Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism?

Early-onset Parkinson’s disease: a new genetic link Mutations in the gene encoding phosphoglycerate kinase 1 (PGK-1) may confer susceptibility to early-onset Parkinson’s disease (PD). PGK-1 is a crucial protein for the breakdown of sugar in the body and mutations that cause PGK-1 deficiency lead to...

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Autores principales:	Satoshi Sakaue, Takashi Kasai, Ikuko Mizuta, Masaya Suematsu, Shinya Osone, Yumiko Azuma, Toshihiko Imamura, Takahiko Tokuda, Hitoshi Kanno, Omar M. A. El-Agnaf, Masafumi Morimoto, Masanori Nakagawa, Hajime Hosoi, Toshiki Mizuno
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/15d3dd6eba764c9cb76b11aebe524a0b
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spelling	oai:doaj.org-article:15d3dd6eba764c9cb76b11aebe524a0b2021-12-02T11:42:13ZEarly-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism?10.1038/s41531-017-0014-42373-8057https://doaj.org/article/15d3dd6eba764c9cb76b11aebe524a0b2017-03-01T00:00:00Zhttps://doi.org/10.1038/s41531-017-0014-4https://doaj.org/toc/2373-8057Early-onset Parkinson’s disease: a new genetic link Mutations in the gene encoding phosphoglycerate kinase 1 (PGK-1) may confer susceptibility to early-onset Parkinson’s disease (PD). PGK-1 is a crucial protein for the breakdown of sugar in the body and mutations that cause PGK-1 deficiency lead to an X-linked metabolic disorder characterised by the breakdown of red blood cells, muscle weakness and various central nervous system abnormalities. Takashi Kasai at Kyoto Prefectural University of Medicine, Japan, and colleagues describe early-onset PD symptoms in a 9 year old boy with PGK-1 deficiency and his mother at 36 years of age. This is the first report of parkinsonism developing in an otherwise asymptomatic carrier of a PGK-1 mutation. The location of the PGK-1 gene on the X chromosome is within a confirmed susceptibility region for PD known as PARK12, suggesting that PGK-1 may directly contribute to the disease.Satoshi SakaueTakashi KasaiIkuko MizutaMasaya SuematsuShinya OsoneYumiko AzumaToshihiko ImamuraTakahiko TokudaHitoshi KannoOmar M. A. El-AgnafMasafumi MorimotoMasanori NakagawaHajime HosoiToshiki MizunoNature PortfolioarticleNeurology. Diseases of the nervous systemRC346-429ENnpj Parkinson's Disease, Vol 3, Iss 1, Pp 1-3 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Neurology. Diseases of the nervous system RC346-429
spellingShingle	Neurology. Diseases of the nervous system RC346-429 Satoshi Sakaue Takashi Kasai Ikuko Mizuta Masaya Suematsu Shinya Osone Yumiko Azuma Toshihiko Imamura Takahiko Tokuda Hitoshi Kanno Omar M. A. El-Agnaf Masafumi Morimoto Masanori Nakagawa Hajime Hosoi Toshiki Mizuno Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism?
description	Early-onset Parkinson’s disease: a new genetic link Mutations in the gene encoding phosphoglycerate kinase 1 (PGK-1) may confer susceptibility to early-onset Parkinson’s disease (PD). PGK-1 is a crucial protein for the breakdown of sugar in the body and mutations that cause PGK-1 deficiency lead to an X-linked metabolic disorder characterised by the breakdown of red blood cells, muscle weakness and various central nervous system abnormalities. Takashi Kasai at Kyoto Prefectural University of Medicine, Japan, and colleagues describe early-onset PD symptoms in a 9 year old boy with PGK-1 deficiency and his mother at 36 years of age. This is the first report of parkinsonism developing in an otherwise asymptomatic carrier of a PGK-1 mutation. The location of the PGK-1 gene on the X chromosome is within a confirmed susceptibility region for PD known as PARK12, suggesting that PGK-1 may directly contribute to the disease.
format	article
author	Satoshi Sakaue Takashi Kasai Ikuko Mizuta Masaya Suematsu Shinya Osone Yumiko Azuma Toshihiko Imamura Takahiko Tokuda Hitoshi Kanno Omar M. A. El-Agnaf Masafumi Morimoto Masanori Nakagawa Hajime Hosoi Toshiki Mizuno
author_facet	Satoshi Sakaue Takashi Kasai Ikuko Mizuta Masaya Suematsu Shinya Osone Yumiko Azuma Toshihiko Imamura Takahiko Tokuda Hitoshi Kanno Omar M. A. El-Agnaf Masafumi Morimoto Masanori Nakagawa Hajime Hosoi Toshiki Mizuno
author_sort	Satoshi Sakaue
title	Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism?
title_short	Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism?
title_full	Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism?
title_fullStr	Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism?
title_full_unstemmed	Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism?
title_sort	early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do pgk-1 mutations contribute to vulnerability to parkinsonism?
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/15d3dd6eba764c9cb76b11aebe524a0b
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Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism?

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