马里常染色体隐性小脑共济失调(ARCA)的临床,临床旁和遗传方面。

Le Mali medical Pub Date : 2022-12-26
Cak Cissé, L Cissé, O Samassékou, H O Ba, T Coulibaly, S H Diallo, S Diallo, A Taméga, S Diarra, A B Maïga, F Kané, A Yalcouyé, A Bocoum, M E Dembélé, O Traoré, A Simaga, S F Traoré, M Keita, K Fischbeck, M Traoré, C O Guinto, G Landouré
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引用次数: 0

摘要

常染色体隐性小脑共济失调(ARCA)是一组罕见的异质性神经退行性疾病,主要表现为不平衡、行走困难和运动不协调。目的:探讨G点教学医院神经内科ARCA的临床和临床特征,并确定其潜在的遗传缺陷。患者和方法:我们于2018年1月至2020年12月进行了一项纵向和前瞻性研究。在Point“G”教学医院神经内科观察到的ARCA表型患者被纳入研究。结果:在获得口头和书面知情同意后,我们招募了7个家庭共计13名患者。男女性别比为2.2,凯耶族和富拉尼族分别是最具代表性的地区和民族。行走困难是主要症状,其次是震动和关节感觉丧失、眼球震颤、构音障碍和骨骼畸形。1例患者甲胎蛋白水平高。基因检测证实1个家族为弗里德赖希共济失调,4个家族未确诊。结论:本研究表明ARCA在马里并不罕见,基因检测对确诊至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Clinical, paraclinical and genetic aspects of autosomal recessive cerebellar ataxias (ARCA) in Mali.

Introduction: Autosomal recessive cerebellar ataxias (ARCA) are a group of rare and heterogynous neurodegenerative diseases mainly characterized by unbalance and walking difficulty and movement incoordination.

Objectives: To clinically and paraclinically characterize ARCA in the department of Neurology at the Teaching Hospital of Point G and identify the underlying genetic defect.

Patients and method: We have conducted a longitudinal and prospective study from January 2018 to December 2020. Patients with ARCA phenotype seen in the Department of Neurology at the Teaching Hospital of Point "G" were enrolled.

Results: We have enrolled 7 families totaling 13 patients after giving an informed verbal and written consent. The sex ratio was 2.2 in favor of males, Kayes region and Fulani ethnic group were respectively the most represented region and ethnic group.Walking difficulty represented the major symptom followed by loss of vibration and joint sense, nystagmus, dysarthria and skeletal deformities. Alpha-foetoprotein level was high in one patient. Genetic testing confirmed Friedreich ataxia in one family and was not conclusive in 4 families.

Conclusion: This study showed that ARCA are not uncommon in Mali and genetic testing is crucial to confirm the diagnosis.

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