Diagnosis of Huntington's disease requires combination of clinical symptoms, radiological changes, genetic diagnosis

Huntington's disease is an autosomal-dominant inherited neurodegenerative disease with a distinct phenotype, but the pathogenesis is unclear. Although patients with a family history have more typical clinical symptoms, signs, and pathological changes, as well as an unambiguous clinical diagnosis, other diseases with dance-like movements, e.g., dentatorubral-pallidoluy-sian atrophy, spinocerebellar ataxia type 17, Huntington's disease-like-2, and neuroferritinopathy, are difficult to identify and distinguish from Huntington's disease.

By mutation screening for CAG repeats in the Huntington's disease-associated candidate gene, IT15, using reverse transcription-polymerase chain reaction, T-A cloning, and sequencing, Dr. Mingxia Yu and coworkers from Zhongnan Hospital of Wuhan University in China provide a global analysis incorporating clinical symptoms, imaging examinations, and gene diagnosis, of Huntington's disease. Their findings, published in the Neural Regeneration Research (Vol. 9, No. 4, 2014), suggest that clinical diagnosis of Huntington's disease requires a combination of clinical symptoms, radiological changes, and genetic diagnosis.