a,b  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^c UNIVERSITY OF PORTO   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; ATAXIA; AUTOSOMAL DOMINANT DISORDER; BRADYKINESIA; CASE CONTROL STUDY; CHROMOSOME 14Q; CONTROLLED STUDY; CORRELATION FUNCTION; DISEASE DURATION; DISEASE SEVERITY; DYSARTHRIA; DYSPHAGIA; DYSTONIA; EXTRAPYRAMIDAL SYMPTOM; EYELID RETRACTION; FASCICULATION; FEMALE; HUMAN; MACHADO JOSEPH DISEASE; MAJOR CLINICAL STUDY; MALE; NYSTAGMUS; OPHTHALMOPLEGIA; OPTIC NERVE ATROPHY; OUTCOMES RESEARCH; PRIORITY JOURNAL; RIGIDITY; SPINOCEREBELLAR DEGENERATION;

EID: 0034971210     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.58.6.899     Document Type: Article

References (20)

1. Machado disease: A hereditary ataxia in Portuguese emigrants to Massachussetts
2. Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia: A unique and partially treatable clinico-pathological entity
3. Autosomal dominant striatonigral degeneration: A clinical, pathologic, and biochemical study of a new genetic disorder
4. Autosomal dominant system degeneration in Portuguese families of the Azores islands: A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions
5. Epidemiology and clinical aspects of Machado-Joseph disease
6. The natural history of degenerative ataxia: A retrospective study in 466 patients
7. The gene for Machado-Joseph disease maps to human chromosome 14q
8. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
9. Autosomal dominant motor system disease of the Portuguese: A review
10. Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: Confirmation of 14q CAG expansion
11. Pure cerebellar ataxia phenotype in Machado-Joseph disease
12. Machado-Joseph disease: A proposal of spastic paraplegic subtype
13. Machado-Joseph disease presenting as severe asymmetric proximal neuropathy
14. Correlation between CAG repeat length and clinical features in Machado-Joseph disease
15. Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease
16. Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families
17. The natural history of Machado-Joseph disease: An analysis of 138 personally examined cases
18. Age-related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease