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Article

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.

International journal of molecular sciences - 16 Nov 2023

Martínez-Rubio Dolores, Hinarejos Isabel, Argente-Escrig Herminia, Marco-Marín Clara, Lozano María Ana, Gorría-Redondo Nerea, Lupo Vincenzo, Martí-Carrera Itxaso, Miranda Concepción, Vázquez-López María, García-Pérez Asunción, Marco-Hernández Ana Victoria, Tomás-Vila Miguel, Aguilera-Albesa Sergio, Espinós Carmen

Abstract excerpt

Cerebellar atrophy (CA) is a frequent neuroimaging finding in paediatric neurology, usually associated with cerebellar ataxia. The list of genes involved in hereditary forms of CA is continuously growing and reveals its genetic complexity. We investigated ten cases with early-onset cerebellar involvement with and without ataxia by exome sequencing or by a targeted panel with 363 genes involved in ataxia or...

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Identifiers

PMID: 38003592
DOI: 10.3390/ijms242216400
PMCID: PMC10671053

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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