Madhu Nagappa, Shivani Sharma, Periyasamy Govindaraj, Yasha T Chickabasaviah, Ramesh Siram, Akhilesh Shroti, Doniparthi V Seshagiri, Monojit Debnath, Sanjib Sinha, Parayil S Bindu, Arun B Taly
BACKGROUND: SH3TC2 variations lead to demyelinating recessive Charcot-Marie-Tooth (CMT) disease, which is commonly associated with early-onset scoliosis and cranial neuropathy. Data from Indian ethnicity is limited. OBJECTIVE: We aim to report the characteristics of patients with SH3TC2-associated neuropathy from an Indian cohort. PATIENTS AND METHODS: Data of five unrelated subjects with SH3TC2 variations were analyzed. RESULTS: Clinical features included female predominance (n = 4), early-onset neuropathy (n = 2), pes cavus and hammer toes (n = 4), kyphoscoliosis (n = 1), impaired vision and hearing (n = 1), facial muscle weakness (n = 1), impaired kinaesthetic sense (n = 3), tremor (n = 2), and ataxia (n = 1)...
2023: Neurology India