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The problem of isolated cases of Huntington's disease in South Wales 1974–1984
Author(s) -
Quarrell O. W. J.,
Tyler A.,
Cole G.,
Harper P. S.
Publication year - 1986
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.1399-0004.1986.tb01903.x
Subject(s) - huntington's disease , disease , medicine , clinical diagnosis , family history , pediatrics , death certificate , cause of death
A firm diagnosis of Huntington's Disease (HD) is based upon both clinical observation and a positive family history. 192 cases of HD occurred in South Wales over a 10 year period fitting both criteria but an additional 37 patients did not have affected relatives despite detailed enquiries. Twenty‐two of these were still thought to have HD on clinical grounds whilst this diagnosis was thought less likely for 15. Definite post‐mortem outcomes are known for 7 patients and the clinical diagnosis confirmed on 6 occasions. Details regarding these two groups are presented together with an additional case in which HD was given on the death certificate but a post‐mortem revealed a diagnosis of Kufs' disease.