منابع مشابه
Neuropathology: Many Paths Lead to Hereditary Spastic Paraplegia
Studies with animal models are providing new insights into the pathology of hereditary spastic paraplegia, particularly how mutations in multiple, converging pathways can lead to this family of neuropathies.
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...
متن کاملHereditary Spastic Paraplegia.
111 families, and Paskind and Stone (1933) also summarized the literature with accounts of another 36 reports from 40 families. Since then about 50 further reports have appeared, covering some 60 families, bringing the total so far to 176 reports of 215 families. Of these the majority have originated in Germany or elsewhere in Europe, but with a substantial number from the Americas. In Britain,...
متن کاملFamilial spastic paraplegia with Kallmann's syndrome.
A sibship is reported in which two males have spastic paraparesis and Kallmann's syndrome (hypogonadotrophic hypogonadism and anosmia). One of the brothers also is color blind. The association of familial spastic paraplegia and Kallmann's syndrome has not been described previously.
متن کاملnetherton’s syndrome associated with progressive spastic paraplegia
nethertons syndrome consists of the combination of ichthyosis, eczema, and abnormal hair and presents within the first 10 days of life with erythroderma. other reported features are short stature, mental retardation, and seizures. allergy to nuts and fish is also common amongst patients. mutations in the spink5 gene on 5q are reported in patients with nethertons syndrome. to the best of our kno...
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ژورنال
عنوان ژورنال: Proceedings of the Royal Society of Medicine
سال: 1926
ISSN: 0035-9157
DOI: 10.1177/003591572601900924