The p.Asp216His TOR1A allele effect is not found in the French population

Movement Disorders

Volumn 24, Issue 6, 2009, Pages 919-921

  Frédéric, Mélissa Yana ^a,b   Clot, Fabienne ^a,c,d   Blanchard, Arnaud ^a,b   Dhaenens, Claire Marie ^a,e   Lesca, Gaëtan ^f,g   Cif, Laura ^h   Dürr, Alexandra ^a,c,d   Vidailhet, Marie ^a,c,d   Sablonniere, Bernard ^a,e   Calender, Alain ^f,g   Martinez, Maria ^a   Molinari, Nicolas ⁱ   Brice, Alexis ^a,c,d   Claustres, Mireille ^a,b,j   Tuffery Giraud, Sylvie ^a,b   Collod Beroud, Gwenaëlle ^a,b  

^a INSERM   (France)

^b UNIV MONTPELLIER   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e LILLE UNIVERSITY HOSPITAL   (France)

^f EDOUARD HERRIOT HOSPITAL   (France)

^g UNIVERSITÉ LYON 1   (France)

^h MONTPELLIER UNIVERSITY HOSPITAL   (France)

ⁱ NÎMES UNIVERSITY HOSPITAL   (France)

^j HÔPITAL ARNAUD DE VILLENEUVE   (France)

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Author keywords

Dystonia; DYT1; Genetic modifiers; Movement disorders; Population studies; TOR1A

Indexed keywords

ASPARTIC ACID; HISTIDINE; NEUROPEPTIDE; PROTEIN TOR1A; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; DYSTONIA; FAMILY STUDY; FRANCE; GENE DELETION; GENE EXPRESSION; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENE REPLICATION; GENETIC LINKAGE; GENETIC VARIABILITY; HAPLOTYPE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; POPULATION GENETICS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; ASPARTIC ACID; DNA MUTATIONAL ANALYSIS; DYSTONIC DISORDERS; FRANCE; GENE FREQUENCY; HISTIDINE; HUMANS; MOLECULAR CHAPERONES; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 67651156086     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22407     Document Type: Article

References (6)

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2. Kock N, Naismith TV, Boston HE, et al. Effects of genetic variations in the dystonia protein torsinA: identi.cation of polymorphism at residue 216 as protein modi.er. Hum Mol Genet 2006; 15:1355-1364.
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4. Frederic MY, Clot F, Cif L, et al. Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France? Neurogenetics 2008;9:143-150.
5. Frederic M, Lucarz E, Monino C, et al. First determination of the incidence of the unique TOR1A gene mutation, c.907del-GAG, in a Mediterranean population. Mov Disord 2007;22: 884-888.
6. Kamm C, Fischer H, Garavaglia B, et al. Susceptibility to DYT1 dystonia in European patients is modi.ed by the D216H polymorphism. Neurology 2008;70:2261-2262.