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Article

Beta-mannosidosis: a new cause of spinocerebellar ataxia.

Clinical neurology and neurosurgery - 1 Jan 2009

Labauge Pierre, Renard Dimitri, Castelnovo Giovanni, Sabourdy Frédérique, de Champfleur Nicolas, Levade Thierry

Abstract excerpt

Beta-mannosidosis (OMIM 248510) is an inborn lysosomal storage disorder caused by deficiency of beta-mannosidase activity. This enzyme is encoded by a single gene (MANBA), located on chromosome 4q22-25. This autosomal recessive disorder is characterized by a wide range of symptoms including menta...

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Source

Identifiers

PMID: 18980795
DOI: 10.1016/j.clineuro.2008.09.007

Genes

MANBA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18980795-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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