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Article

Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations.

Orphanet journal of rare diseases - 3 Aug 2018

Tavasoli Ali Reza, Parvaneh Nima, Ashrafi Mahmoud Reza, Rezaei Zahra, Zschocke Johannes, Rostami Parastoo

Abstract excerpt

BACKGROUND: Infantile Sandhoff disease (ISD) is a GM2 gangliosidosis that is classified as a lysosomal storage disorder. The most common symptoms of affected individuals at presentation are neurologic involvement. Here we report clinical course and demographic features in a case series of infantile Sandhoff disease. Enzymatically and some genetically proven cases of ISD were extracted from the Iranian...

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Identifiers

PMID: 30075786
DOI: 10.1186/s13023-018-0876-5
PMCID: PMC6091055

Genes

HEXB

Provenance

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