The first identified French family with dentatorubral-pallidoluysian atrophy

Movement Disorders

Volumn 15, Issue 5, 2000, Pages 996-999

  Özsancak, Canan ^a,b   Auzou, Pascal ^a   Hannequin, Didier ^a  

^a Fed des Sciences Neurologiques   (France)

^b ROUEN UNIVERSITY HOSPITAL   (France)

Author keywords

CAG repeat; Dentatorubral; Incomplete penetrance; Pallidoluysian atrophy

Indexed keywords

ADENINE; CLONAZEPAM; CYTOSINE; GUANINE; HYDANTOIN; PHENOBARBITAL; VALPROIC ACID;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CAUCASIAN; CLINICAL FEATURE; DENTATORUBROPALLIDOLUYSIAN ATROPHY; DIFFERENTIAL DIAGNOSIS; FAMILY; FAMILY HISTORY; FATHER; FEMALE; FOOT MALFORMATION; FRANCE; GENETIC ANALYSIS; HUMAN; HUNTINGTON CHOREA; LEUKOCYTE; MALE; MOLECULAR GENETICS; MOTHER; NEUROLOGIC DISEASE; PEDIGREE; PENETRANCE; POPULATION; PRIORITY JOURNAL; TANDEM REPEAT;

ADULT; AGED; CASE REPORT; DEMENTIA; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FEMALE; FRANCE; GENOTYPE; HUMAN; HUNTINGTON DISEASE; MALE; MOVEMENT DISORDERS; MUTATION; MYOCLONIC EPILEPSIES, PROGRESSIVE; PEDIGREE; PHENOTYPE; SUPPORT, NON-U.S. GOV'T; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 0033809386     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8257(200009)15:5<996::AID-MDS1036>3.0.CO;2-9     Document Type: Article

References (13)

1. Huntington disease and the related disorder, dentatorubral-pallidoluysian atrophy (DRPLA)
2. Dentatorubral-pallidoluysian atrophy: Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat
3. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
4. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
5. Dentatorubral and pallidoluysian atrophy (DRPLA). Clinical and neuropathological findings in genetically confirmed north American and European pedigrees
6. Clinical and molecular findings in the first identified Italian family with dentatorubral-pallidoluysian atrophy
7. Dentatorubro-pallidoluysian atrophy in a Spanish family: A clinical, radiological, pathological, and genetic study
8. Analysis of spinocerebellar ataxia types 1,2,3 and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK
9. Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6
10. Hereditary dentatorubral-pallidoluysian atrophy: Clinical and pathologic variants in a family
11. DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: Correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation
12. Sporadic cases of dentatorubral-pallidoluysian atrophy associated with maternal transmission
13. A sporadic case of dentatorubral pallidoluysian atrophy (DRPLA) with CAG repeat expansion but no clinical abnormalities in the father