Work

The Clinical Manifestation of Homozygous Huntington's Disease

Year: 2026

Type: article

Abstract: ABSTRACT Huntington's disease is an incurable neurodegenerative disease with deficits in many areas including cognitive, psychiatric, and most notably, motor. It is autosomal dominant, meaning one affected allele is enough to express the condition. Although very severe, it usually presents in middle age, meaning those affected often have children before becoming symptomatic. Most with the condition are heterozygous, as it is relatively rare and therefore very uncommon to have two parents with the condition, and rarer still to inherit both faulty alleles. As a result, the data on the clinical manifestation of homozygous Huntington's Disease is sparse, and there is uncertainty in comparing it to heterozygous Huntington's Disease. This case of a 34‐year‐old white homozygous female aimed to contribute to the small existing database, especially given her case aligns with findings from a previous homozygous Huntington's study in terms of onset and clinical course.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.72269

Authors: Brishti Sengupta, Pritha Dasgupta

Institutions: University of Dundee, Ninewells Hospital, Stratheden Hospital

Language: English

Topic: Genetic Neurodegenerative Diseases

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,820