Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats

Neurology

Volumn 67, Issue 8, 2006, Pages 1479-1481

  Ito, H ^a   Kawakami, H ^a,d   Wate, R ^a   Matsumoto, S ^b   Imai, T ^c   Hirano, A ^e   Kusaka, H ^a,d  

^a KANSAI MEDICAL UNIVERSITY   (Japan)

^b Kitano Hospital   (Japan)

^c Shiroyama Hospital   (Japan)

^d HIROSHIMA UNIVERSITY   (Japan)

^e MONTEFIORE MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; GENOMIC DNA;

ADULT; ARTICLE; ATAXIA; CASE REPORT; CLINICAL FEATURE; CYTOPATHOLOGY; DNA EXTRACTION; HUMAN; HUMAN CELL; INFERIOR OLIVE; MALE; NERVE DEGENERATION; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIAQUEDUCTAL GRAY MATTER; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PURKINJE CELL; SPINOCEREBELLAR ATAXIA TYPE 8; TANDEM REPEAT; WECHSLER INTELLIGENCE SCALE;

ADULT; BRAIN; FATAL OUTCOME; GENOTYPE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; NERVE TISSUE PROTEINS; NEUROFILAMENT PROTEINS; PHOSPHORYLATION; PURKINJE CELLS; SPINOCEREBELLAR ATAXIAS; SPINOCEREBELLAR DEGENERATIONS; SYNAPTOPHYSIN; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 33750370551     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000240256.13633.7b     Document Type: Article

References (10)

1. Koob MD, Moseley ML, Schut LJ, et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 1999;21:379-384.
2. Day JW, Schut LJ, Moseley ML, Durand AC, Ranum LPW. Spinocerebellar ataxia type 8: clinical features in a large family. Neurology 2000;55:649-657.
3. Stevanin G, Herman A, Durr A, et al. Are (CTG)n expansions at the SCA8 locus rare polymorphisms? Nat Genet 2000;24:213.
4. Worth PF, Houlden H, Giunti P, Davis MB, Wood NW. Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia. Nat Genet 2000;24:214-215.
5. Ikeda Y, Moseley ML, Dalton JC et al. Purkinje cell degeneration and 1C2 positive neuronal intranuclear inclusions in SCA8 patients. American Society of Human Genetics Annual Meeting 2004. Abstract/session information for program no. 2438. Abstract.
6. Izumi Y, Maruyama H, Oda M, et al. SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6. Am J Hum Genet 2003;72:704-709.
7. Owada K, Ishikawa K, Toru S, et al. A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III. Neurology 2005;65:629-632.
8. Gomez CM, Thompson RM, Gammack JT, et al. Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol 1997;42:933-950.
9. Rolfs A, Koeppen AH, Bauer I, et al. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol 2003;54:367-375.
10. Dorsman JC, Pepers B, Langenberg D, et al. Strong aggregation and increased toxicity of polyleucine over polyglutamine stretches in mammalian cells. Hum Mol Genet 2002;11:1487-1496.