Infantile-onset syndromic cerebellar ataxia and CACNA1G mutations

Congenital ataxias associated with cerebellar atrophy are clinically heterogeneous conditions with different age of onset and diverse molecular basis. The hypothesis-free approach of genomic sequencing has led to the discovery of new genes implicated in these disorders and the identification of unexpected genotype-phenotype correlations. While a recurrent heterozygous mutation (p.Arg1715His) in CACNA1G is known to cause adult-onset spinocerebellar ataxia 42 (SCA42 *616795), gain of function mutations in this gene have recently been identified by WES in four children with cerebellar atrophy and ataxia, psychomotor delay and other variable features.

Source: Pediatric Neurology - October 18, 2019 Category: Neurology Authors: Sabina Barresi, Maria Lisa Dentici, Francesca Manzoni, Emanuele Bellacchio, Emanuele Agolini, Simone Pizzi, Andrea Ciolfi, Mark Tarnopolsky, Lauren Brady, Giacomo Garone, Antonio Novelli, Davide Mei, Renzo Guerrini, Alessandro Capuano, Chiara Pantaleoni, Tags: Original Articles Source Type: research