Faculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali.
Service de Neurologie, Centre Hospitalier Universitaire du Point G, Bamako, Mali.
Mali Med. 2022 Dec 26;37(4):61-65.
Autosomal recessive cerebellar ataxias (ARCA) are a group of rare and heterogynous neurodegenerative diseases mainly characterized by unbalance and walking difficulty and movement incoordination.
To clinically and paraclinically characterize ARCA in the department of Neurology at the Teaching Hospital of Point G and identify the underlying genetic defect.
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.
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.
This study showed that ARCA are not uncommon in Mali and genetic testing is crucial to confirm the diagnosis.
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，主要表现为平衡和行走困难以及运动协调障碍。
在 Point G 教学医院神经内科对 ARCA 进行临床和辅助检查，确定潜在的遗传缺陷。
我们进行了一项从 2018 年 1 月至 2020 年 12 月的纵向前瞻性研究。在 Point G 教学医院神经内科就诊的具有 ARCA 表型的患者纳入研究。
在获得知情口头和书面同意后，我们共纳入了 7 个家庭，共 13 名患者。男女比例为 2.2，有利于男性，Kayes 地区和富拉尼族分别是最具代表性的地区和族群。行走困难是主要症状，其次是振动和关节感觉丧失、眼球震颤、构音障碍和骨骼畸形。一名患者的甲胎蛋白水平升高。基因检测在一个家庭中证实为弗里德里希共济失调，在 4 个家庭中未得出明确结论。
本研究表明 ARCA 在马里并不罕见，基因检测对明确诊断至关重要。
