CLN6 Mutation in a Patient with Progressive Myoclonus Epilepsy / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 123-127, 2018.
Article
in English
| WPRIM
| ID: wpr-728852
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Atrophy
/
Seizures
/
Vision Disorders
/
Brain
/
Ceroid
/
Neurodegenerative Diseases
/
Myoclonic Epilepsies, Progressive
/
Asian People
/
Lysosomes
/
Myoclonus
Limits:
Child
/
Female
/
Humans
Language:
English
Journal:
Journal of the Korean Child Neurology Society
Year:
2018
Type:
Article
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