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

Author: G Zanni Affiliation: Institut Cochin, Université Paris Descartes, CNRS (UMR 8104) Paris, France. zanni@cochin.inserm.frE BertiniC BellcrossB NedelecG FroyenAll authors
Edition/Format: Article Article : English
Publication:American journal of medical genetics. Part A, 2008 Mar 01; 146A(5): 593-600
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Summary:
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  Read more...
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Document Type: Article
All Authors / Contributors: G Zanni Affiliation: Institut Cochin, Université Paris Descartes, CNRS (UMR 8104) Paris, France. zanni@cochin.inserm.fr; E Bertini; C Bellcross; B Nedelec; G Froyen; G Neuhäuser; JM Opitz; J Chelly
ISSN:1552-4825
Language Note: English
Unique Identifier: 264059469
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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.

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