CLN6 Mutation in a Patient with Progressive Myoclonus Epilepsy / 대한소아신경학회지
Journal of the Korean Child Neurology Society
; (4): 123-127, 2018.
Article
em En
| WPRIM
| ID: wpr-728852
Biblioteca responsável:
WPRO
ABSTRACT
Neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative disorders, which are caused by the accumulation of lipopigment in lysosomes. Variant forms of late infantile NCLs (vLINCLs) characterized by a later onset of seizures and visual impairment (3–8 years) than in the classic form (2–4 years) are caused by mutations of the gene encoding ceroid lipofuscinosis neuronal protein 6 (CLN6). In a girl with progressive myoclonus epilepsy, we found heterozygous variants of CLN6 (NM_017882.2; NP_060352.1) c.296A>G (p.Lys99Arg) and c.307C>T (p.Arg103Trp). They were identified with whole-exome sequencing and verified with Sanger sequencing. At 7 years and 9 months, our patient had developed multiple types of seizures, prominent myoclonus with photosensitivity, regression in motor and language skills, pyramidal and extrapyramidal signs, and brain atrophy in brain images, all of which were progressive and were compatible with vLINCLs. However, this first Korean report shows no visual impairment, which resembles the previously reported Japanese case.
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Base de dados:
WPRIM
Assunto principal:
Atrofia
/
Convulsões
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Transtornos da Visão
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Encéfalo
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Ceroide
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Doenças Neurodegenerativas
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Epilepsias Mioclônicas Progressivas
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Povo Asiático
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Lisossomos
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Mioclonia
Limite:
Child
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Female
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Humans
Idioma:
En
Revista:
Journal of the Korean Child Neurology Society
Ano de publicação:
2018
Tipo de documento:
Article