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.
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.
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).
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.
Background
A wide range of neurological manifestations has been described in COVID-19.
Methods
In this nationwide retrospective observational study, patients in Tunisia diagnosed with COVID-19 ...between the 2nd of March and the 16th of May 2020 were contacted by telephone. We collected demographic and clinical data and specified characteristics and evolution of main neurological symptoms.
Results
Of 1034 confirmed COVID-19 patients, 646 were included (mean age 42.17 years old) and 466 (72.1%) had neurological symptoms. Neurological symptoms were isolated 22.7% (
n
= 106). Headache was the most frequent neurological symptom (
n
= 279, 41.1%): mainly frontotemporal (
n
= 143, 51.1%) and mild or moderate (
n
= 165, 59.1%). When associated with fever (
n
= 143, 51.3%), headache was more likely to be severe and present at onset. Recovery was reported in 83.2%. Smell and taste impairment were found in 37.9% (
n
= 245) and 36.8% (
n
= 238) respectively. Among them, 65.3% (156/239) were anosmic and 63.2% (146/231) were ageusic. A complete improvement was found in 72.1% (174/240) of smell impairment and in 76.8% (179/233) of taste impairment. Myalgia (
n
= 241, 37.3%) and sleep disturbances (
n
= 241, 37.3%) were also frequent. Imported cases had more neurological symptoms (
p
= 0.001). In 14.5%, neurological symptoms preceded the respiratory signs (RS). RS were associated with more frequent (
p
= 0.006) and numerous (
p
< 0.001) neurological symptoms.
Conclusions
Neurological symptoms in COVID-19 are frequent, can be isolated and present at onset. A total recovery is the most recorded outcome. RS are predictive of neurological symptoms. Studies in to virus and host genetics should be considered to understand the different phenotypes.
Introduction
Data on epidemiology of atypical parkinsonian syndromes (APS) in North African countries are limited. Our objective was to study the epidemiological features of APS in a Tunisian ...population.
Methods
We conducted a 17‐year retrospective cross‐sectional descriptive study in the Department of Neurology at Razi University Hospital. We included all patients responding to consensus diagnosis criteria of APS. We recorded demographic and clinical data. Group differences were assessed with a post hoc ANOVA with a Bonferroni error correction.
Results
We included 464 APS patients. Hospital prevalence of APS among all parkinsonism cases was 20.6%. Mean annual increase of incidence defined as newly diagnosed APS cases per year reached 38.8%/year. APS were divided into 4 etiological subgroups: dementia with Lewy bodies (DLB; 56.7%); progressive supranuclear palsy(PSP; 16.2%); multiple system atrophy (MSA; 14.6%); and finally corticobasal syndrome (CBS; 12.5%). Sex‐ratio was 1.2. This male predominance was found in all subgroups except MSA (p = .013). Mean age at onset was 68.5 years, most belated in DLB (69.7 years; p < .001). Young‐onset parkinsonism (<40 years) was found only in MSA subgroup (p = .031). Parkinsonism was of late onset (>70 years) in 50.7% of patients and was significantly associated with DLB subgroup (p = .013). Inaugural parkinsonism was associated with CBS and MSA (p = .0497), and gait disorders at disease onset were associated with PSP and MSA (p = .0062). Cognitive and mood disorders were more marked in DLB and most preserved in MSA. Consanguinity was more marked in CBS (p = .037), and family history of dementia and psychiatric diseases was more common in DLB. Thirty‐seven families with similar cases of APS were identified.
Conclusions
This is the largest African epidemiological study on APS. In our population, APS were frequent and dominated by DLB. The age of onset of parkinsonism was the most decisive feature for differential diagnosis.
In this paper, we described the largest cohort of atypical parkinsonian syndromes (APS) ever reported in both sub‐Saharan and North African countries comprising 464 Tunisian patients with APS. In our population, APS were frequent and dominated by DLB. The age of onset of parkinsonian syndrome was the most decisive feature for differential diagnosis.
Background. Amyotrophic lateral sclerosis (ALS) is a fatal disease whose diagnosis and early management can improve survival. The most used diagnostic criteria are the revised El Escorial criteria ...(rEEC) and Awaji criteria (AC). The comparison of their sensitivities showed contradictory results. Our study aimed to compare the sensitivities of these two criteria in the diagnosis of definite ALS, at first visit, in a Tunisian hospital cohort. Materials and Methods. This was a retrospective study including 173 patients diagnosed with ALS at the Department of Neurology of the Razi Hospital between January 2003 and April 2018.After studying the clinical features of the disease in our study population,each patient was categorized according to the rEEC and AC based on data collected in his medical record during his first visit to our department. Then, we compared the sensitivities of these two criteria in the diagnosis of definite ALS. Results. Our Tunisian cohort was characterized by a slower disease progression. The sensitivity of the AC (69.4%) was significantly higher than that of the rEEC (40.5%) (p < 0.001). When the clinical signs evolved for less than 6 months, the sensitivities were 61% for AC and 12% for rEEC (p < 0.001). After 24 months of disease progression, the sensitivities were 78.2% for AC and 69.1% for rEEC (p = 0.063). It was impossible to categorize seventeen patients by the two criteria. Conclusion. Our study demonstrated that patients in AC are more sensitive than rEEC in the early diagnosis of ALS in our Tunisian cohort. However, this superiority is gradually reduced during the evolution of the disease.
Stroke in Djibouti NOUR, Mohamed AHMED; MRABET, Saloua; MAIDAL, Mouled ALI ...
African Journal of Emergency Medicine,
06/2022, Letnik:
12, Številka:
2
Journal Article
Recenzirano
Odprti dostop
•Sub-Saharan Africa is experiencing an increasing burden of stroke, with current prevalence as high as 1.46 per 1000 population.•Limited cohort studies exist to profile the epidemiological, clinical ...and paraclinical characteristics of stroke in this setting.•Identifying the most at-risk population for ischemic and haemorrhagic stroke can improve approaches for prevention in this setting.
Stroke is a neurological emergency affecting both developed and developing countries. In Djibouti, stroke is the fourth leading cause of death. Our objective was to describe the demographic, clinical, paraclinical profile of stroke in Djibouti and identify the possible underlying risk factors.
We conducted a cross-sectional multicentre study carried out over a period of 6 months in the medical services of the Soudano-Djibouti military hospital, the General Peltier hospital and the emergency department of the National fund for social security health centre.
A total of seventy patients were included. The mean age was 59.61 years with a male predominance (sex ratio: 2.5) and a statistically significant female-related difference beyond the age of 60 years (p <10−3). Cardiovascular risk factors were mainly hypertension (73%), khat chewing (64%) and tobacco use (50%). Khat chewing and tobacco use were associated with a younger age of occurrence of stroke (p=0.020 and p=0.004, respectively). Diabetes mellitus and hypercholesterolemia were found respectively in 30% and 19% of cases, and were more associated with ischemic stroke. Coronary disease (11%), heart failure (3%) and obesity (4%) (significantly associated with the female gender; p= 0,021) were less common. Motor deficits (94%) were the most common clinical manifestations, followed by sensory deficits (51%) and alteration of consciousness (37%). Stroke was ischemic in 61.5% of patients. The most affected territory in ischemic stroke was the territory of the middle cerebral artery, and capsulo-thalamic involvement in haemorrhagic stroke which was significantly associated with the alteration of consciousness(p=0,003).
Stroke had primarily modifiable risk factors in Djiboutian patients dominated by high blood pressure, tobacco use and khat chewing especially in the male population under the age of 60 years. These findings could have implications on future preventive measures and a better approach to public health policy.
ABSTRACT
Aims. Unverricht‐Lundborg disease (ULD), an autosomal recessive progressive myoclonus epilepsy, is due to an expansion, or less commonly a mutation, of the cystatin B (CSTB) gene. We report ...a clinical and molecular study of a Tunisian ULD family with five affected members presenting with a juvenile myoclonic epilepsy (JME)‐like phenotype.
Methods. The expansion of dodecamers was detected by a deamination/PCR assay. The expression profiles of CSTB and other candidate modifying genes, cathepsin B and cystatin C, were established by quantitative RT‐PCR, and their respective transcription levels were compared with those from patients with a classic picture of ULD.
Results. Three patients had a fixed phenotype mimicking JME after 29 years of evolution. Only a discrete dysarthria was noticed in the two other patients. No correlation was observed between transcription level and severity of disease.
Conclusion. Genetic screening should be performed in patients with a JME‐like phenotype, when careful examination reveals discrete atypical signs of JME. This particular phenotype may be due to modifying genes and/or gene‐environment interactions which require further clarification.
Painful ophthalmoplegia is a common presenting symptom in neuro-ophthalmology emergencies. We report an unusual case of a recurrent painful ophthalmoplegia due to a third nerve schwannoma mimicking « ...ophthalmoplegic migraine ». A 18 year-old girl had presented 4 episodes of left eye painful ophthalmoplegia respectively in 8, 13, 16 and 17 years old. One year after the last episode, neurological examination was normal. Brain MRI focused on the oculomotor nerve showed an enhancing nodular lesion suggesting a third nerve schwannoma. Thus, recurrent painful ophthalmoplegia revealing oculomotor nerve schwannoma, as described in our case, is exceptional. To our knowledge, only thirteen cases have been reported in the literature. Third nerve schwannoma is a rare cranial nerve tumor, typically revealed by progressive palsy of the oculomotor nerve. Recurrent painful ophthalmoplegia with persistent headache and enhancement in brain imaging should suggest tumoral lesions.
In North African populations, G2019S mutation in LRRK2 gene, encoding for the leucine-rich repeat kinase 2, is the most prevalent mutation linked to familial and sporadic Parkinson's disease (PD). ...Early detection of G2019S by fast genetic testing is very important to guide PD's diagnosis and support patients and their family caregivers for better management of their life according to disease's evolution.
In our study, a genetic PD's diagnosis tool was developed for large scale genotyping using Kompetitive Allele Specific PCR (KASP) technology. We investigated G2019S's frequency in 250 Tunisian PD patients and 218 controls.
We found that 33.6% of patients and 1.3% of controls were carriers. Demographic characteristics of patients with G2019S had no differences compared with non-carrier patients. Thereby, we could emphasize the implication of G2019S in PD without any distinctive demographic factors in the studied cohort. Sixty patients out of 250 were genotyped using Taqman assay and Sanger sequencing. The genotyping results were found to be concordant with KASP assay.
The G2019S mutation frequency in our cohort was similar to that reported in previous studies. Comparing to Taqman assay and Sanger sequencing, KASP was shown to be a reliable, time and cost effective genotyping assay for routine G2019S screening in genetic testing laboratories.
Background. The prevalence of psychiatric disturbance for patients with multiple sclerosis (MS) is higher than that observed in other chronic health conditions. We report three cases of MS and ...bipolar disorder and we discuss the possible etiological hypothesis and treatment options. Observations. All patients fulfilled the McDonald criteria for MS. Two patients were followed up in psychiatry for manic or depressive symptoms before developing MS. A third patient was diagnosed with MS and developed deferred psychotic symptoms. Some clinical and radiological features are highlighted in our patients: one manic episode induced by high dose corticosteroids and one case of a new orbitofrontal MRI lesion concomitant with the emergence of psychiatric symptoms. All patients needed antipsychotic treatment with almost good tolerance for high dose corticosteroids and interferon beta treatment. Conclusions. MRI lesions suggest the possible implication of local MS-related brain damage in development of pure “psychiatric fits” in MS. Genetic susceptibility is another hypothesis for this association. We have noticed that interferon beta treatments were well tolerated while high dose corticosteroids may induce manic fits.
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