Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis
β Scribed by Maria Bonsignore; Alessandra Tessa; Gabriella Di Rosa; Fiorella Piemonte; Carlo Dionisi-Vici; Alessandro Simonati; Filippo Calamoneri; Gaetano Tortorella; Filippo M. Santorelli
- Book ID
- 113590114
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 173 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1090-3798
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The neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurodegenerative diseases of childhood. CLN6, the gene mutated in variant late infantile NCL (vLINCL), was recently cloned. We report the identification of eight further mutations in CLN6 making a total of 18 reported muta
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
The late-infantile-onset forms of neuronal ceroid lipofuscinosis (LINCL) are the most genetically heterogeneous group among the autosomal recessive neuronal ceroid lipofuscinoses (NCLs), with causative mutations found in CLN1, CLN2, CLN5, CLN6, CLN7 (MFSD8), and CLN8 genes. Homozygous mutations in C