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 mutations in this gene have recently been identified by whole exome sequencing (WES) in four children with cerebellar atrophy and ataxia, psychomotor delay, and other variable features

Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations / Barresi S, Dentici ML, Manzoni F, Bellacchio E, Agolini E, Pizzi S, Ciolfi A, Tarnopolsky M, Brady L, Garone G, Novelli A, Mei D, Guerrini R,Capuano A, Pantaleoni C, Tartaglia M. - In: PEDIATRIC NEUROLOGY. - ISSN 1873-5150. - ELETTRONICO. - 104:(2020), pp. 40-45. [10.1016/j.pediatrneurol.2019.09.005]

Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations

Mei D;Guerrini R;
2020

Abstract

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 mutations in this gene have recently been identified by whole exome sequencing (WES) in four children with cerebellar atrophy and ataxia, psychomotor delay, and other variable features
2020
104
40
45
Barresi S, Dentici ML, Manzoni F, Bellacchio E, Agolini E, Pizzi S, Ciolfi A, Tarnopolsky M, Brady L, Garone G, Novelli A, Mei D, Guerrini R,Capuano A, Pantaleoni C, Tartaglia M
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1192655
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