Defective Phosphatidylethanolamine Biosynthesis Leads to a Broad Ataxia-spasticity Spectrum

Overview

Journal Brain

Publisher Oxford University Press

Specialty Neurology

Date 2021 Jan 17

PMID 33454747

Citations 7

Authors

Rauan Kaiyrzhanov

Saskia Wortmann

Taryn Reid

Mohammadreza Dehghani

Mohammad Yahya Vahidi Mehrjardi

Bader Alhaddad

Matias Wagner

Marcus Deschauer

Isabell Cordts

J Pedro Fernandez-Murray

Veronika Treffer

Zahra Metanat

Alan Pitman

Henry Houlden

Thomas Meitinger

Christopher Carroll

Christopher R McMaster

Reza Maroofian

Affiliations

Soon will be listed here.

Citing Articles

Skeletal Muscle Consequences of Phosphatidylethanolamine Synthesis Deficiency.

Grapentine S, Singh R, Bakovic M Function (Oxf). 2023; 4(4):zqad020.

PMID: 37342414 PMC: 10278983. DOI: 10.1093/function/zqad020.

PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing.

Cikes D, Elsayad K, Sezgin E, Koitai E, Torma F, Orthofer M Nat Metab. 2023; 5(3):495-515.

PMID: 36941451 DOI: 10.1038/s42255-023-00766-2.

Selenoprotein I (selenoi) as a critical enzyme in the central nervous system.

Nunes L, Pitts M, Hoffmann P Arch Biochem Biophys. 2022; 729:109376.

PMID: 36007576 PMC: 11166481. DOI: 10.1016/j.abb.2022.109376.

Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of .

Leonardis L, Skrjanec Pusenjak M, Maver A, Jaklic H, Ozura Brecko A, Koritnik B Neurol Genet. 2022; 8(2):e658.

PMID: 35243002 PMC: 8889895. DOI: 10.1212/NXG.0000000000000658.

Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.

Klockner C, Fernandez-Murray J, Tavasoli M, Sticht H, Stoltenburg-Didinger G, Scholle L Brain. 2022; 145(6):1916-1923.

PMID: 35202461 PMC: 9630884. DOI: 10.1093/brain/awac074.

References

Pavlovic Z, Zhu L, Pereira L, Singh R, Cornell R, Bakovic M . Isoform-specific and protein kinase C-mediated regulation of CTP:phosphoethanolamine cytidylyltransferase phosphorylation. J Biol Chem. 2014; 289(13):9053-64. PMC: 3979399. DOI: 10.1074/jbc.M113.544932. View

Blumkin L, Leshinsky-Silver E, Michelson M, Zerem A, Kivity S, Lev D . Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A. Eur J Paediatr Neurol. 2015; 19(3):292-7. DOI: 10.1016/j.ejpn.2014.12.018. View

Horibata Y, Hirabayashi Y . Identification and characterization of human ethanolaminephosphotransferase1. J Lipid Res. 2006; 48(3):503-8. DOI: 10.1194/jlr.C600019-JLR200. View

Krenn M, Milenkovic I, Eckstein G, Zimprich F, Meitinger T, Foki T . Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing. Neurol Genet. 2019; 5(4):e346. PMC: 6659132. DOI: 10.1212/NXG.0000000000000346. View

Makrythanasis P, Maroofian R, Stray-Pedersen A, Musaev D, Zaki M, Mahmoud I . Biallelic variants in KIF14 cause intellectual disability with microcephaly. Eur J Hum Genet. 2018; 26(3):330-339. PMC: 5839044. DOI: 10.1038/s41431-017-0088-9. View

Vaz F, McDermott J, Alders M, Wortmann S, Kolker S, Pras-Raves M . Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia. Brain. 2019; 142(11):3382-3397. PMC: 6821184. DOI: 10.1093/brain/awz291. View

Ahmed M, Al-Khayat A, Al-Murshedi F, Al-Futaisi A, Chioza B, Fernandez-Murray J . A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. Brain. 2017; 140(3):547-554. PMC: 5382949. DOI: 10.1093/brain/aww318. View

Rickman O, Baple E, Crosby A . Lipid metabolic pathways converge in motor neuron degenerative diseases. Brain. 2019; 143(4):1073-1087. PMC: 7174042. DOI: 10.1093/brain/awz382. View

Hills L, Masri A, Konno K, Kakegawa W, Lam A, Lim-Melia E . Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. Neurology. 2013; 81(16):1378-86. PMC: 3806907. DOI: 10.1212/WNL.0b013e3182a841a3. View

10.

Horibata Y, Elpeleg O, Eran A, Hirabayashi Y, Savitzki D, Tal G . EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humans. J Lipid Res. 2018; 59(6):1015-1026. PMC: 5983406. DOI: 10.1194/jlr.P081620. View

11.

Wagner M, Berutti R, Lorenz-Depiereux B, Graf E, Eckstein G, Mayr J . Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease. J Inherit Metab Dis. 2019; 42(5):909-917. DOI: 10.1002/jimd.12109. View

12.

Velez-Santamaria V, Verdura E, Macmurdo C, Planas-Serra L, Schluter A, Casas J . Expanding the clinical and genetic spectrum of PCYT2-related disorders. Brain. 2020; 143(9):e76. DOI: 10.1093/brain/awaa229. View

13.

Synofzik M, Schule R . Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways. Mov Disord. 2017; 32(3):332-345. PMC: 6287914. DOI: 10.1002/mds.26944. View