Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism?
<p dir="ltr">Phosphoglycerate kinase 1 (PGK-1) is a glycolytic enzyme encoded by PGK-1, which maps to the X chromosome. PGK-1 deficiency causes X-linked recessive hereditary chronic hemolytic anemia, myopathy, and neurological disorders due to insufficient ATP regeneration. Early-ons...
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| مؤلفون آخرون: | , , , , , , , , , , , , |
| منشور في: |
2017
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| _version_ | 1864513557013463040 |
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| author | Satoshi Sakaue (19725322) |
| author2 | Takashi Kasai (718121) Ikuko Mizuta (6578597) Masaya Suematsu (12006506) Shinya Osone (769429) Yumiko Azuma (318823) Toshihiko Imamura (769424) Takahiko Tokuda (105837) Hitoshi Kanno (5439200) Omar M. A. El-Agnaf (8809331) Masafumi Morimoto (4633492) Masanori Nakagawa (105840) Hajime Hosoi (259258) Toshiki Mizuno (105838) |
| author2_role | author author author author author author author author author author author author author |
| author_facet | Satoshi Sakaue (19725322) Takashi Kasai (718121) Ikuko Mizuta (6578597) Masaya Suematsu (12006506) Shinya Osone (769429) Yumiko Azuma (318823) Toshihiko Imamura (769424) Takahiko Tokuda (105837) Hitoshi Kanno (5439200) Omar M. A. El-Agnaf (8809331) Masafumi Morimoto (4633492) Masanori Nakagawa (105840) Hajime Hosoi (259258) Toshiki Mizuno (105838) |
| author_role | author |
| dc.creator.none.fl_str_mv | Satoshi Sakaue (19725322) Takashi Kasai (718121) Ikuko Mizuta (6578597) Masaya Suematsu (12006506) Shinya Osone (769429) Yumiko Azuma (318823) Toshihiko Imamura (769424) Takahiko Tokuda (105837) Hitoshi Kanno (5439200) Omar M. A. El-Agnaf (8809331) Masafumi Morimoto (4633492) Masanori Nakagawa (105840) Hajime Hosoi (259258) Toshiki Mizuno (105838) |
| dc.date.none.fl_str_mv | 2017-03-31T15:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1038/s41531-017-0014-4 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Early-onset_parkinsonism_in_a_pedigree_with_phosphoglycerate_kinase_deficiency_and_a_heterozygous_carrier_do_PGK-1_mutations_contribute_to_vulnerability_to_parkinsonism_/27087970 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Genetics Biomedical and clinical sciences Neurosciences Glycolytic enzyme X-linked recessive hereditary chronic hemolytic anemia Myopathy Neurological disorders Early-onset parkinsonism Levodopa treatment Parkinson's disease (PD) |
| dc.title.none.fl_str_mv | Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism? |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <p dir="ltr">Phosphoglycerate kinase 1 (PGK-1) is a glycolytic enzyme encoded by PGK-1, which maps to the X chromosome. PGK-1 deficiency causes X-linked recessive hereditary chronic hemolytic anemia, myopathy, and neurological disorders due to insufficient ATP regeneration. Early-onset parkinsonism has occasionally been reported as a neurological complication of this condition. However, heterozygous carriers of PGK-1 deficiency were thought to be neurologically asymptomatic. Here, we report a boy with PGK-1 deficiency and his mother, a carrier of a heterozygous mutation in PGK-1, both of whom presented with early-onset parkinsonism. The boy developed parkinsonism at 9 years of age. His parkinsonism partially responded to levodopa treatment. 123l-metaiodobenzylguanidine (MIBG) uptake was normal. His mother, who exhibited normal PGK-1 activity in erythrocytes, developed parkinsonism at 36 years of age. Her symptoms were undistinguishable from those of Parkinson’s disease (PD), despite her normal uptake of MIBG. Neither a point mutation in nor multiplication of SNCA was found. Additionally, hotspots of LRRK2 and GBA were not mutated. To our knowledge, this report provides the first description of parkinsonism in a carrier of PGK-1 deficiency. Interestingly, PGK-1 is located within the confirmed susceptibility locus for PD known as PARK12. These observations suggest that PGK-1 mutations confer susceptibility to PD.</p><h2>Other Information</h2><p dir="ltr">Published in: npj Parkinson's Disease<br>License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1038/s41531-017-0014-4" target="_blank">https://dx.doi.org/10.1038/s41531-017-0014-4</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_23657f2a07b83feb846e06a5a398e1fb |
| identifier_str_mv | 10.1038/s41531-017-0014-4 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/27087970 |
| publishDate | 2017 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism?Satoshi Sakaue (19725322)Takashi Kasai (718121)Ikuko Mizuta (6578597)Masaya Suematsu (12006506)Shinya Osone (769429)Yumiko Azuma (318823)Toshihiko Imamura (769424)Takahiko Tokuda (105837)Hitoshi Kanno (5439200)Omar M. A. El-Agnaf (8809331)Masafumi Morimoto (4633492)Masanori Nakagawa (105840)Hajime Hosoi (259258)Toshiki Mizuno (105838)Biological sciencesGeneticsBiomedical and clinical sciencesNeurosciencesGlycolytic enzymeX-linked recessive hereditary chronic hemolytic anemiaMyopathyNeurological disordersEarly-onset parkinsonismLevodopa treatmentParkinson's disease (PD)<p dir="ltr">Phosphoglycerate kinase 1 (PGK-1) is a glycolytic enzyme encoded by PGK-1, which maps to the X chromosome. PGK-1 deficiency causes X-linked recessive hereditary chronic hemolytic anemia, myopathy, and neurological disorders due to insufficient ATP regeneration. Early-onset parkinsonism has occasionally been reported as a neurological complication of this condition. However, heterozygous carriers of PGK-1 deficiency were thought to be neurologically asymptomatic. Here, we report a boy with PGK-1 deficiency and his mother, a carrier of a heterozygous mutation in PGK-1, both of whom presented with early-onset parkinsonism. The boy developed parkinsonism at 9 years of age. His parkinsonism partially responded to levodopa treatment. 123l-metaiodobenzylguanidine (MIBG) uptake was normal. His mother, who exhibited normal PGK-1 activity in erythrocytes, developed parkinsonism at 36 years of age. Her symptoms were undistinguishable from those of Parkinson’s disease (PD), despite her normal uptake of MIBG. Neither a point mutation in nor multiplication of SNCA was found. Additionally, hotspots of LRRK2 and GBA were not mutated. To our knowledge, this report provides the first description of parkinsonism in a carrier of PGK-1 deficiency. Interestingly, PGK-1 is located within the confirmed susceptibility locus for PD known as PARK12. These observations suggest that PGK-1 mutations confer susceptibility to PD.</p><h2>Other Information</h2><p dir="ltr">Published in: npj Parkinson's Disease<br>License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1038/s41531-017-0014-4" target="_blank">https://dx.doi.org/10.1038/s41531-017-0014-4</a></p>2017-03-31T15:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1038/s41531-017-0014-4https://figshare.com/articles/journal_contribution/Early-onset_parkinsonism_in_a_pedigree_with_phosphoglycerate_kinase_deficiency_and_a_heterozygous_carrier_do_PGK-1_mutations_contribute_to_vulnerability_to_parkinsonism_/27087970CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/270879702017-03-31T15:00:00Z |
| spellingShingle | Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism? Satoshi Sakaue (19725322) Biological sciences Genetics Biomedical and clinical sciences Neurosciences Glycolytic enzyme X-linked recessive hereditary chronic hemolytic anemia Myopathy Neurological disorders Early-onset parkinsonism Levodopa treatment Parkinson's disease (PD) |
| status_str | publishedVersion |
| 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_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_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_sort | Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism? |
| topic | Biological sciences Genetics Biomedical and clinical sciences Neurosciences Glycolytic enzyme X-linked recessive hereditary chronic hemolytic anemia Myopathy Neurological disorders Early-onset parkinsonism Levodopa treatment Parkinson's disease (PD) |