Infantile-onset syndromic cerebellar ataxia and CACNA1G mutations
S Barresi, ML Dentici, F Manzoni, E Bellacchio… - Pediatric …, 2020 - Elsevier
Background Congenital ataxias associated with cerebellar atrophy are clinically
heterogeneous conditions with a variable age of onset and a 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. Although a recurrent heterozygous mutation (p. Arg1715His) in CACNA1G is
known to cause adult-onset spinocerebellar ataxia 42 (SCA42* 616795), gain-of-function …
heterogeneous conditions with a variable age of onset and a 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. Although a recurrent heterozygous mutation (p. Arg1715His) in CACNA1G is
known to cause adult-onset spinocerebellar ataxia 42 (SCA42* 616795), gain-of-function …
