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Article

A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.

Neurogenetics - 1 Feb 2009

Stogmann E, El Tawil S, Wagenstaller J, Gaber A, Edris S, Abdelhady A, Assem-Hilger E, Leutmezer F, Bonelli S, Baumgartner C, Zimprich F, Strom T M, Zimprich A

Abstract excerpt

Neuronal ceroid lipofuscinoses (NCL) are lysosomal storage disorders and constitute the most common group of progressive neurodegenerative diseases in childhood. Most NCLs are inherited in a recessive manner and are clinically characterised by a variable age at onset, epileptic seizures, psychomotor decline, visual impairment and premature death. To date, eight causative genes have been identified to underlie...

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Source

Identifiers

PMID: 18850119
DOI: 10.1007/s10048-008-0153-1

Genes

NCL
MFSD8

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.PMID 18850119Read ↗

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