Atypical parkinsonian syndromes in a North African tertiary referral center

Nasri, Amina; Djebara, Mouna Ben; Sghaier, Ikram; Mrabet, S.; Zidi, Salah; Gargouri, Amina; Kacem, Imen; Gouider, Riadh

doi:10.1002/brb3.1924

Cited by 5 publications

(8 citation statements)

References 37 publications

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“…In this study, we depicted the cognitive profile of Tunisian patients with MSA and provided first data on clinical and genetic determinants of CI. As reported in our recent epidemiological study on Tunisian APS [ 34 ], we noted a predominance of female gender and MSA-P motor subtype mostly of PIGD phenotype.…”

Section: Discussionsupporting

confidence: 82%

Determinants of cognitive impairment in multiple system atrophy: Clinical and genetic study

et al. 2022

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Introduction Classically, cognitive impairment (CI) was not considered as a paramount feature of multiple system atrophy(MSA) in both parkinsonian(MSA-P) and cerebellar(MSA-C) motor-subtypes. Yet, growing evidence indicates currently the commonness of such deficits among MSA patients in different populations. Our aim was to evaluate the cognitive profile of MSA Tunisian patients and to analyze the underlying clinical and genetic determinants Methods In a retrospective cross-sectional study, clinically-diagnosed MSA patients were included. All subjects underwent clinical and neuropsychological assessments to characterize their cognitive profile. The associations with their APOE genotype status were analyzed. Determinant of CI were specified. Results We included 71 MSA patients. Female gender(sex-ratio = 0.65) and MSA-P subtype(73%) were predominant. Mean age of disease onset was 59.1years. CI was found in 85.7% of patients(dementia in 12.7% and Mild cognitive impairment(MCI) in 73% of patients mainly of multiple-domain amnestic type(37.3%)). Mean MMSE score was lower among MSA-P compared to MSA-C(23.52 vs. 26.47;p = 0.027). Higher postural instability gait disorder(PIGD) and MDS-UPDRS-III scores were noted in demented MSA patients(p = 0.019;p = 0.015 respectively). The main altered cognitive domain was attention(64.8%). Executive functions and mood disorders were more affected in MSA-P(p = 0.029,p = 0.035 respectively). Clinical and neurophysiological study of dysautonomia revealed no differences across cognitive subtypes. APOE genotyping was performed in 51 MSA patients with available blood samples. Those carrying APOEε4 had 1.32 fold higher risk to develop CI, with lower MMSE score(p = 0.0001). Attention and language were significantly altered by adjusting the p value to APOEɛ4 carriers(p = 0.046 and p = 0.044 respectively). Executive dysfunction was more pronounced among MSA-PAPOEε4 carriers(p = 0.010). Conclusion In this study, the main determinants of CI in Tunisian MSA patients were MSA-P motor-subtype, mainly of PIGD-phenotype, disease duration and APOEε4 carrying status, defining a more altered cognitive phenotype. This effect mainly concerned executive, attention and language functions, all found to be more impaired in APOEε4 carriers with variable degrees across MSA motor-subtypes.

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Section: Discussionsupporting

confidence: 82%

Determinants of cognitive impairment in multiple system atrophy: Clinical and genetic study

et al. 2022

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“…To the best of our knowledge, only few studies have been published on APS in Africa and even less on their genetic determinants. 13 As reported in our recent epidemiological study on Tunisian APS, 13 the age of onset of Parkinsonism was the most decisive feature for differential diagnosis between APS subgroups in our cohort.…”

Section: Discussionsupporting

confidence: 60%

“…We recently reported a large Tunisian cohort of APS and showed their relative frequency among Parkinsonian syndromes. Age of onset of Parkinsonian syndrome was the most decisive feature for differential diagnosis with sex risk variability in developing APS 13. However, the genetic profile of Tunisian APS is still understudied and should be investigated in greater depth in order to enhance the ability to discriminate between these diseases and their different phenotypes.…”

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confidence: 99%

“…Age of onset of Parkinsonian syndrome was the most decisive feature for differential diagnosis with sex risk variability in developing APS. 13 However, the genetic profile of Tunisian APS is still understudied and should be investigated in greater depth in order to enhance the ability to discriminate between these diseases and their different phenotypes. Among genetic factors, we hypothesize that APOE may play a role in modulating the phenotype of Tunisian APS patients.…”

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confidence: 99%

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Role of Apolipoprotein E in the Clinical Profile of Atypical Parkinsonian Syndromes

Nasri

Sghaier

Gharbi

et al. 2022

Alzheimer Disease &Amp; Associated Disorders

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Introduction: Atypical Parkinsonian syndromes (APS) encompass a spectrum of neurodegenerative diseases including dementia with Lewy bodies (DLB), progressive supranuclear palsy (PSP), multiple system atrophy (MSA), and corticobasal syndrome (CBS). The effects of the Apolipoprotein E (APOE) gene on APS clinical features are controversial and understudied in several populations. We aimed to explore the influence of APOE genotype on clinical features in an APS Tunisian cohort. Methods: We included clinically diagnosed APS patients genotyped for APOE, and analyzed the clinical and APOE genotype associations. Results: A total of 328 APS patients were included, comprising 184 DLB, 58 PSP, 49 MSA, and 37 CBS. Significant differences in initial Mini-Mental State Examination and Frontal Assessment Battery scores according to APOE genotypes (P=0.05 and 0.0048) were found. Executive dysfunction (P=0.026) disorientation (P=0.025), and hallucinations (P<0.001) were more pronounced among APOE-ɛ4 carriers particularly in DLB. Memory disorders were also correlated to APOE-ɛ4 allele (P=0.048) and were more frequent among DLB and PSP carriers. Depression was associated to APOE-ε4 (P=0.042), more markedly in APOE-ε4-CBS and MSA carriers. Conclusions: Our findings suggested a role of APOE-ε4 in defining a more altered cognitive phenotype with variable degrees across subgroups in APS patients, especially in DLB carriers. This effect mainly concerned executive, memory and orientation functions as well as hallucinations.

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“…In the present study, we classified the patients into three clinical subtypes according to initial symptoms and highlighted the characteristics of each subtype. To our knowledge, this large cohort of DLB patients is the first Tunisian and African study describing the clinical and cognitive features, genetic and prognostic factors of DLB according to clinical subtypes [11].…”

Section: Discussionmentioning

confidence: 99%

Subtypes of Dementia with Lewy Bodies: Clinical Features, Survival, and Apolipoprotein E Effect

Gharbi,

Nasri,

Sghaier

et al. 2023

Journal of Alzheimer's Disease Reports

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Background: Dementia with Lewy bodies (DLB) is a progressive neurodegenerative disease with various clinical symptoms. Limited data have described the clinical subtypes of DLB. Objective: We aimed to compare clinical subtypes of DLB according to initial symptoms and to study the effect of Apolipoprotein E (APOE) gene in DLB. Methods: We included DLB patients classified into three groups based on initial symptoms: non-motor onset (cognitive and/or psychiatric) (NMO-DLB), motor onset (parkinsonism and/or gait disorders) (MO-DLB), and mixed onset (non-motor and motor symptoms) (MXO-DLB). Clinical and APOE genotype associations and survival were analyzed. Results: A total of 268 patients were included (NMO-DLB = 75%, MXO-DLB = 15.3%, MO-DLB = 9.7%). Visual hallucinations were more frequent (p = 0.025), and attention was less commonly impaired in MXO-DLB (p = 0.047). When adjusting with APOE ɛ4 status (APOE genotype performed in 155 patients), earlier falls and frontal lobe syndrome were more common in MXO-DLB (p = 0.044 and p = 0.023, respectively). The median MMSE decline was 2.1 points/year and the median FAB decline was 1.9 points/year, with no effect of clinical subtypes. Median survival was 6 years. It was similar in DLB subtypes (p = 0.62), but shorter for patients with memory symptoms at onset (p = 0.04) and for males (p = 0.0058). Conclusions: Our study revealed a few differences between DLB clinical subtypes. APOE ɛ4 appears to be associated with earlier falls and a higher prevalence of frontal syndrome in MXO-DLB. However, DLB clinical subtypes did not impact on survival. Nevertheless, survival analysis identified other poor prognosis factors, notably inaugural memory impairment and male gender.

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Atypical parkinsonian syndromes in a North African tertiary referral center

Cited by 5 publications

References 37 publications

Determinants of cognitive impairment in multiple system atrophy: Clinical and genetic study

Determinants of cognitive impairment in multiple system atrophy: Clinical and genetic study

Role of Apolipoprotein E in the Clinical Profile of Atypical Parkinsonian Syndromes

Subtypes of Dementia with Lewy Bodies: Clinical Features, Survival, and Apolipoprotein E Effect

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