Childhood-onset writer's cramp, with later ataxia: A clue to COQ8A-related disorders.
作者信息
Stephen Christopher D
机构信息
Ataxia Center, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Dystonia Center, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
出版信息
Parkinsonism Relat Disord. 2024 Jun;123:106014. doi: 10.1016/j.parkreldis.2024.106014. Epub 2024 Feb 7.
Abstract
摘要
相似文献
1
Childhood-onset writer's cramp, with later ataxia: A clue to COQ8A-related disorders.
Parkinsonism Relat Disord. 2024 Jun;123:106014. doi: 10.1016/j.parkreldis.2024.106014. Epub 2024 Feb 7.
2
Childhood-onset writer's cramp and cerebellar ataxia: A neurological conundrum.
Parkinsonism Relat Disord. 2024 Jun;123:105947. doi: 10.1016/j.parkreldis.2023.105947. Epub 2023 Dec 14.
3
Familial writer's cramp: a clinical clue for inherited coenzyme Q deficiency.
Neurogenetics. 2021 Mar;22(1):81-86. doi: 10.1007/s10048-020-00624-3. Epub 2020 Aug 24.
4
Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.
Parkinsonism Relat Disord. 2019 Nov;68:8-16. doi: 10.1016/j.parkreldis.2019.09.015. Epub 2019 Sep 28.
5
Writer's Cramps as an Initial Symptom of Spinocerebellar Ataxia Type 14.
Intern Med. 2024 Aug 1;63(15):2183-2186. doi: 10.2169/internalmedicine.2943-23. Epub 2023 Dec 11.
6
Prospective clinical study of writer's cramp.
Mov Disord. 2001 May;16(3):494-9. doi: 10.1002/mds.1094.
7
The basal ganglia are hyperactive during the discrimination of tactile stimuli in writer's cramp.
Brain. 2006 Oct;129(Pt 10):2697-708. doi: 10.1093/brain/awl181. Epub 2006 Jul 19.
8
Structural abnormalities in the cerebellum and sensorimotor circuit in writer's cramp.
Neurology. 2007 Jul 24;69(4):376-80. doi: 10.1212/01.wnl.0000266591.49624.1a.
9
SCA 6 with Writer's Cramp: The Phenotype Expanded.
Mov Disord Clin Pract. 2015 Aug 26;3(1):83-86. doi: 10.1002/mdc3.12222. eCollection 2016 Jan-Feb.
10
Three brothers with a very-late-onset writer's cramp.
Mov Disord. 2005 Oct;20(10):1375-7. doi: 10.1002/mds.20568.
引用本文的文献
1
Natural History of Dystonia in SYNE1 Ataxia: A Clinical, Imaging and Neurophysiological Observation.
Mov Disord Clin Pract. 2025 Jan;12(1):100-104. doi: 10.1002/mdc3.14224. Epub 2024 Oct 9.
本文引用的文献
1
Childhood-onset writer's cramp and cerebellar ataxia: A neurological conundrum.
Parkinsonism Relat Disord. 2024 Jun;123:105947. doi: 10.1016/j.parkreldis.2023.105947. Epub 2023 Dec 14.
2
The Dystonias.
Continuum (Minneap Minn). 2022 Oct 1;28(5):1435-1475. doi: 10.1212/CON.0000000000001159.
3
The Phenotypic Continuum of -Related Disorders.
Neurology. 2022 Oct 4;99(14):e1511-e1526. doi: 10.1212/WNL.0000000000200927. Epub 2022 Jul 18.
4
Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.
Mov Disord. 2021 May;36(5):1086-1103. doi: 10.1002/mds.28485. Epub 2021 Jan 27.
5
Clinical characteristics of ataxia-telangiectasia presenting dystonia as a main manifestation.
Clin Neurol Neurosurg. 2020 Dec;199:106267. doi: 10.1016/j.clineuro.2020.106267. Epub 2020 Oct 3.
6
DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations.
Neurology. 2021 Apr 6;96(14):e1887-e1897. doi: 10.1212/WNL.0000000000010882. Epub 2020 Sep 17.
7
Familial writer's cramp: a clinical clue for inherited coenzyme Q deficiency.
Neurogenetics. 2021 Mar;22(1):81-86. doi: 10.1007/s10048-020-00624-3. Epub 2020 Aug 24.
8
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Ann Neurol. 2020 Aug;88(2):251-263. doi: 10.1002/ana.25751. Epub 2020 Jun 10.
9
Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.
Parkinsonism Relat Disord. 2019 Nov;68:8-16. doi: 10.1016/j.parkreldis.2019.09.015. Epub 2019 Sep 28.
10
Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum.
Mov Disord. 2018 Jan;33(1):146-155. doi: 10.1002/mds.27174. Epub 2017 Sep 13.
Zotero 插件