A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of batten (Spielmeyer-Vogt-Sjoegren, CLN3) disease: Exclusion of linkage to the CLN3 region of chromosome 16
- Univ. College London Medical School (United Kingdom)
- Univ. of Helsinki (Finland)
- National Public Health Institute, Helsinki (Finland)
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigment in neurons and other cell types. The biochemical basis of these diseases is unknown. Three main childhood forms are recognized: infantile (Santavuori-Haltia disease, CLN1), late infantile (Jansky-Bielschowsky disease, CLN2), and juvenile (Spielmeyer-Vogt-Sjoegren, Batten disease, CLN3). The CLN1 gene has been mapped to chromosome 1p and CLN3 to chromosome 16p by linkage analysis. The gene locus causing the classical late infantile form (CLN2) has not yet been mapped but has been excluded from both CLN1 and CLN3 loci. About 10% of NCL cases have a typical clinical features with most of these resembling the late infantile form. 8 refs., 1 fig., 1 tab.
- OSTI ID:
- 6822515
- Journal Information:
- Genomics; (United States), Journal Name: Genomics; (United States) Vol. 20:2; ISSN 0888-7543; ISSN GNMCEP
- Country of Publication:
- United States
- Language:
- English
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