X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg.
نویسندگان
چکیده
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.
منابع مشابه
X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.
X linked hereditary spastic paraplegia is a rare condition that has been divided into two forms (the pure spastic form and the complicated form) as a function of clinical course and severity. A gene for pure hereditary spastic paraplegia (SPG2) has been mapped to the proximal long arm of the X chromosome (Xq21) by linkage to the DXS17 locus, while a gene for a complicated form of the disease ha...
متن کاملFurther evidence for a fourth gene causing X-linked pure spastic paraplegia.
X-linked hereditary spastic paraplegias (HSPs) present with two distinct phenotypes: pure and complicated. The pure form is characterized by slowly progressive weakness and spasticity of the lower limbs, whereas the complicated forms have additional features (optic neuropathy, retinopathy, extrapyramidal disturbance, dementia, epilepsy, ataxia, ichthyosis, mental retardation, and deafness). Thr...
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Hereditary spastic paraplegia (HSP) includes a heterogeneous group of degenerative disorders of the central motor system characterised by progressive spasticity of the lower limbs. The inheritance may be autosomal dominant (AD), autosomal recessive (AR), or X linked. Clinically, two forms of HSP can be distinguished: a pure form, with leg spasticity and weakness, and a complicated form, with ot...
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متن کاملHereditary spastic paraplegia.
Hereditary spastic paraplegia (HSP) or Strümpell-Lorrain syndrome is a heterogeneous group of inherited disorders, with prevalence ranged from 4.3 to 9.6 cases per 100,000 population. A common feature of these disorders is the slowly progressive and often severe spasticity, noticeably especially in the low limbs. Conventionally, HSP is divided into two clinical groups, uncomplicated (pure spast...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 13 3 شماره
صفحات -
تاریخ انتشار 1976