脊髓小脑共济失调2型的临床及基因研究（附一家系报道）

玉学 姚, 汝泉 周, 海燕 章, 俊 胡, 章龙 唐

摘要


遗传性脊髓小脑共济失调 2 型（SCA2）是一组具有临床和遗传异质性的神经系统遗传疾病，多呈常染色体显性遗传，主要表现为成年期发病、慢性进行性加重的肢体共济失调、构音障碍、眼扫视减慢及脑干“十字征”影像学症状。病变主要累及大脑、小脑、脑干及脊髓等，该病因 ATXN2 基因编码区 CAG 重复序列异常增多，导致细胞内包含体中突变蛋白（ataxin-2）的异常积累。目前尚无有效的治疗手段，早期干预和对症治疗为主。

关键词


遗传性脊髓小脑共济失调 2 型；ataxin-2；共济失调；眼扫视减慢；脑干“十字征”

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参考


Jacobi H, Minnerop M, Klockgether T. The geneties of spinocerebellar ataxias [J]. Nervenarzt,2013,84(2):137.

吴英,魏倩倩,商慧芳.脊髓小脑共济失调基因型分布及临床特点分析[J].中国实用内科杂志,2014,34(5):512.

Antenora A, Bruzzese D, Lieto M, et al. Predictors of survival inspinocerebellar ataxia type 2 population from Southern Italy[J]. Neurol Sci,2018,39(11):1857-1860.

Velazquez-Perez L, Rodriguez-Labrada R,Torres-Vega R, et al. Abnormal corticospinal tract function andmotor cortex excitability in non-ataxic, SCA2mutation carriers: A TMS study[J]. Clin Neuro-physiol 2016,127(8):2713-2719.

Velazquez-Perez L, Rodriguez-Labrada R, Canales-Ochoa N, et al. Progression of early features of spinocerebellar ataxia type2 in individuals at risk: a longitudinal study[J]. Lancet Neurol,2014(13):482-489.

Figueroa KP, Coon H, Santos N, et al. Genetic analysis of age at onset variation in spinocerebellar ataxia type 2[J]. Neurol Genet,2017,3(3):155.

Velazquez -Perez L, Rodriguez -Labrada R, Garcia-Rodriguez JC, et al. A compre-hensive review of spinocerebellar ataxia type 2 in Cuba[J]. Cerebellum,2011,10(2):184-198.

Figueroa KP, Coon H, Santos N, et al. Genetic analysis of age at onset variation in spinocerebellar ataxia type 2[J]. Neurol Genet,2017,3(3):155.

Maas RP, Van Gaalen J, Klockgether T, et al. The preclinical stage of spinocerebellar ataxias[J]. Neurology,2015,85(1):96-103.

Lo RY, Figueroa KP, Pulst SM, et al. Depression and clinical progression in spinocerebellar ataxias[J]. Parkinsonism Relat Disord,2016,22:87-92.

Ashizawa T, Figueroa KP, Perlman SL, et al. Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study[J]. Orphanet J Rare Dis,2013(8):177.

陈园园,郝莹,顾卫红,等.脊髓小脑共济失调2型临床和神经影像学特征分析[J].中国现代神经疾病杂志,2013,13(6):525-532.

Pulst SM. Degenerative ataxias, from genes to therapies: The 2015 Cotzias Lecture[J]. Neurology,2016,86(24):2284-2290.

Becker LA, Huang B, Bieri G, et al. Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice[J]. Nature,2017,544(7650):367-371.

Nakamura K, Mieda T, Suto N, et al. Mesenchymal stem cells asa potential therapeutictool for spinocerebellar ataxia[J]. Cerebellum,2015,14(2):165-170.

罗敏,胡丹,牛晓华,等.脊髓小脑共济失调3型诱导多能干细胞系的建立和神经分化[J].中国组织工程研究,2015,19(28):4555-4561.

周玲.脊髓小脑共济失调2型的最新诊疗进展[J].赤峰学院学报(自然科学版),2019,35(5):115-119.

Romano S, Coarelli G, Marcotulli C, et al. Riluzole in patientswith hereditary cerebellar ataxia: a randomised, double-blind,placebocontrolled trial[J]. Lancet Neurol,2015,14(10):985-91.

Zesiewicz TA, Wilmot G, Kuo SH, et al. Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology[J]. Neurology,2018, 90(10):464-471.

Scoles DR, Meera P, Schneider MD, et al.Antisense oligonucleotide therapy for spinocerebellar ataxia type 2[J].Nature,2017,544(7650):362-366.

Luis Veis Velazquez-Perez, DSc, PhD, et al. Prodromal Spinocerebellar Ataxia Type 2: Prospects for Early Interventions and Ethical Challenges[J]. Movement Disorders,2017(l):201.

Romano S, Coarelli G, Marcotulli C, et al. Riluzole in patientswith hereditary cerebellar ataxia: a randomised, double-blind, placebocontrolled trial[J]. Lancet Neurol,2015,14(10):985-991.

Egorova P A , Bezprozvanny I B. Molecular Mechanisms and Therapeutics for Spinocerebellar Ataxia Type 2[J].Neurotherapeutics,2019,16(10)81-88.




DOI: https://doi.org/10.12346/pmr.v3i3.3749

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