X-linked congenital ataxia: A clinical and genetic study

Enrico Bertini, Vincent Des Portes, Ginevra Zanni, Filippo Santorelli, Carlo Dionisi-Vici, Stefano Vicari, Giuseppe Fariello, Jamel Chelly

Research output: Contribution to journalArticlepeer-review

Abstract

We report on a family in which two males are affected with X-linked congenital ataxia (XCA). Clinical manifestations include severe hypotonia at birth, delay of early motor development, slow eye movements, and nonprogressive cerebellar ataxia. The neurological examination excluded a neuromuscular disease, mental retardation, and pyramidal tract involvement. Neuroimaging showed global cerebellar atrophy in both patients that was not evident in the first years of life. The clinical findings in this family are very similar to those in a Russian pedigree [Illarioskin et al., 1996: Ann Neurol 40:75-83] and outline a recognizable phenotype. Linkage studies in our family, using 28 highly polymorphic Genethon microsatellite markers evenly distributed along the X chromosome, excluded a 24 cM interval between DXS990 and DXS424 located within the previous candidate region of 54 cM, reducing the critical interval. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)53-56
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume92
Issue number1
DOIs
Publication statusPublished - May 1 2000

Keywords

  • Cerebellar development
  • Congenital ataxia
  • X chromosome

ASJC Scopus subject areas

  • Genetics(clinical)

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