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X-linked congenital ataxia: A clinical and genetic study

✍ Scribed by Bertini, Enrico; des Portes, Vincent; Zanni, Ginevra; Santorelli, Filippo; Dionisi-Vici, Carlo; Vicari, Stefano; Fariello, Giuseppe; Chelly, Jamel

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 25 KB
Volume: 92
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000501)92:1<53::aid-ajmg9>3.0.co;2-f

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✦ Synopsis

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 Généthon 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.

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