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Article

New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype.

Journal of neurology, neurosurgery, and psychiatry - 1 Sept 2010

Delnooz C C S, Lefeber D J, Langemeijer S M C, Hoffjan S, Dekomien G, Zwarts M J, Van Engelen B G M, Wevers R A, Schelhaas H J, van de Warrenburg B P C

Abstract excerpt

Sandhoff disease is a lipid-storage disorder caused by a defect in ganglioside metabolism. It is caused by a lack of functional N-acetyl-beta-d-glucosaminidase A and B due to mutations in the HEXB gene. Typical, early-onset Sandhoff disease presents before 9 months of age with progressive psychomotor retardation and early death. A late-onset form of Sandhoff disease is rare, and its symptoms are heterogeneous. As...

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Source

Identifiers

PMID: 20798201
DOI: 10.1136/jnnp.2009.177089

Genes

HEXB

Provenance

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Related research

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