Phenotypic heterogeneity in consanguineous patients with a common CLN8 mutation.

doi:10.1016/j.pediatrneurol.2012.05.016

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Article

Phenotypic heterogeneity in consanguineous patients with a common CLN8 mutation.

Pediatric neurology - 1 Oct 2012

Mahajnah Muhammad, Zelnik Nathanel

Abstract excerpt

The most heterogeneous subtype of neuronal ceroid lipofuscinosis comprises the late infantile variant, which, in addition to the classic CLN2, was reported in children with CLN5, CLN6, CLN7/MFSD8, and CLN8 genes. Patients with CLN8 mutations usually present as the late-infantile-onset neuronal ceroid lipofuscinosis phenotype and are mostly Turkish and Italian, but three patients from Israel, Pakistan, and Germany...

Topics

Adolescent
Age of Onset
Arabs
Child
Cognition Disorders
Consanguinity
Disease Progression
Electroretinography
Epilepsy, Tonic-Clonic
Female
Gait Ataxia
Genetic Heterogeneity
Humans
Israel
Male
Membrane Proteins
Mutation, Missense
Pedigree

Source

Open in PubMed

Identifiers

PMID: 22964447
DOI: 10.1016/j.pediatrneurol.2012.05.016

Genes

CLN8
CLN5
CLN6
MFSD8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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