Abstract

HUNTINGTON’S DISEASE: A RARE NEURODEGERATIVE DISORDER

Dr. Azmath Unnisa Begum* and Javeria Fathima

Abstract

Huntington‘s disease (HD) is a rare neurodegenerative disorder of the central nervous system, with a genetic autosomal-dominant inheritance, that first involves basal ganglia (caudate nucleus and putamen) and results from expansion of a CAG trinucleotide repeat in the HTT (huntingtin) gene: alleles with 40 or more repeats are fully penetrant. The disease is characterized by motor, cognitive and psychiatric disorders, and a range of somatic symptoms. The classic sign is Chorea that gradually spreads to all muscles. Mean age onset of symptoms is 30-50 years. In some cases symptoms start before the age of 20 years with behavior disturbances and learning difficulties at school (Juvenile Huntington‘s Disease). Progressive worsening leads to a bedridden state with cognitive deterioration. The prevalence of the clinical syndrome is 37:100,000 whereas nearly 20:10,000are carriers of the gene responsible for the disease. Death occurs about 20 years after the onset of symptoms. More than a century after the first description of Huntington‘s disease (HD), there is still no curative treatment of the disease; however, symptomatic treatments are thought to be efficacious in controlling some of its troublesome symptoms. Yet, symptomatic management of HD remains inadequately documented, which may lead to variations in care mainly based on clinical experience and not on scientific evidence. HD is presently the most widely studied genetic neurodegenerative disease that has diagnostic and predictive genetic testing, with the possibility of gene-targeted therapy in the near future. Scientifically supported and consensual pharmacological, surgical and non-pharmacological recommendations for the treatment of HD have been provided.

Keywords: Huntington‘s disease (HD), Neurodegenerative disorder, Genetic autosomal-dominant inheritance, Basal ganglia (caudate nucleus and putamen), CAG trinucleotide, HTT (huntingtin), Motor, cognitive and psychiatric disorders, Chorea, Juvenile Huntington‘s