Severe infantile dentatorubral pallidoluysian atrophy with extreme expansion of CAG repeats

Neurology

Volumn 56, Issue 2, 2001, Pages 277-278

  Shimojo, Yuki ^a,c   Osawa, Y ^a   Fukumizu, M ^a   Hanaoka, S ^a   Tanaka, H ^b   Ogata, F ^b   Sasaki, M ^a   Sugai, K ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^b Shinrakuen Hospital   (Japan)

^c NAGASAKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CEREBELLAR ATAXIA; CHILD; CHOREOATHETOSIS; CLINICAL FEATURE; DENTATORUBROPALLIDOLUYSIAN ATROPHY; DISEASE COURSE; FEMALE; HUMAN; HYPERKINESIA; MALE; NUCLEOTIDE REPEAT; PATHOGENESIS; PRIORITY JOURNAL; RADIODIAGNOSIS;

EID: 0035936637     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.56.2.277     Document Type: Article

References (7)

1. Familial myoclonus epilepsy and choreoathetosls: Hereditary dentatorubral-pallidoluysian atrophy
2. Dentatorubral-pallidoluysian atrophy (DRPLA): Clinical features and molecular genetics
3. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
4. DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: Correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation
5. Spinocerebellar ataxia type 2 in an infant with extreme CAG repeat expansion
6. Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype
7. Coexistence of expanded CAG repeats in the MJD1a and DRPLA genes