TY - JOUR
T1 - X-linked congenital ataxia
T2 - A new locus maps to Xq25-q27.1
AU - Zanni, Ginevra
AU - Bertini, Enrico
AU - Bellcross, Cecelia
AU - Nedelec, Brigitte
AU - Froyen, Guy
AU - Neuhäuser, Gerhard
AU - Opitz, John M.
AU - Chelly, Jamel
PY - 2008/3/1
Y1 - 2008/3/1
N2 - 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.
AB - 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.
KW - Cerebellar hypoplasia
KW - Linkage analysis
KW - X-linked congenital ataxia
KW - Xq25-q27.1
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U2 - 10.1002/ajmg.a.32186
DO - 10.1002/ajmg.a.32186
M3 - Article
C2 - 18241076
AN - SCOPUS:43049145563
VL - 146
SP - 593
EP - 600
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 5
ER -