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
Variant Late Infantile Neuronal Ceroid Lipofuscinosis Because of CLN1 Mutations
β Scribed by Alessandro Simonati; Alessandra Tessa; Bernardo Dalla Bernardina; Roberta Biancheri; Edvige Veneselli; Giulia Tozzi; Maria Bonsignore; Salvatore Grosso; Fiorella Piemonte; Filippo M. Santorelli
- Book ID
- 116825472
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 264 KB
- Volume
- 40
- Category
- Article
- ISSN
- 0887-8994
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The first prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL Finnish ; CLN5) is reported. The disease belongs to the group of progressive encephalopathies in children with psycho-motor deterioration, visual failure and premature death. Neurons and several extraneural
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