The expression of late infantile neuronal ceroid lipofuscinosis (CLN2) gene product in human brains
β Scribed by Akira Oka; Yukiko Kurachi; Masashi Mizuguchi; Masaharu Hayashi; Sachio Takashima
- Book ID
- 117477169
- Publisher
- Elsevier Science
- Year
- 1998
- Tongue
- English
- Weight
- 234 KB
- Volume
- 257
- Category
- Article
- ISSN
- 0304-3940
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The neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of autosomal recessive neurodegenerative diseases comprising Batten and other related diseases plus numerous variants. They are characterized by progressive neuronal cell death. The CLN6 gene was recently identified, mutations in wh
## Abstract Mutations in __CLN6__ cause variant lateβonset neuronal ceroid lipofuscinosis (vLINCL), a childhood neurodegenerative disorder resulting from aberrant neuronal cell loss and pathological accumulation of lysosomal autofluorescent storage material in the central nervous system. The direct