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Article

Adult-Onset Recessive Cerebellar Ataxia and Severe Multisystem Disease-Associated Genes: Hypomorphic Alleles and Clinical Interpretation Pitfalls.

Genes - 30 Jun 2026

Cipriano Lorenzo, Petillo Roberta, Priolo Manuela, D'Ambrosio Paola

Abstract excerpt

BACKGROUND: Adult-onset recessive cerebellar ataxias remain frequently unresolved after next-generation sequencing, partly because phenotype-driven filtering can deprioritize biallelic variants in genes historically associated with severe pediatric multisystem disease. This review examines how attenuated, hypomorphic, or residual-function genotypes may present as late-onset, cerebellar-predominant disease and...

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Identifiers

PMID: 42510798
DOI: 10.3390/genes17070758
PMCID: PMC13408754

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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