Manifesting heterozygosity in sex-linked spastic paraplegia?
نویسندگان
چکیده
An unusual form of hereditary spastic paraplegia is described. Affected females have a late-onset slowly progressive spastic paraparesis. Affected males show oligophrenia with a rapidly progressive spastic quadriplegia. The mode of inheritance is consistent with sex-linkage, with partial manifestation in female carriers.
منابع مشابه
X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg.
A family with 24 males affected by an X-linked type of spastic paraplegia is reported. Twelve affected members were personally examined showing the pure form of the disease. Half of the affected males had many descendants, all normal. Linkage studies strongly suggest that this X-linked form of spastic paraplegia and Xg loci are not at a measurable distance on the X chromosome.
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ورودعنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 47 3 شماره
صفحات -
تاریخ انتشار 1984