Title: X-linked congenital ataxia: a new locus maps to Xq25-q27.1
Authors: Zanni, Ginevra ×
Bertini, Enrico
Bellcross, Cecelia
Nedelec, Brigitte
Froyen, Guido
Neuhäuser, Gerhard
Opitz, John M
Chelly, Jamel #
Issue Date: Mar-2008
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics A vol:146A issue:5 pages:593-600
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.
ISSN: 1552-4825
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Molecular Genetics Section (-)
Human Genome Laboratory
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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