Hereditary spastic paraplegia in Mali: epidemiological and clinical features.
Hereditary spastic paraplegia in Mali: epidemiological and clinical features.
复制标题
马里的遗传性痉挛性截瘫：流行病学和临床特征。
DOI：
10.1007/s13760-022-02113-w
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发表时间：
2023
影响因子：
2.7
通讯作者：
中科院分区：
文献类型：
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作者：
Diarra,Salimata;Coulibaly,Thomas;Dembélé,Kékouta;Ngouth,Nyater;Cissé,Lassana;Diallo,SeybouH;Ouologuem,Madani;Diallo,Salimata;Coulibaly,Oumar;Bagayoko,Koumba;Coulibaly,Dramane;Simaga,Assiatou;Sango,HammadounA;Traoré,Mahamadou;
背景与目的遗传性痉挛性截瘫（遗传性痉挛性截瘫，HSP）是一组神经退行性疾病，分为单纯型和复杂型，仅表现为下肢痉挛，或分别伴有其他神经系统和非神经系统表现。尽管在其他人群中有广泛报道，但在撒哈拉以南非洲的数据很少。方法在马里巴马科“G点”教学医院神经内科对具有神经退行性特征的患者进行为期19个月的评估。热休克热的诊断是基于家族史和缺乏其他已知的非遗传原因。遗传分析包括候选基因和全外显子组测序，并使用预测工具和ACMG指南测试变异致病性。结果入选的170个遗传性神经系统疾病家庭中，16个具有与HSP一致的特征，发生率为9%。平均发病年龄为14.7岁，其中46%在6岁前发病。男女比例为2.6:1。75%的病例出现复杂形式，25%的病例出现单纯形式。所有患者均有锥体表现。相关特征包括智力低下、周围神经病变、癫痫、动眼肌损伤和尿急。大多数患者接受肌肉松弛剂和物理治疗，恢复性手术一次完成。基因检测在三个家族（19%）中发现了新的变异。结论本研究证实了热休克蛋白的临床变异性，并为现有文献增加了非洲的数据。
Background and purposeHereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases divided into pure and complex forms, with spasticity in lower limbs only, or associated with other neurologic and non-neurologic manifestations, respectively. Although widely reported in other populations, very little data exist in sub-Saharan Africa.MethodsPatients with neurodegenerative features were evaluated over a 19-month period at the Department of Neurology, Teaching Hospital of Point “G”, Bamako, Mali. The diagnosis of HSP was considered based on family history and the absence of other known non-genetic causes. Genetic analysis including candidate gene and whole exome sequencing was performed and variant pathogenicity was tested using prediction tools and ACMG guidelines.ResultsOf the 170 families with hereditary neurological disorders enrolled, 16 had features consistent with HSP, a frequency of 9%. The average age of onset was 14.7 years with 46% starting before age 6. The male/female ratio was 2.6:1. Complex forms were seen in 75% of cases, and pure forms in 25%. Pyramidal findings were present in all patients. Associated features included mental retardation, peripheral neuropathy, epilepsy, oculomotor impairment and urinary urgency. Most patients were treated with a muscle relaxant and physical therapy, and restorative surgery was done in one. Genetic testing identified novel variants in three families (19%).ConclusionThis study confirms the clinical variability of HSPs and adds African data to the current literature.