A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1.
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.
Vuillaume
Isabelle
I
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.
Devos
David
D
Schraen-Maschke
Susanna
S
Dina
Christian
C
Lemainque
Arnaud
A
Vasseur
Francis
F
Bocquillon
Guy
G
Devos
Patrick
P
Kocinski
Carole
C
Marzys
Christiane
C
Destée
Alain
A
Sablonnière
Bernard
B
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