A Novel Mutation in Neurodegeneration with Brain Iron Accumulation - A Case Report

We present a 12-year-old boy with a one and a half-year history of a slow, progressive gait disturbance. An MRI of his brain revealed T2, FLAIR bilateral symmetrical hypointensities in globus pallidus and substantia nigra s/o NBIA. His genetic analysis revealed a novel homozygous missense variation in exon 2 of the C19orf12 gene (chr19:30199203; A>C) that results in the amino acid substitution of valine for phenylalanine at codon 51 (p.F51V; ENST00000392278). This is consistent with the MPAN (mitochondrial membrane protein-associated neurodegeneration) subtype.

Source: Neurology India - November 18, 2019 Category: Neurology Authors: Sundarachary Nagarjunakonda Rajeswari Daggumati Veeramma Uppala Ramakrishna Gajula Sridhar Amalakanti Source Type: research