The aim of this article was to analyze the clinical and genetic characteristics of a patient with Huntington's disease and her family. We analyzed the clinical data of a patient with Huntington's disease and her family members in the Department of Neurology of our hospital, drew the genetic pedigree, and used gene fragment analysis to detect and analyze the genes of three people in the family according to the principle of informed consent. The genetic pedigree of the family was consistent with that of autosomal dominant diseases. A total of five people in this family developed the disease, two died, and the main clinical manifestations were dystonia, ataxia, and cognitive impairment. Three people in this family underwent genetic testing, and two exhibited normal genotypes. The cytosine-adenine-guanine trinucleotide (CAG) repeats of the proband were abnormally amplified, and the number of repeats reached 43. The main clinical features of the patient included chronic obscure onset, obvious positive family genetic history, clinical features of involuntary limb movement with cognitive impairment, rapid disease progression, poor treatment effect, and abnormal amplification of CAG repeats as shown through genetic testing. All the above features met the diagnostic criteria of Huntington's disease.
Keywords: CAG repeat sequence; Huntington disease; clinical features; pedigree.
© 2022 The Authors. Ibrain published by Affiliated Hospital of Zunyi Medical University and Wiley‐VCH GmbH.