Adult onset cerebellar ataxia due to novel mutations in BRAT1

Abstract

BRAT 1 (BRCA1-associated ATM activator 1) variants were first reported in 2012 in newborns with lethal neonatal rigidity and multifocal seizure syndrome (RMFSL). They have also been associated with early onset neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS). More recently a milder phenotype characterized by nonprogressive cerebellar ataxia (NPCA) has been reported. We describe the case of a 66 year old woman with sporadic cerebellar ataxia, spasticity and mental retardation in whom we detected two novel mutations in BRAT1.