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Article

CLN6 disease caused by the same mutation originating in Pakistan has varying pathology.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2013

Guerreiro Rita, Bras Jose T, Vieira Mariana, Warrier Varun, Agrawal Shakti, Stewart Helen, Anderson Glenn, Mole Sara E

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCLs), the most common neurodegenerative diseases in children, are characterised by storage of autofluorescent material that has a characteristic ultrastructure. We report two families with variant late infantile NCL, both originating from Pakistan. Probands from both families were homozygous for the same mutation (c.316dupC) but had variable pathology to that currently thought...

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Identifiers

PMID: 23735787
DOI: 10.1016/j.ejpn.2013.04.011
PMCID: PMC3847240

Genes

CLN6
NCL
CLN8

Variants

Provenance

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