Decoding Huntington's disease: a global survey on symptoms and genetic testing practices.

ABSTRACT:

Background

Huntington's disease (HD) is a fatal, autosomal dominant neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the HTT gene. While chorea is the hallmark motor symptom, HD presents with diverse psychiatric and cognitive manifestations that usually precede motor onset.

Methods

A 10-question online survey was distributed to 130 neurologists and neuro-geneticists from the European Huntington's Disease Network (EHDN) to identify clinical symptoms considered pathognonomic of HD and criteria for genetic testing. Responses from 52 specialists were anonymized and analysed using Microsoft Excel and SPSS 26.

Results

Respondents, averaging 18.4 years of experience, universally identified chorea as indicative of HD, alongside cognitive slowing, i

SUBMITTER: Koriath CAM 

PROVIDER: S-EPMC12638385 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature