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Clin Genet. 1992 Jun;41(6):281-4.

Familial spastic paraplegia with neuropathy and poikiloderma. A new syndrome?

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  • 1Unidad de Genética Humana, Hospital Universitario Virgen del Rocío, Seville, Spain.

Abstract

We report a case study spanning three generations of familial spastic paraplegia, distal amyotrophy and poikiloderma. This study is the first description of an association between these three disorders. The gait disorder, the sensory and motor involvement and the skin disorder coincide in all the affected members, suggesting autosomal dominant inheritance with complete penetrance.

PMID:
1623621
[PubMed - indexed for MEDLINE]
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