Freezing of gait – First motor manifestation in late infantile variant neuronal ceroid lipofuscinosis
✍ Scribed by Damásio, J.; Taipa, R.; Melo-Pires, M.; Guimarães, A.; Bhatia, K.P.; Santos, M.; Carrilho, I.
- Book ID
- 121494365
- Publisher
- Elsevier Science
- Year
- 2014
- Tongue
- English
- Weight
- 685 KB
- Volume
- 20
- Category
- Article
- ISSN
- 1353-8020
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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 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