X-linked congenital ataxia: a new locus maps to Xq25-q27.1.
We report clinical and molecular studies on a large American family of Norwegian descent with X-linked nonprogressive congenital ataxia (XCA) in six affected males over three generations. Neuroimaging showed global cerebellar hypoplasia without evidence of supratentorial anomalies. Linkage analysis resulted in a maximum LOD score Z = 3.44 for marker DXS1192 at Theta = 0.0 with flanking markers DXS1047 and DXS1227 defining a region of 12 cM in Xq25-q27.1. The clinical and neuroradiological findings in the present family are very similar to those described in two reported X-linked families [Illarioshkin et al., 1996; Bertini et al., 2000]; however, the newly identified locus does not overlap with the one defined previously, indicating that there are at least two genes responsible for this rare form of X-linked congenital cerebellar ataxia with normal intelligence.
Zanni
Ginevra
G
Institut Cochin, Université Paris Descartes, CNRS (UMR 8104) Paris, France. zanni@cochin.inserm.fr
Bertini
Enrico
E
Bellcross
Cecelia
C
Nedelec
Brigitte
B
Froyen
Guy
G
Neuhäuser
Gerhard
G
Opitz
John M
JM
Chelly
Jamel
J
D001259:Ataxia / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics*; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics*; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008297:Male; D010375:Pedigree