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
Novel mutations inCLN8in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean
β Scribed by Natalia Cannelli; Denise Cassandrini; Enrico Bertini; Pasquale Striano; Lucia Fusco; Roberto Gaggero; Nicola Specchio; Roberta Biancheri; Federico Vigevano; Claudio Bruno; Alessandro Simonati; Federico Zara; Filippo M. Santorelli
- Publisher
- Springer
- Year
- 2006
- Tongue
- English
- Weight
- 389 KB
- Volume
- 7
- Category
- Article
- ISSN
- 1364-6745
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The neuronal ceroid lipofuscinoses (NCL) are a group of genetically heterogeneous neurodegenerative disorders. The recent identification of the MFSD8/CLN7 gene in a variant-late infantile form of NCL (v-LINCL) in affected children from Turkey prompted us to examine the relative frequency of variants
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