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X‐linked congenital ataxia: A new locus maps to Xq25‐q27.1
Author(s) -
Zanni Ginevra,
Bertini Enrico,
Bellcross Cecelia,
Nedelec Brigitte,
Froyen Guy,
Neuhäuser Gerhard,
Opitz John M.,
Chelly Jamel
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32186
Subject(s) - locus (genetics) , ataxia , norwegian , genetics , cerebellar hypoplasia (non human) , cerebellar ataxia , genetic linkage , biology , gene , cerebellum , neuroscience , philosophy , linguistics
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 θ = 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. © 2008 Wiley‐Liss, Inc.