ArticleJournal of human genetics2026
Childhood-onset ataxia with dystonia: expanding the spectrum of VWA3B-related disorders.
Article in Journal of human genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Hereditary cerebellar ataxias are a group of rare genetic disorders that affect coordination, balance, and speech. Childhood-onset forms can be especially severe and difficult to diagnose. The VWA3B gene, though not fully understood, plays a role in brain development and has been linked to autosomal recessive spinocerebellar ataxia type 22 (SCAR22), an adult-onset cerebellar ataxia with variable features. A single family with 3 affected adults has been described to date. We report a 1 year 9 months old boy with early-onset neuroregression and ataxia. Prominent dystonia involving the limbs and eyelids (blepharospasm) was also a novel feature observed in him. Exome sequencing revealed compound heterozygous variants in VWA3B. Unlike the previous report describing a missense variant, our patient had nonsense and frameshift variants. This case highlights the expanding clinical and genotypic spectrum of VWA3B-related ataxia.
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