Article
Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.
American journal of medical genetics. Part A - 1 Mar 2025
Kaur Namanpreet, do Rosario Michelle C, Majethia Purvi, Mascarenhas Selinda, Rao Lakshmi Priya, Nair Karthik Vijay, Hunakunti Bhagesh, Prasannakumar Adarsh Pooradan, Naik Rohit, Narayanan Dhanya Lakshmi, Nayak Shalini S, Bhat Vivekananda, Sharma Suvasini, Ramesh Bhat Y, Yatheesha B L, Kulkarni Rajesh, Patil Siddaramappa J, Nampoothiri Sheela, Siddiqui Shahyan, Girisha Katta Mohan, Bielas Stephanie, Shukla Anju
Abstract excerpt
Several genetic disorders are associated with either a permanent deficit or a delay in central nervous system myelination. We investigated 24 unrelated families (25 individuals) with deficient myelination after clinical and radiological evaluation. A combinatorial approach of targeting and/or genomic testing was employed. Molecular diagnosis was achieved in 22 out of 24 families (92%). Four families (4/9, 44%)...
Topics
- Humans
- Male
- Female
- India
- Child
- Child, Preschool
- Neuroimaging
- Adolescent
- Genotype