Am J Med Genet A. 2008 Mar 1;146A(5):593-600.

X-linked congenital ataxia: a new locus maps to Xq25-q27.1.

Zanni G, Bertini E, Bellcross C, Nedelec B, Froyen G, Neuhäuser G, Opitz JM, Chelly J.

Source

Institut Cochin, Université Paris Descartes, CNRS (UMR 8104) Paris, France. zanni@cochin.inserm.fr

Abstract

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.

PMID:: 18241076; [PubMed - indexed for MEDLINE]

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Cited by 1 PubMed Central article

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