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

Ginevra Zanni, Enrico Bertini, Cecelia Bellcross, Brigitte Nedelec, Guy Froyen, Gerhard Neuhäuser, John M. Opitz, Jamel Chelly

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)593-600
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number5
DOIs
Publication statusPublished - Mar 1 2008

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Keywords

  • Cerebellar hypoplasia
  • Linkage analysis
  • X-linked congenital ataxia
  • Xq25-q27.1

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

Cite this

Zanni, G., Bertini, E., Bellcross, C., Nedelec, B., Froyen, G., Neuhäuser, G., Opitz, J. M., & Chelly, J. (2008). X-linked congenital ataxia: A new locus maps to Xq25-q27.1. American Journal of Medical Genetics, Part A, 146(5), 593-600. https://doi.org/10.1002/ajmg.a.32186