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A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1.

作者信息

Ame van der Beek Nadine, Nelson Isabelle, Froissart Roseline, Levade Thierry, Garcia Virginie, Lacene Emmanuelle, Boland Anne, Masson Cécile, Romero Norma B, Stojkovic Tanya, Bonne Gisèle, Béhin Anthony

机构信息

Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS 974, Center of Research in Myology, Institut de Myologie, F-75013, Paris, France.

出版信息

Eur J Hum Genet. 2019 Mar;27(3):337-339. doi: 10.1038/s41431-018-0250-z. Epub 2018 Oct 5.

DOI:10.1038/s41431-018-0250-z
PMID:30291339
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6460556/
Abstract
摘要

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本文引用的文献

1
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.血液中的全转录组测序可诊断伴有进行性肌阵挛性癫痫的脊髓性肌萎缩症。
Hum Mutat. 2017 Jun;38(6):611-614. doi: 10.1002/humu.23211. Epub 2017 Mar 28.
2
Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency.多关节关节炎和酸性神经鞘脂酶缺乏症的脊髓性肌萎缩。
Pediatrics. 2016 Oct;138(4). doi: 10.1542/peds.2016-1068. Epub 2016 Sep 20.
3
Spinal muscular atrophy associated with progressive myoclonus epilepsy.与进行性肌阵挛癫痫相关的脊髓性肌萎缩症。
Epileptic Disord. 2016 Sep 1;18(S2):128-134. doi: 10.1684/epd.2016.0858.
4
Acid ceramidase and the treatment of ceramide diseases: The expanding role of enzyme replacement therapy.酸性神经酰胺酶与神经酰胺疾病的治疗：酶替代疗法的不断扩展作用。
Biochim Biophys Acta. 2016 Sep;1862(9):1459-71. doi: 10.1016/j.bbadis.2016.05.001. Epub 2016 May 4.
5
ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.导致轻度脊髓性肌萎缩症表型且无肌阵挛性癫痫的ASAH1变异体：一项临床、生化和分子研究。
Eur J Hum Genet. 2016 Nov;24(11):1578-1583. doi: 10.1038/ejhg.2016.28. Epub 2016 Mar 30.
6
Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy.酸性神经酰胺酶缺乏症与伴有进行性肌阵挛癫痫的脊髓性肌萎缩相关。
Neuromuscul Disord. 2015 Dec;25(12):959-63. doi: 10.1016/j.nmd.2015.09.007. Epub 2015 Sep 16.
7
Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.与进行性肌阵挛癫痫相关的脊髓性肌萎缩症：一种由ASAH1基因突变引起的罕见病症。
Epilepsia. 2015 May;56(5):692-8. doi: 10.1111/epi.12977. Epub 2015 Apr 3.
8
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.伴有进行性肌阵挛癫痫的脊髓性肌萎缩症临床、遗传及生化变异性的证据。
Clin Genet. 2014 Dec;86(6):558-63. doi: 10.1111/cge.12307. Epub 2013 Nov 21.
9
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.伴进行性肌阵挛癫痫的脊髓性肌萎缩症是由 ASAH1 基因突变引起的。
Am J Hum Genet. 2012 Jul 13;91(1):5-14. doi: 10.1016/j.ajhg.2012.05.001. Epub 2012 Jun 14.
10
Hereditary myoclonus and progressive distal muscular atrophy.遗传性肌阵挛与进行性远端肌肉萎缩。
Ann Neurol. 1979 Sep;6(3):227-31. doi: 10.1002/ana.410060309.