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Studies of the candidate genes in X-linked congenital cerebellar hypoplasia
S N Illarioshkin1, K M Allen, J G Gleeson
1Department of Neurogenetics, Institute of Neurology, Russian Academy of Medical Sciences, Moscow. neurolog@aha.ru
Journal of Neurology
|February 1, 2000
Abstract:
A gene for X-linked congenital cerebellar hypoplasia was recently localized to chromosome Xp11.21-q24. This region comprises several brain-specific genes responsible for various neurological disorders, including the proteolipid protein (PLP), doublecortin, and PAK3 genes. We screened these genes for mutations in patients with X-linked congenital cerebellar hypoplasia and found no pathogenic nucleotide changes or gene dose alterations. These findings allow the ruling out of PLP, doublecortin, and PAK3 as the disease-causing genes in this hereditary neurological syndrome.