Format

Send to

Choose Destination
Eur J Paediatr Neurol. 2013 Nov;17(6):657-60. doi: 10.1016/j.ejpn.2013.04.011. Epub 2013 Jun 2.

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

Author information

1
Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.

Abstract

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 to be typical for CLN6 disease, late infantile variant. The observed pathology of one proband resembled condensed fingerprints, previously described in late infantile CLN7 and CLN8 diseases, and pathology from the second proband was thought to be absent even after repeated skin biopsy, but observed after review. This mutation is the most common NCL mutation in families originating from Pakistan and could be prioritised for testing. Finally, this report contains the first prenatal diagnosis for late infantile CLN6 disease, initially made on the basis of EM and now confirmed by mutation analysis.

KEYWORDS:

Batten; CLN6; NCL; Neuronal ceroid lipofuscinosis; Pathology; Prenatal

PMID:
23735787
PMCID:
PMC3847240
DOI:
10.1016/j.ejpn.2013.04.011
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Elsevier Science Icon for PubMed Central
Loading ...
Support Center