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Benign hereditary chorea Clinical and genetic aspects
Author(s) -
Harper Peter S.
Publication year - 1978
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1978.tb04133.x
Subject(s) - chorea , penetrance , disease , genetic counseling , genetic disorder , huntington's disease , choreiform movement , medicine , inheritance (genetic algorithm) , genetic inheritance , psychiatry , pediatrics , genetics , pathology , biology , dyskinesia , gene , parkinson's disease , phenotype
Five patients from two families in Wales are described who have a benign disorder characterized by lifelong, non‐progressive choreic movements, but without mental deterioration or other features of Huntington's disease. The clinical picture and natural history of this specific disorder are discussed, with particular emphasis on its distinction from Huntington's disease. Genetic data from previously reported kindreds are reviewed, and it is concluded that the disorder follows autosomal dominant inheritance, with reduced penetrance in the female. The importance is stressed of recognizing this disorder and not confusing it with Huntington's disease, if serious errors in prognosis and genetic counselling are to be avoided.