Jaslovleen Kaur, Shaista Parveen, Uzma Shamim, Pooja Sharma, Varun Suroliya, Akhilesh Kumar Sonkar, Istaq Ahmad, Jyoti Garg, Kuljeet Singh Anand, Sanghamitra Laskar, Debashish Chowdhury, Suman Kushwaha, Vinay Goyal, Achal K Srivastava, Gagandeep Singh, Mohd Faruq
BACKGROUND: The diagnostic workup for choreiform movement disorders including Huntington's disease (HD) and those mimicking HD like phenotype is complex. OBJECTIVE: The aim of the present study was to genetically define HD and HD-like presentations in an Indian cohort. We also describe HTT-CAG expansion manifesting as neuroferritinopathy-like disorder in four families from Punjab in India. MATERIALS AND METHODS: 159 patients clinically diagnosed as HD and HD-like presentations from various tertiary neurology clinics were referred to our centre (CSIR-IGIB) for genetic investigations...
2020: Journal of Huntington's Disease