Manifesting heterozygosity in sex-linked spastic paraplegia?

Manifesting heterozygosity in sex-linked spastic paraplegia?

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.

Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.

We report the clinical features of 12 families with autosomal dominant spastic paraplegia (ADSP) linked to the SPG4 locus on chromosome 2p, the major locus for this disorder that accounts for approximately 40% of the families. Among 93 gene carriers, 32 (34%) were unaware of symptoms but were clinically affected. Haplotype reconstruction showed that 90% of the asymptomatic gene carriers present...

Manifesting heterozygosity in Norrie's disease?

Accepted for publication 29 June 1993 It is well recognised that Norrie's disease is an X linked disorder causing blindness in early infancy, often in association with hearing loss and/or psychomotor retardation.' The diagnosis is established by the finding of congenital pseudoglioma in a male infant with either typical systemic features or a family history of congenital blindness in male relat...

Hereditary 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...

Spastic Paraplegia in Middle Age.