Article
Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review.
American journal of medical genetics. Part A - 1 Jan 2021
Casas-Alba Dídac, López-Sala Laura, Pérez-Ordóñez Marta, Mari-Vico Rosanna, Bolasell Mercè, Martínez-Monseny Antonio F, Muchart Jordi, Fernández-Fernández José M, Martorell Loreto, Serrano Mercedes
Abstract excerpt
Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND, MIM#604065) is an ultrarare autosomal dominant syndrome related to de novo CACNA1G gain-of-function pathogenic variants. All patients with SCA42ND show cerebellar atrophy and/or hypoplasia on neuroimaging and share common features such as dysmorphic features, global developmental delay, and axial hypotonia, all manifesting...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.