Neurology: Mental and cognitive symptoms are common among Huntington's disease gene carriers

Huntington's disease (HD) is a degenerative disease of the central nervous system, which is caused by CAG repeat expansion (>35 CAGs) in the Huntingtin gene.

The loss of neurons in the brain leads to progressive motor abnormalities, cognitive decline and eventually death.

In this way, Branduff McAllister and others of Cardiff University in the United Kingdom used the HD Clinical Characteristics Questionnaire (HD -CCQ) Collected retrospective data on the prevalence and time of 8 types of motor, cognitive and psychiatric symptoms in HD patients.

These data come from the European REGISTRY study, which analyzed the clinical characteristics of 6,316 HD patients from 161 locations in 17 countries.

They found that as the age of onset increases, the initial manifestations of HD are more likely to be motor symptoms, and less psychiatric symptoms, and have nothing to do with the length of the pathogenic CAG repeat.

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This pooled study of thousands of people revealed that among HD gene carriers, mental and cognitive symptoms are common, and they are functionally debilitating.