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Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1 , CLN2 , CLN3 , and CLN5
Author(s) -
Mole Sara E.,
Mitchison Hannah M.,
Munroe Patricia B.
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1999)14:3<199::aid-humu3>3.0.co;2-a
Subject(s) - batten disease , biology , neuronal ceroid lipofuscinosis , phenotype , gene , transmembrane protein , encode , lipofuscin , genetics , mutation , biochemistry , receptor
The neuronal ceroid lipofuscinoses (NCLs), also referred to as Batten disease, are a group of neurodegenerative disorders characterised by the accumulation of an autofluorescent lipopigment in many cell types. Different NCL types are distinguished according to age of onset, clinical phenotype, ultrastructural characterisation of the storage material, and chromosomal location of the disease gene. At least eight genes underlie the NCLs, of which four have been isolated and mutations characterised: CLN1, CLN2, CLN3, CLN5. Two of these genes encode lysosomal enzymes, and two encode transmembrane proteins, at least one of which is likely to be in the lysosomal membrane. The basic defect in the NCLs appears to be associated with lysosomal function. Hum Mutat 14:199–215, 1999. © 1999 Wiley‐Liss, Inc.