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Familial spastic paraplegia with neuropathy and poikiloderma. A new syndrome?
G Antiñolo1, M Nieto, S Borrego
1Unidad de Genética Humana, Hospital Universitario Virgen del Rocío, Seville, Spain.
Clinical Genetics
|June 1, 1992
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.