Sundarapandian Narendiran, Monojit Debnath, Sumanth Shivaram, Ramakrishnan Kannan, Shivani Sharma, Rita Christopher, Doniparthi V Seshagiri, Sanjeev Jain, Meera Purushottam, Sandhya Mangalore, Rose Dawn Bharath, Parayil Sankaran Bindu, Sanjib Sinha, Arun B Taly, Madhu Nagappa
The Hereditary Spastic Paraplegias (HSPs) are a group of clinically and genetically heterogeneous disorders characterized by length dependent degeneration of the corticospinal tracts. Genetic data related to HSPs are limited from India. We aimed to comprehensively analyse the phenotypic characteristics and genetic basis of a large cohort of HSP from India. Patients with HSP phenotype were evaluated for their clinical features, electrophysiological and radiological abnormalities. Genetic analyses were carried out by clinical exome sequencing ( n = 52) and targeted sequencing ( n = 5)...
March 2022: Journal of Neurogenetics