Parkinsonism in PGK1 deficiency implicates the glycolytic pathway in nigrostriatal dysfunction

Phosphoglycerate kinase-1 deficiency is caused by X-linked recessive mutations in PGK-1 and associated with haemolytic anaemia, rhabdomyolysis, myopathy and nervous system involvement. Some cases have been rarely associated with juvenile Parkinsonism however the causal relationship between PGK1 defi...

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Vydáno v:	Parkinsonism & related disorders Ročník 64; s. 319 - 323
Hlavní autoři:	Morales-Briceño, Hugo, Ha, Ainhi D., London, Kevin, Farlow, David, Chang, Florence C.F., Fung, Victor S.C.
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	England Elsevier Ltd 01.07.2019
Témata:	Adult Age of Onset Anemia, Hemolytic - etiology Dopamine Plasma Membrane Transport Proteins - metabolism Genetic Diseases, X-Linked - complications Genetic Diseases, X-Linked - diagnostic imaging Genetic Diseases, X-Linked - metabolism Glycolysis Humans Juvenile parkinsonism Male Metabolism, Inborn Errors - complications Metabolism, Inborn Errors - diagnostic imaging Metabolism, Inborn Errors - metabolism Organotechnetium Compounds Parkinsonian Disorders - diagnostic imaging Parkinsonian Disorders - etiology Parkinsonian Disorders - metabolism Parkinsonian Disorders - physiopathology Pathophysiology Pedigree Phosphoglycerate Kinase - deficiency Phosphoglycerate Kinase - metabolism Putamen - metabolism Radiopharmaceuticals Substantia Nigra - diagnostic imaging Substantia Nigra - metabolism Tomography, Emission-Computed, Single-Photon Tropanes Glycolysis Pathophysiology Phosphoglycerate kinase deficiency Juvenile parkinsonism
ISSN:	1353-8020, 1873-5126, 1873-5126
On-line přístup:	Získat plný text
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