Medindia

X

Genetic Diagnosis can Rule Out Suspected Huntington's Disease

by Bidita Debnath on  May 6, 2014 at 11:40 AM Research News   - G J E 4
Huntington's disease is an autosomal-dominant inherited neurodegenerative disease with a distinct phenotype. But the pathogenesis is very much unclear.
 Genetic Diagnosis can Rule Out Suspected Huntington's Disease
Genetic Diagnosis can Rule Out Suspected Huntington's Disease
Advertisement

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.

Advertisement
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.

Source: Eurekalert
Advertisement

Post your Comments

Comments should be on the topic and should not be abusive. The editorial team reserves the right to review and moderate the comments posted on the site.
User Avatar
* Your comment can be maximum of 2500 characters
Notify me when reply is posted I agree to the terms and conditions

You May Also Like

Advertisement
View All