Familial spinocerebellar ataxia with skin hyperpigmentation.
Open Access
- 1 August 1983
- journal article
- research article
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 46 (8) , 743-744
- https://doi.org/10.1136/jnnp.46.8.743
Abstract
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 between heredo-familial ataxias and disordered skin pigmentation, but the exact mechanism remains unclear.This publication has 4 references indexed in Scilit:
- Familial spastic paraplegia, peroneal neuropathy, and crural hypopigmentationNeurology, 1981
- Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome.Journal of Neurology, Neurosurgery & Psychiatry, 1980
- Neurological manifestations of xeroderma pigmentosum in two siblingsJournal of the Neurological Sciences, 1974
- Xeroderma PigmentosumAnnals of Internal Medicine, 1974