Huntington's Disease with Small CAG Repeat Expansions.
Anna HeinzmannSabrina SayahFrançois-Xavier LejeuneValérie HahnMarc TeichmannMarie-Lorraine MoninEnrica MarchionniFleur GérardPerrine CharlesJérémie ParienteAlexandra DürrPublished in: Movement disorders : official journal of the Movement Disorder Society (2023)
expansions. These individuals may evade molecular diagnosis because of the absence of chorea rather than because of a low penetrance of symptoms. This finding should encourage neurologists to consider Huntington's disease in cognitively impaired elderly patients without typical chorea and anticipate consequences for genetic counseling in their offspring. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.