Article
[Clinical and genetic description of neuronal ceroid lipofuscinosis 6 type in the yakut family].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2021
Golikova P I, Petukhova D A, Sukhomyasova A L, Nikolaeva T Ya, Gurinova E E, Ivanova R N, Maksimova N R
Abstract excerpt
Neuronal ceroid lipofuscinosis type 6 (NCL 6) is a rare progressive neurodegenerative disease that belongs to the group of lysosomal storage diseases. A clinical and genetic description of NCL 6 in a Yakut family was carried out. The proband and her sibling showed characteristic clinical signs, including myoclonic epilepsy, ataxia, psychomotor regression, dementia, and visual impairment. The onset of the disease...
Topics
- Child, Preschool
- Female
- Homozygote
- Humans
- Membrane Proteins
- Mutation
- Neuronal Ceroid-Lipofuscinoses