Pigmentary macular dystrophy in spinocerebellar ataxia type 1 [1]

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 77, Issue 11, 2006, Pages 1293-

  Saito, Y ^a   Matsumura, K ^a   Shimizu, S ^a   Ichikawa, Y ^b   Ochiai, K ^a   Goto, J ^c   Tsuji, S ^c   Shimizu, T ^a  

^a TEIKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c KYOTO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIN 1; ATAXIN 7; GENOMIC DNA;

ADULT; ANAMNESIS; CASE REPORT; CLINICAL FEATURE; GENETIC ANALYSIS; HUMAN; LETTER; MALE; NEUROLOGIC EXAMINATION; OPHTHALMOSCOPY; PIGMENT DISORDER; PRIORITY JOURNAL; RADIODIAGNOSIS; RETINA MACULA DEGENERATION; SPINOCEREBELLAR DEGENERATION; VISUAL IMPAIRMENT;

DIAGNOSIS, DIFFERENTIAL; HUMANS; MACULAR DEGENERATION; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; SPINOCEREBELLAR ATAXIAS;

EID: 33750461584     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2006.092676     Document Type: Letter

References (5)

1. Banfi S, Chung MY, Duvick LA, et al. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet 1994;7:513-20.
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3. Abe T, Abe K, Tsuda T, et al. Ophthalmological findings in patients with spinocerebellar ataxia type 1 are not correlated with neurological anticipation. Graefe's Arch Clin Exp Ophthalmol 2001;239:722-8.
4. Enevoldson TP, Sanders MD, Harding AE. Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families. Brain 1994;117:445-60.
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.