A Japanese family with mutation in the proteinase inhibitor 12 L47P gene: A case report

J Neurol Sci. 2018 Jan 15:384:126-128. doi: 10.1016/j.jns.2017.11.029. Epub 2017 Nov 22.

Authors

Haruka Amano-Takeshige¹, Genko Oyama², Kazuaki Kanai¹, Toji Miyagawa³, Jun Mitsui³, Yoshikazu Ugawa⁴, Shoji Tsuji³, Nobutaka Hattori¹

Affiliations

¹ Department of Neurology, Juntendo University Faculty of Medicine, Tokyo, Japan.
² Department of Neurology, Juntendo University Faculty of Medicine, Tokyo, Japan. Electronic address: [email protected].
³ Department of Neurology, Tokyo University, Tokyo, Japan.
⁴ Department of Neurology, Fukushima University, Fukushima, Japan.

PMID: 29249370
DOI: 10.1016/j.jns.2017.11.029

No abstract available

Keywords: Familial encephalopathy with neuroserpin inclusion bodies; L47P mutation; Neuroserpin; Progressive myoclonus epilepsy.

Publication types

Case Reports
Letter

MeSH terms

Adult
Asian People / genetics*
Epilepsies, Myoclonic / genetics*
Female
Heredodegenerative Disorders, Nervous System / genetics*
Humans
Japan
Male
Mutation*
Neuropeptides / genetics*
Neuroserpin
Pedigree
Serpins / genetics*

Substances

Neuropeptides
Serpins

Supplementary concepts

Familial encephalopathy with neuroserpin inclusion bodies