Synopsis Huntington's disease (HD) is a rare, severe, and complex genetic disease characterized by a triad of motor, cognitive and psychiatric symptoms that progress over time. 1 In HD, the emergence of clinical manifestations is progressive, escalating until the physician is confident that a diagnosis is warranted. 2 The heterozygous expansion of the CAG trinucleotide repeat in the HTT gene induces the autosomal dominant HD. The disease is thought to be caused due to 36 or more CAG repeats.
Overall, 36–39 repeats are categorized as reduced‐penetrance HD‐causing alleles, and 40 or more repeats are identified as complete‐penetrance HD‐causing alleles. 3 This ‘Journal Watch’ presents the study, “Clinical Profile of Genetically Proven Huntington's Disease Patients from Eastern India” , from the Annals of Indian Academy of Neurology, February 2020 . 4 Authors: Hussain Z, et.al Aim of the…
