Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum
Brain
.
2021 Apr 12;144(3):e30.
doi: 10.1093/brain/awaa442.
Authors
Rauan Kaiyrzhanov
1
,
Saskia Wortmann
2
3
4
5
,
Taryn Reid
6
,
Mohammadreza Dehghani
7
,
Mohammad Yahya Vahidi Mehrjardi
8
,
Bader Alhaddad
2
,
Matias Wagner
2
,
Marcus Deschauer
9
,
Isabell Cordts
9
,
J Pedro Fernandez-Murray
6
,
Veronika Treffer
2
3
,
Zahra Metanat
10
,
Alan Pitman
11
,
Henry Houlden
1
,
Thomas Meitinger
2
3
,
Christopher Carroll
11
,
Christopher R McMaster
6
,
Reza Maroofian
1
Affiliations
1
Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, UK.
2
Institute of Human Genetics, Technical University Munich, Munich, Germany.
3
Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany.
4
Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands.
5
University Childrens Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.
6
Department of Pharmacology, Dalhousie University, Halifax, Canada.
7
Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
8
Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
9
Department of Neurology, Technical University of Munich, School of Medicine, Munich, Germany.
10
Provincial Clinical Genetic Counselling Center, Zahedan University of Medical Sciences Zahedan, Iran.
11
Genetics Centre, Molecular and Clinical Sciences Institute, St George's University of London, London, UK.
PMID:
33454747
PMCID:
PMC8041042
DOI:
10.1093/brain/awaa442
No abstract available
Publication types
Letter
Research Support, Non-U.S. Gov't
Comment
MeSH terms
Ataxia
Cerebellar Ataxia*
Humans
Muscle Spasticity
Phosphatidylethanolamines*
Substances
Phosphatidylethanolamines
Grants and funding
WT_/Wellcome Trust/United Kingdom
MR/S01165X/1/MRC_/Medical Research Council/United Kingdom
MR/S005021/1/MRC_/Medical Research Council/United Kingdom
G0601943/MRC_/Medical Research Council/United Kingdom