|
|
|
| A case report of progressive myoclonus-ataxia syndrome caused by ATL1 gene mutation and literature review |
| ZHAO He1 ZHONG Liqun2 GUO Haijiao2 CHEN Baixue2 LYU Jingmin2 CHEN Xu2 YANG Jie3 WEI Jingpei2#br# |
1.The First Clinical Medical School, Beijing University of Chinese Medicine, Beijing 100029, China;
2.the First Department of Neurology, Dongzhimen Hospital, Beijing University of Chinese Medicine, Beijing 100700, China;
3.Chinese Medicine Data Center, Chinese Academy of Chinese Medical Sciences, Beijing 100700, China
|
|
|
|
Abstract This paper retrospectively analyzes the clinical data of a patient with progressive myoclonus-ataxia admitted to the First Department of Neurology, Dongzhimen Hospital, Beijing University of Chinese Medicine, and discusses its clinical characteristics, diagnosis, and treatment. The patient started with myoclonus, and gradually developed symptoms of ataxia. Molecular genetic testing revealed a heterozygous mutation of the ATL1 gene. After oral administration of Clonazepam, the symptoms of myoclonus were relieved. This paper analyzes the diagnosis and treatment process and clinical data of the patient and reviews the literature reports related to the molecular genetics of the disease, providing experience for the clinical diagnosis of this disease for the reference of clinicians.
|
|
|
|
|
|
[1] Rossi M，Balint B，Millar vernetti P，et al. Genetic Dystonia-ataxia Syndromes：Clinical Spectrum，Diagnostic Approach，and Treatment Options [J]. Mov Disord Clin Pract，2018，5（4）：373-382.
[2] Balint B，Bhatia KP. Isolated and combined dystonia syndromes-an update on new genes and their phenotypes [J]. Eur J Neurol，2015，22（4）：610-617.
[3] Rossi M，Van der veen S，Merello M，et al. Myoclonus-Ataxia Syndromes：A Diagnostic Approach [J]. Mov Disord Clin Pract，2021，8（1）：9-24.
[4] Classification of progressive myoclonus epilepsies and related disorders. Marseille Consensus Group [J]. Annals of neurology，1990，28（1）：113-116.
[5] Teive h AG，Cassou E，Coutinho L，et al. Ramsay Hunt syndrome：New impressions in the era of molecular genetics [J]. Parkinsonism Relat Disord，2022，97：101-104.
[6] Van der veen S，Zutt R，Elting JWJ，et al. Progressive myoclonus ataxia：Time for a new definition? [J]. Mov Disord，2018，33（8）：1281-1286.
[7] Pennacchio LA，Lehesjoki AE，Stone NE，et al. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy （EPM1） [J]. Science，1996，271（5256）：1731-1734.
[8] 孙翀，陆珺，奚剑英.线粒体基因突变相关肌阵挛性癫痫伴破碎红纤维-叠加综合征一例[J].中华神经科杂志，2021，54（10）：1059-1063.
[9] 何倩，王雪梅，罗结仪.唾液酸沉积症的研究现状[J].中华神经医学杂志，2022，21（8）：858-861.
[10] Kaur R，Balaini N，Sharma S，et al. Lafora body disease：a case of progressive myoclonic epilepsy [J]. BMJ Case Rep，13（12）：e236971.
[11] 王瑶，禚志红，孔惠敏，等.神经元蜡样脂褐质沉积症3例临床及基因变异分析[J].临床儿科杂志，2021，39（5）：386-390.
[12] Nigri A，Visani E，Bertolino N，et al. Cerebellar Involvement in Patients with Mild to Moderate Myoclonus Due to EPM1：Structural and Functional MRI Findings in Comparison with Healthy Controls and Ataxic Patients [J]. Brain Topogr，2017，30（3）：380-389.
[13] 景朝阳.进行性肌阵挛性共济失调致病基因鉴定研究[D].长春：吉林大学，2018.
[14] 吴玉婷，卢茜，谢旭芳.以癫痫为首发症状的齿状核红核苍白球路易体萎缩症1例报告[J].中风与神经疾病杂志，2022，39（5）：444-446.
[15] Bonduelle M，Escourolle R，Bouygues P，et al. Familial olivo-ponto-cerebellar atrophy with myoclonus. Limits of cerebellar myoclonic dyssynergia （Ramsay-Hunt syndrome） [J]. Rev Neurol （Paris），1976，132（2）：113-124.
[16] Van der veen S，Zutt R，Klein C，et al. Nomenclature of Genetically Determined Myoclonus Syndromes：Recommendations of the International Parkinson and Movement Disorder Society Task Force [J]. Mov Disord，2019，34（11）：1602- 1613.
[17] Lichao S，Jianguo W，Chunlan L，et al. Report of progressive myoclonus ataxia （PMA） in two Chinese pedigrees [J]. Neurol Res，2016，38：893-896.
[18] Mazzola L，Oliver KL，Labalme A，et al. Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS [J]. Ann Neurol，2021，89（2）：402-407.
[19] Mahale RR，Tiwari R，Arunachal G，et al. Myoclonus epilepsy and ataxia due to potassium channel mutation （MEAK）：a cause of progressive myoclonic epilepsy [J]. Acta Neurol Belg，2022，122（3）：801-803.
[20] Bott LC，Forouhan M，Lieto M，et al. Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy [J]. Brain Commun，2021，3（4）：fcab245.
[21] Visser J，Bloem B，Van de warrenburg B. PRKCG mutation （SCA-14） causing a Ramsay Hunt phenotype [J]. Mov Disord，2007，22（7）：1024-1026.
[22] Guerrero-lópez R，García-ruiz P，Giráldez B，et al. A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure [J]. Mov Disord，2012，27（14）：1826-1827.
[23] Van egmond M，Verschuuren-bemelmans C，Nibbeling E，et al. Ramsay Hunt syndrome：clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation [J]. Mov Disord，2014，29（1）：139-143.
[24] Charlesworth G，Balint B，Mencacci N，et al. SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy [J]. Mov Disord，2016，31（8）：1249- 1251.
[25] 廖林锋.基于SLC25A46基因敲除小鼠模型评价雨生红球藻的线粒体保护功效[D].广州：华南理工大学，2020.
[26] Kim J，Kim I，Koh SB. A novel variant of dehydrodolichol diphosphate synthase （DHDDS） mutation with adult-onset progressive myoclonus ataxia [J]. Parkinsonism Relat Disord，2021，87：135-136.
[27] 杨迪，高正玉，王强.遗传性痉挛性截瘫的综合性认识与治疗现状[J].青岛大学学报医学版，2020，56（4）：500- 504.
[28] 何秉涛，黄美欢，贠国俊.遗传性痉挛性截瘫基因分型、分子诊断和治疗的研究进展[J].中国优生与遗传杂志，2022，30（3）：516-519.
[29] Blackstone C. Converging cellular themes for the hereditary spastic paraplegias [J]. Curr Opin Neurobiol，2018，51：139-146.
[30] Saputra L，Kumar KR. Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia [J]. Curr Neurol Neurosci Rep，2021，21：15.
[31] 郑备红，孙艳，邱淑敏.全外显子测序技术鉴定一个常染色体显性遗传性痉挛性截瘫型家系基因突变[J].实用医学杂志，2021，37（13）：1761-1764.
[32] Mou Y，Dong Y，Chen Z，et al. Impaired lipid metabolism in astrocytes underlies degeneration of cortical projection neurons in hereditary spastic paraplegia [J]. Acta Neuropathol Commun，2020，8：214.
[33] Hsu SL，Hsueh HW，Chen SY，et al. Clinical and genetic characterization of hereditary spastic paraplegia type 3A in Taiwan [J]. Parkinsonism Relat Disord，2021，87：87-91.
[34] Fassier C，Hutt JA，Scholpp S，et al. Zebrafish atlastin controls motility and spinal motor axon architecture via inhibition of the BMP pathway [J]. Nat Neurosci，2010，13：1380- 1387.
[35] 李韶，莫修凤，陈嘉峰.肌阵挛性小脑协调障碍1例报告[J].中风与神经疾病杂志，2015，32（2）：184-185. |
|
|
|
