Article
X-linked nonprogressive congenital cerebellar hypoplasia: clinical description and mapping to chromosome Xq.
Annals of neurology - 1 Jul 1996
Illarioshkin S N, Tanaka H, Markova E D, Nikolskaya N N, Ivanova-Smolenskaya I A, Tsuji S
Abstract excerpt
We examined a large family in which an X-linked recessive congenital ataxia manifested in 7 males from three generations. The affected boys first exhibited a marked delay of early developmental motor milestones. A neurological syndrome became evident by 5 to 7 years of age and included cerebellar...
Topics
- Adolescent
- Adult
- Alleles
- Cerebellar Ataxia
- Cerebellum
- Child
- Chromosomes, Human, Pair 11
- Dysarthria
- Haplotypes
- Humans
- Magnetic Resonance Imaging
- Middle Aged
- Ophthalmoplegia
- Pedigree
- Polymerase Chain Reaction
- X Chromosome