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Impact of APOE and MAPT genetic profile on the cognitive functions among Amyotrophic Lateral Sclerosis Tunisian patients
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Impact of APOE and MAPT genetic profile on the cognitive functions among Amyotrophic Lateral Sclerosis Tunisian patients
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Journal Article
Impact of APOE and MAPT genetic profile on the cognitive functions among Amyotrophic Lateral Sclerosis Tunisian patients
2025
Overview
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.
Publisher
Springer Vienna,Springer Nature B.V
