title: A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1.
abstract: We investigated a French family with a new type of autosomal dominant spinocerebellar ataxia that was excluded from all previously identified genes and loci. The patients exhibited a slowly progressive gait and limb ataxia variably associated with akinesia, rigidity, tremor, and hyporeflexia. A mild cognitive impairment also was observed in some cases. We performed a genomewide search and found significant evidence for linkage to chromosome 7p21.3-p15.1. Analysis of key recombinants and haplotype reconstruction traced this novel spinocerebellar ataxia locus to a 24cM interval flanked by D7S2464 and D7S516.
authors.affiliation: Unité Fonctionnelle de Neurobiologie, Laboratoire de Biochimie et Biologie moléculaire, Hôpital R. Salengro, Centre Hospitalier Régional et Universitaire, Boulevard du Professeur Leclerc, 59037 Lille Cedex, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Vuillaume
authors.forename: David
authors.initials: D
authors.lastname: Devos
authors.forename: Susanna
authors.initials: S
authors.lastname: Schraen-Maschke
authors.forename: Christian
authors.initials: C
authors.lastname: Dina
authors.forename: Arnaud
authors.initials: A
authors.lastname: Lemainque
authors.forename: Francis
authors.initials: F
authors.lastname: Vasseur
authors.forename: Guy
authors.initials: G
authors.lastname: Bocquillon
authors.forename: Patrick
authors.initials: P
authors.lastname: Devos
authors.forename: Carole
authors.initials: C
authors.lastname: Kocinski
authors.forename: Christiane
authors.initials: C
authors.lastname: Marzys
authors.forename: Alain
authors.initials: A
authors.lastname: Destée
authors.forename: Bernard
authors.initials: B
authors.lastname: Sablonnière
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005121:Extremities / Q000503:physiopathology; D005260:Female; D005684:Gait; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008297:Male; D010375:Pedigree; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000503:physiopathology