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Spinocerebellar ataxia, autosomal recessive 29

Synonyms
BARAKAT-VAN HAM-KAYA SYNDROME; NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATAXIA

Summary

Autosomal recessive spinocerebellar ataxia-29 (SCAR29) is a progressive neurodegenerative disorder characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development. Other features include dysarthria, nystagmus, peripheral spasticity, nystagmus, and visual impairment. Brain imaging typically shows atrophy of the cerebellar vermis, but other abnormalities may also be present. Some patients are wheelchair-bound and/or nonverbal (summary by Sanderson et al., 2021) In a review of the pathogenesis of disorders with prominent dystonia as a feature, Monfrini et al. (2021) classified SCAR29 as belonging to a group of neurologic disorders termed 'HOPS-associated neurologic disorders' (HOPSANDs), which are caused by mutations in genes encoding various components of the autophagic/endolysosomal system, including VPS41. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: HVPS41, HVSP41, SCAR29, hVps41p, VPS41
    Summary: VPS41 subunit of HOPS complex

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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