Retinopathy associated with Machado-Joseph disease (spinocerebellar ataxia 3) with CAG trinucleotide repeat expansion

American Journal of Ophthalmology

Volumn 131, Issue 6, 2001, Pages 808-810

  Isashiki, Yasushi ^a   Kii, Yuya ^a   Ohba, Norio ^a   Nakagawa, Masanori ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BABINSKI REFLEX; BRAIN ATROPHY; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; EXTERNAL OPHTHALMOPLEGIA; EYE FUNDUS; EYE MOVEMENT DISORDER; FAMILY HISTORY; FLUORESCENCE ANGIOGRAPHY; GAIT DISORDER; HUMAN; MACHADO JOSEPH DISEASE; MALE; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OPHTHALMOSCOPY; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA MACULOPATHY; RETINOPATHY; SLURRED SPEECH; SPINOCEREBELLAR DEGENERATION; TRINUCLEOTIDE REPEAT;

EID: 0035019714     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(00)00891-6     Document Type: Article

References (5)

1. OMIM Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov/Omim/. June, 2000.
2. Watanabe M, Abe K, Aoki M, et al. Analysis of CAG trinucleotide expansion associated with Machado-Joseph disease. J Neurol Sci 1996;136:101-107.
3. Dürr A, Stevanin G, Cancel G, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol 1996;39:490-499.
4. Harding AE. Clinical features and classification of inherited ataxias. Adv Neurol 1993;61:1-14.
5. David G, Abbas N, Stevanin G, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997;17:65-70.