Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome.
نویسندگان
چکیده
منابع مشابه
Prevalence of peripheral neuropathy in patients with HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP).
UNLABELLED While the most common neurological disorder associated with Human T lymphotropic virus type-1 (HTLV-1) infection in the endemic areas is HTLV-1 associated myelopathy also know as tropical spastic paraparesis (HAM/TSP), other disorders such as optic neuropathy, peripheral neuropathy and cerebellar diseases have also been reported in patient with this infection. In this paper, we studi...
متن کاملHereditary spastic paraparesis: a review of new developments.
Hereditary spastic paraparesis (HSP) or the Strümpell-Lorrain syndrome is the name given to a heterogeneous group of inherited disorders in which the main clinical feature is progressive lower limb spasticity. Before the advent of molecular genetic studies into these disorders, several classifications had been proposed, based on the mode of inheritance, the age of onset of symptoms, and the pre...
متن کاملTropical spastic paraparesis.
Human T-cell lymphotropic virus type I (HTLV-I) is the cause of endemic tropical spastic paraparesis (TSP) or HTLV-I-associated myelopathy (HAM). Because TSP/HAM is not a fatal disease, the neuropathology of this disease, albeit relatively well understood, is based on the examination of just a few incidental cases. We summarise our experience with the neuropathology of tropical spastic parapare...
متن کاملSPG20 mutation in three siblings with familial hereditary spastic paraplegia
Troyer syndrome (MIM#275900) is an autosomal recessive form of complicated hereditary spastic paraplegia. It is characterized by progressive lower extremity spasticity and weakness, dysarthria, distal amyotrophy, developmental delay, short stature, and subtle skeletal abnormalities. It is caused by deleterious mutations in the SPG20 gene, encoding spartin, on Chromosome 13q13. Until now, six un...
متن کاملFamilial spinocerebellar ataxia with skin hyperpigmentation.
Previous reports have shown the association between familial spastic paraplegia and hypopigmentation of the skin. A family is reported in which three siblings presented with progressive spastic paraparesis and cerebellar ataxia. All the siblings had large hyperpigmented naevi of the lower extremities while none of the unaffected members had a skin lesion. A definite association appears to exist...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1980
ISSN: 0022-3050
DOI: 10.1136/jnnp.43.11.962