Linked Life Data

21549341

Source:http://linkedlifedata.com/resource/pubmed/id/21549341

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PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2011-5-13
pubmed:abstractText
The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for most of the childhood-onset forms of neuronal ceroid lipofuscinosis (NCL) have been identified. Diagnosis of Kufs disease is difficult because the characteristic lipopigment is largely confined to neurons and can require a brain biopsy or autopsy for final diagnosis. We mapped four families with Kufs disease for whom there was good evidence of autosomal-recessive inheritance and found two peaks on chromosome 15. Three of the families were affected by Kufs type A disease and presented with progressive myoclonus epilepsy, and one was affected by type B (presenting with dementia and motor system dysfunction). Sequencing of a candidate gene in one peak shared by all four families identified no mutations, but sequencing of CLN6, found in the second peak and shared by only the three families affected by Kufs type A disease, revealed pathogenic mutations in all three families. We subsequently sequenced CLN6 in eight other families, three of which were affected by recessive Kufs type A disease. Mutations in both CLN6 alleles were found in the three type A cases and in one family affected by unclassified Kufs disease. Mutations in CLN6 are the major cause of recessive Kufs type A disease. The phenotypic differences between variant late-infantile NCL, previously found to be caused by CLN6, and Kufs type A disease are striking; there is a much later age at onset and lack of visual involvement in the latter. Sequencing of CLN6 will provide a simple diagnostic strategy in this disorder, in which definitive identification usually requires invasive biopsy.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1537-6605
pubmed:author
pubmed:copyrightInfo
Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
pubmed:issnType
Electronic
pubmed:day
13
pubmed:volume
88
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
566-73
pubmed:dateRevised
2011-11-14
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
pubmed:affiliation
Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.
pubmed:publicationType
Journal Article