Impact of APOE and MAPT genetic profile on the cognitive functions among Amyotrophic Lateral Sclerosis Tunisian patients.

IF 3.2 4区 医学 Q2 CLINICAL NEUROLOGY Journal of Neural Transmission Pub Date : 2025-04-01 Epub Date: 2025-01-03 DOI:10.1007/s00702-024-02870-3
Ikram Sghaier, Imen Kacem, Antonia Ratti, Khouloud Takout, Youssef Abida, Silvia Peverelli, Nicola Ticozzi, Amina Gargouri-Berrachid, Vincenzo Silani, Riadh Gouider
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Abstract

Amyotrophic Lateral Sclerosis(ALS) has traditionally been managed as a neuromuscular disorder. However, recent evidence suggests involvement of non-motor domains. This study aims to evaluate the impact of APOE and MAPT genotypes on the cognitive features of ALS. We included confirmed ALS cases from the Neurology department at Razi University Hospital, Tunisia. APOE and MAPT screening were conducted with Sanger sequencing validation, and preliminary screening for four main ALS genes was performed. Clinical phenotypes and genotypes were analyzed using appropriate tests, with healthy controls (HC) representing the Tunisian population. Two-hundred-seventy ALS patients were included, stratified as 213 spinal cases,49 with bulbar onset and 8 patients with generalized form with 140 HC. Regarding APOE, we reported high frequency of ALS cases carrier of APOE-ε4 isoform compared to controls(p < 0.0001).We found a significant association between APOE-ɛ4 and ALS onset site (p = 0.05,r = 0.33),with higher frequencies in bulbar onset patients. Cognitive signs were more frequent in ɛ4 carriers (r = 0.43,p < 0.01),and a significant link was observed between dysexecutive functions and the APOE risk allele (p = 0.0495).Concerning the MAPT haplotypes, we reported high frequency of ALS cases carrier of MAPT H1-haplotype HC (94.45% and 72.14% respectively, p < 0.001).Among ALS cases,MAPT-H1 showed a stronger positive correlation with the presence of oculomotor signs(p = 0.05,r = 0.28).As well as significant positive association between cognitive impairments(p = 0.039,r = 0.59). Our findings emphasize the correlation between APOE and MAPT genotypes and the cognitive features in our ALS patients. We also observed other interesting, though weak, significant correlations (with coefficients not exceeding 0.20),which require further validation in a larger cohort to confirm our results.

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APOE和MAPT基因谱对肌萎缩性侧索硬化症突尼斯患者认知功能的影响
肌萎缩性侧索硬化症(ALS)传统上被视为神经肌肉疾病。然而,最近的证据表明,非运动域参与。本研究旨在评估APOE和MAPT基因型对ALS认知特征的影响。我们纳入了突尼斯Razi大学医院神经内科确诊的ALS病例。通过Sanger测序验证进行APOE和MAPT筛选,并对4个主要ALS基因进行初步筛选。临床表型和基因型分析使用适当的测试,健康对照(HC)代表突尼斯人口。纳入270例ALS患者,分为脊柱型213例,球茎型49例,全身性8例,HC 140例。关于APOE,我们报道了与对照组相比,携带APOE-ε4亚型的ALS病例的频率较高(p
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来源期刊
Journal of Neural Transmission
Journal of Neural Transmission 医学-临床神经学
CiteScore
7.20
自引率
3.00%
发文量
112
审稿时长
2 months
期刊介绍: The investigation of basic mechanisms involved in the pathogenesis of neurological and psychiatric disorders has undoubtedly deepened our knowledge of these types of disorders. The impact of basic neurosciences on the understanding of the pathophysiology of the brain will further increase due to important developments such as the emergence of more specific psychoactive compounds and new technologies. The Journal of Neural Transmission aims to establish an interface between basic sciences and clinical neurology and psychiatry. It intends to put a special emphasis on translational publications of the newest developments in the field from all disciplines of the neural sciences that relate to a better understanding and treatment of neurological and psychiatric disorders.
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