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BACKGROUND: The Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS) has become the gold standard for evaluating different domains in Parkinson's disease (PD), and it is commonly used in clinical practice, research, and clinical trials. OBJECTIVES: The objectives are to validate the Arabic-translated version of the MDS-UPDRS and to assess its factor structure compared with the English version. METHODS: The study was carried out in three phases: first, the English version of the MDS-UPDRS was translated into Arabic and subsequently back-translated into English by independent translation team; second, cognitive pretesting of selected items was performed; third, the Arabic version was tested in over 400 native Arabic-speaking PD patients. The psychometric properties of the translated version were analyzed using confirmatory factor analysis (CFA) as well as exploratory factor analysis (EFA). RESULTS: The factor structure of the Arabic version was consistent with that of the English version based on the high CFIs for all four parts of the MDS-UPDRS in the CFA (CFI ≥0.90), confirming its suitability for use in Arabic. CONCLUSIONS: The Arabic version of the MDS-UPDRS has good construct validity in Arabic-speaking patients with PD and has been thereby designated as an official MDS-UPDRS version. The data collection methodology among Arabic-speaking countries across two continents of Asia and Africa provides a roadmap for validating additional MDS rating scale initiatives and is strong evidence that underserved regions can be energically mobilized to promote efforts that apply to better clinical care, education, and research for PD. © 2022 International Parkinson and Movement Disorder Society.
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Doença de Parkinson , Análise Fatorial , Humanos , Testes de Estado Mental e Demência , Doença de Parkinson/diagnóstico , Doença de Parkinson/psicologia , Índice de Gravidade de Doença , Sociedades MédicasRESUMO
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-É4 carriers particularly in DLB. Memory disorders were also correlated to APOE-É4 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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Apolipoproteínas E/genética , Atrofia de Múltiplos Sistemas , Transtornos Parkinsonianos , Paralisia Supranuclear Progressiva , Apolipoproteína E4/genética , Humanos , Atrofia de Múltiplos Sistemas/diagnóstico , Atrofia de Múltiplos Sistemas/genética , Transtornos Parkinsonianos/diagnóstico , Transtornos Parkinsonianos/genética , Paralisia Supranuclear Progressiva/genéticaRESUMO
Few studies have reported abnormal ocular movements in cases of amyotrophic lateral sclerosis (ALS) and their link with other disease features. Our study aimed to describe and analyse eye movement abnormalities in ALS patients. Specifically, we set out to investigate the correlation between non-motor signs and oculomotor impairment in order to understand the pathogenesis of the disease. All ALS patients seen from 2018 to 2020 in the department of Neurology of Razi hospital underwent the recording of saccadic eye movements. Results were compared with healthy controls. Sixty-two patients were included. Altered saccadic eye movements (72.6%) correlated with tongue atrophy and bladder dysfunction. The most common finding was altered smooth pursuit (56.5%), which showed correlation with bladder dysfunction and altered frontal assessment battery (FAB) scores. Prolonged latencies of horizontal saccades (34%) correlated with sensory and extrapyramidal signs. Our study is the first to examine the characteristics of eye movements in a large African cohort of ALS patients and to show correlations with extra-motor clinical signs. Our findings showed extra-motor cortex dysfunction in ALS with greater frequency of eye movement abnormalities in comparison with previous studies. Altered horizontal pursuit, the core abnormality, confirmed the extension of the neurodegenerative process to the frontal and prefrontal cortices. Prolonged horizontal saccade latencies reflect mainly the involvement of the parietal eye field. Anti-saccadic abnormalities were the least common finding and showed, paradoxically, no link with executive dysfunction.
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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.
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Ageusia/etiologia , COVID-19/complicações , Cefaleia/etiologia , Mialgia/etiologia , Transtornos do Olfato/etiologia , Transtornos do Sono-Vigília/etiologia , Adulto , Idoso , Ageusia/epidemiologia , Ageusia/fisiopatologia , COVID-19/epidemiologia , Feminino , Cefaleia/epidemiologia , Cefaleia/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Mialgia/epidemiologia , Transtornos do Olfato/epidemiologia , Transtornos do Olfato/fisiopatologia , Estudos Retrospectivos , Transtornos do Sono-Vigília/epidemiologia , Tunísia/epidemiologia , Adulto JovemRESUMO
Genetic generalized epilepsies (GGE) (childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME) and epilepsy with generalized tonic-clonic seizures (GTCS)) are mainly determined by genetic factors. Since few mutations were identified in rare families with autosomal dominant GGE, a polygenic inheritance was suspected in most patients. Recent studies on large American or European cohorts of sporadic cases showed that susceptibility genes were numerous although their variants were rare, making their identification difficult. Here, we reported clinical and genetic characteristics of 30 Tunisian GGE families, including 71 GGE patients. The phenotype was close to that in sporadic cases. Nineteen pedigrees had a homogeneous type of GGE (JME-CAE-CGTS), and 11 combined these epileptic syndromes. Rare non-synonymous variants were selected in probands using a targeted panel of 30 candidate genes and their segregation was determined in families. Molecular studies incriminated different genes, mainly CACNA1H and MAST4. The segregation of at least two variants in different genes in some pedigrees was compatible with the hypothesis of an oligogenic inheritance, which was in accordance with the relatively low frequency of consanguineous probands. Since at least 2 susceptibility genes were likely shared by different populations, genetic factors involved in the majority of Tunisian GGE families remain to be discovered. Their identification should be easier in families with a homogeneous type of GGE, in which an intra-familial genetic homogeneity could be suspected.
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Canais de Cálcio Tipo T/genética , Epilepsia Generalizada/genética , Proteínas Associadas aos Microtúbulos/genética , Proteínas Serina-Treonina Quinases/genética , Adolescente , Adulto , Idade de Início , Criança , Estudos de Coortes , Consanguinidade , Epilepsia Generalizada/epidemiologia , Família , Feminino , Estudos de Associação Genética , Ligação Genética , Predisposição Genética para Doença , Humanos , Masculino , Herança Multifatorial , Linhagem , Tunísia/epidemiologia , Adulto JovemRESUMO
OBJECTIVES: The LRRK2-G2019S mutation is the most common cause of Parkinson's disease (PD) in North Africa. G2019S-PD has been described as similar to idiopathic with minor clinical differences. The aim of this study was to determine the G2019S-related phenotype and to investigate gender and gene dosage effects on clinical features of G2019S carriers. PATIENTS AND METHODS: The G2019S mutation was screened in 250 Tunisian patients with PD. Twenty-four patients carrying mutations in other PD genes were excluded. Logistic regression models were used to compare clinical features between the studied groups. RESULTS: G2019S carriers (107 cases) and non-carriers (119 cases) were similar in disease duration, levodopa doses, and gender and phenotype distributions. However, carriers had a younger age at examination, higher level of education, and were more likely to report family history of PD and to develop PD at earlier age (P = 0.017). Adjusted for age, sex, disease duration, levodopa-equivalent dose and educational level, MMSE scores remained significantly higher (adjust P = 0.019) and UPDRS-III scores were lower (adjust P = 0.012) in the G2019S carriers than non-carriers. Demographic characteristics of men and women with G2019S mutation were similar, but men had higher level of education, better cognition (adjust P-value for educational level = 0.042) and less tendency towards depression than females (adjust P = 0.046). Furthermore, PD phenotype did not differ between the homozygous and heterozygous G2019S carriers. CONCLUSION: In this study, G2019S carriers had a more benign phenotype than non-carriers. Cognitive impairment and depression were less common in G2019S male carriers compared with females. In addition, we found that LRRK2 gene dosage does not influence the severity of PD.
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Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina/genética , Doença de Parkinson/genética , Adulto , Idoso , Feminino , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Doença de Parkinson/fisiopatologia , FenótipoRESUMO
OBJECTIVE: Rare variants in the TREM2 gene have been reported to significantly increase the risk of Alzheimer's disease in Caucasian populations. Hitherto, this association was not studied in North African populations. In this work, we aimed to study the association between TREM2 exon 2 variants and the risk of late-onset Alzheimer's disease (LOAD) in a Tunisian population. SUBJECTS AND METHODS: We sequenced exon 2 of TREM2 in a Tunisian cohort of 172 LOAD patients and 158 control subjects. We used the Fisher exact test to compare the distribution of allelic frequencies between the two groups. RESULTS: We identified 4 previously reported nonsynonymous variants (p.Asp39Glu, p.Arg62His, p.Thr96Lys, and p.Val126Gly) and 1 novel synonymous variant (p.Gln109Gln), none of which was significantly associated with the risk of Alzheimer's disease. Moreover, the rare TREM2 variant (p.Arg47His), which was considered to be a risk factor for Alzheimer's disease in European descent populations, was not detected in our cohort. CONCLUSION: These findings do not support a major role for TREM2 in the pathogenesis of LOAD in the Tunisian population.
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Doença de Alzheimer/genética , Glicoproteínas de Membrana/genética , Receptores Imunológicos/genética , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Feminino , Predisposição Genética para Doença , Técnicas de Genotipagem , Humanos , Masculino , Fatores de Risco , Análise de Sequência , Tunísia , População BrancaRESUMO
BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
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Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina/genética , Doença de Parkinson/genética , Adulto , Idoso , Estudos de Coortes , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Taxa de Mutação , Reação em Cadeia da Polimerase , TunísiaRESUMO
INTRODUCTION: Atypical Parkinsonian Syndromes(APS) are challenging neurodegenerative disorders due to their heterogeneous phenotypic overlaps.So far,there are no validated biomarkers that can accurately predict disease progression,and survival studies were highly different and contradictory. AIM: To investigate clinical and molecular survival factors among Tunisian APS patients. METHODS: A retrospective study included Tunisian APS-patients.Using clinical and molecular parameters,survival was explored by Kaplan-Meier analysis. RESULTS: We included 409-APS patients divided into 166-DLB,112-PSP,81-MSA and 50-CBS.Survival rate was similar in synucleinopathies, while it differed in tauopathies,being shorter in PSP compared to CBS.Median survival in DLB was different according to gender(p = 0.0048),early parkinsonism and cognitive disorders. Among MSA, prognosis was worse in MSA-C-patients(p = 0.012) and those with stridor(p = 0.0049),oculomotor and neuropsychiatric disorders. For tauopathies, survival was shorter in PSP-RS(p = 0.027),cerebellar phenotype, those with tremor and swallowing problems at onset, early parkinsonism and memory impairment. For CBS,prognosis was worse in patients with tremor,swallowing and cognitive problems.Significant differences were noted in terms of survival across APS non-carriers of APOE-ε4(p < 0.001) as well APS patients carriers of MAPT-H1.PSP patients had lower survival rate according to MAPT haplotype carriage. Moreover, the number of copies had an influence as patients with H1/H2-MAPT profile had better prognosis than those with H1/H1. CONCLUSION: This study determined survival rates in APS subgroups,which were comparable across synucleinopathies but shorter in PSP and longer in CBS.It also characterized demographic,phenotypic,and genetic profiles identifying more aggressive forms within APS subgroups.These findings address clinical gaps,aiding counseling for patients and families and guiding clinical management.Furthermore,they could facilitate patient stratification in clinical trials where mortality is an outcome measure.
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Transtornos Parkinsonianos , Centros de Atenção Terciária , Humanos , Masculino , Feminino , Transtornos Parkinsonianos/genética , Transtornos Parkinsonianos/mortalidade , Transtornos Parkinsonianos/diagnóstico , Pessoa de Meia-Idade , Estudos Retrospectivos , Idoso , Tunísia/epidemiologia , Prognóstico , População do Norte da ÁfricaRESUMO
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 É4 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 É4 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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INTRODUCTION: The relationship between epilepsy and psychiatric disorders has been highlighted for a long time. Idiopathic epilepsy is known to have a benign course in most cases. However, the association of psychiatric disturbances could worsen the disease outcome. AIM: To study the frequency of psychiatric symptoms in patients with idiopathic epilepsy, and to assess the determinant factors in the patient group with these manifestations. METHODS: In one-year prospective study, consecutive patients diagnosed with idiopathic epilepsy were included. Those with a known psychiatric follow-up or with post ictal psychiatric disturbances were excluded. Psychiatric symptoms were evaluated with the Neurological Disorders Depression Inventory for Epilepsy, the Generalized Anxiety Disorder - 7 and the Neuropsychiatric Inventory Scale. Demographic and clinical data were collected and analyzed. RESULTS: Among 101 consecutive patients with idiopathic epilepsy, psychiatric symptoms were diagnosed in 61% of them. Anxiety (36.6%), psychotic features (21%) and depression (15.8 %) were the most commonly found psychiatric manifestations. Female gender (p < 10-3) and longer duration of epilepsy (p = 0.046) were significantly associated with occurrence of psychiatric disturbances. Patients under Carbamazepine and Valproic acid showed a lower frequency of depression (respectively p = 0.018 and p = 0.003). CONCLUSIONS: Occurrence of psychiatric disturbances was frequent in idiopathic epilepsy, with psychotic manifestations and anxiety being the most common of them. Female gender and long disease course were the main determining factors of psychiatric manifestations and should be considered in management of idiopathic epilepsy.
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Epilepsia , Humanos , Feminino , Estudos Prospectivos , Epilepsia/complicações , Epilepsia/diagnóstico , Epilepsia/epidemiologia , Transtornos de Ansiedade/complicações , Transtornos de Ansiedade/epidemiologia , Ansiedade/epidemiologia , Ansiedade/etiologiaRESUMO
OBJECTIVE: In Parkinson disease (PD), the selective C-O-methyltransferase (COMT) inhibitor entacapone prolongs the effect of levodopa on motor symptoms (ON time) by increasing its bioavailability. The COMT Val158Met polymorphism is equally distributed in PD patients and modulates COMT activity, which can be high (Val/Val, COMT(HH) ), intermediate (Val/Met, COMT(HL) ), or low (Met/Met, COMT(LL) ). The objective of this study was to determine the response to entacapone in COMT(HH) and COMT(LL) PD patients. METHODS: Thirty-three PD patients, homozygous for the COMT alleles COMT(HH) (n = 17) and COMT(LL) (n = 16), were randomized in a double-blind crossover trial consisting of 2 successive acute levodopa challenges associated with 200mg entacapone or placebo. The primary endpoint was the gain in the best ON time. Secondary endpoints were levodopa pharmacokinetics and COMT activity in red blood cells. RESULTS: The gain in the best ON time was higher in COMT(HH) than in COMT(LL) patients (39 ± 10 vs 9 ± 9 minutes, p = 0.04, interaction between treatment and genotype). Area under the concentration over time curve of levodopa increased more after entacapone in COMT(HH) than in COMT(LL) patients (+62 ± 6% vs +34 ± 8%, p = 0.01). COMT inhibition by entacapone was higher in COMT(HH) than in COMT(LL) patients (-0.54 ± 0.07 vs -0.31 ± 0.06 pmol/min/mg protein, p = 0.02). INTERPRETATION: The COMT(HH) genotype in PD patients enhances the effect of entacapone on the pharmacodynamics and pharmacokinetics of levodopa. The response to entacapone after repeated administrations and in heterozygous patients remains to be determined.
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Antiparkinsonianos/uso terapêutico , Catecol O-Metiltransferase/genética , Catecóis/uso terapêutico , Nitrilas/uso terapêutico , Doença de Parkinson/tratamento farmacológico , Polimorfismo Genético , Idoso , Antiparkinsonianos/farmacocinética , Disponibilidade Biológica , Inibidores de Catecol O-Metiltransferase , Catecóis/farmacocinética , Estudos Cross-Over , Método Duplo-Cego , Inibidores Enzimáticos/uso terapêutico , Feminino , Genótipo , Humanos , Levodopa/metabolismo , Levodopa/farmacocinética , Levodopa/uso terapêutico , Masculino , Metionina/genética , Pessoa de Meia-Idade , Nitrilas/farmacocinética , Doença de Parkinson/genética , Farmacogenética , Valina/genéticaRESUMO
Hot water epilepsy (HWE) refers to a specific type of reflex epilepsy precipitated by the stimulus of bathing in hot water. Pathogenesis is still unknown and temporal lobe has been thought to take part in the epileptogenesis. HWE can be symptomatic of focal cortical malformation, and few cases were reported. This is the third report of HEW in which a parietal malformation has been observed. Our hypothesis that sensory cortex might be implicated in the epileptogenic process is corroborated by two previous reports on patients with HWE and malformation of the parietal cortical development.
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Epilepsia Reflexa/complicações , Epilepsia Reflexa/etiologia , Temperatura Alta/efeitos adversos , Lisencefalia/complicações , Água , Adolescente , Córtex Cerebral/patologia , Feminino , Humanos , Imageamento por Ressonância MagnéticaRESUMO
The clinical syndrome of pure akinesia (PA) is considered the third phenotype of progressive supranuclear palsy (PSP), and is characterized by freezing of gait and prominent speech disturbance without rigidity or tremor. It is frequently considered one of the dopamine resistant motor syndromes, and its pathophysiology remains unclear. We report a patient followed in the Department of Neurology of Razi Hospital, Tunisia, with PA with gait freezing (PAGF) with a frontal hypoperfusion on single photon emission CT and non-responsive dopa therapy. We discuss the clinical features of PAGF and efficiency of treatment options.
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Apraxia da Marcha/diagnóstico por imagem , Paralisia Supranuclear Progressiva/diagnóstico por imagem , Tomografia Computadorizada de Emissão de Fóton Único , Diagnóstico Diferencial , Dopaminérgicos/uso terapêutico , Apraxia da Marcha/tratamento farmacológico , Apraxia da Marcha/reabilitação , Humanos , Levodopa/uso terapêutico , Masculino , Pessoa de Meia-Idade , Marrocos , Distúrbios da Fala/etiologia , Paralisia Supranuclear Progressiva/tratamento farmacológico , Paralisia Supranuclear Progressiva/reabilitaçãoRESUMO
Unverricht-Lundborg disease (ULD), also called progressive myoclonic epilepsy type 1, is usually characterized by the presence of ataxia associated with myoclonus and epileptic seizures without progressive cognitive deficit, presenting during late childhood and early adolescence. Currently, there is a growing body of evidence for atypical presentations of the disease with a milder phenotype or without the full symptomatology. We describe a case report of a late-onset phenotype with progressive myoclonus-ataxia syndrome accompanied by initial recurrent falls, resulting in specific phobia and agoraphobia starting at the age of 50 years old. The examination revealed multifocal myoclonus with cerebellar ataxia and electroencephalogram showed generalized polyspikes and spike-wave discharges. Electromyogram revealed positive myoclonus of 60-ms duration in the face and the presence of C reflex. A genetic study confirmed the diagnosis of ULD in the patient and other additional family members, presenting a wide range of intra-familial variability. We discuss the challenging differential diagnosis for such a misleading presentation and its possible underlying pathophysiological mechanisms. Our case report may contribute to broadening the age and clinical boundaries for this disease and emphasizes the intra-familial age and symptom variability. Based on a suggestive family history, the diagnosis of ULD should be considered in this context, even in older patients.
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Síndrome de Unverricht-Lundborg , Ataxia/etiologia , Eletroencefalografia , Humanos , Anamnese , Pessoa de Meia-Idade , Mioclonia/etiologia , Síndrome de Unverricht-Lundborg/diagnóstico , Síndrome de Unverricht-Lundborg/genéticaRESUMO
We describe a Tunisian family carrier of the same rare mutation in TARDBP but developing different neurodegenerative disease with heterogenous features. We explored the possible genetic modifiers leading to the observed intrafamilial phenotypic variability. Genetic analysis identified TARDBP p.G294A mutation among4 members. Additionally, the ALS case was muted in GBA. While the three cases of AD were carriers of PRKN and GBA mutations. Finally, the FTD-parkinsonism patient was mutated for LRRK2 p.G2019S that might increase his susceptibility to develop Parkinsonism spectrum. Genetic variants of TARDBP may influence the clinical manifestation in ALS case.
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Esclerose Lateral Amiotrófica , Doenças Neurodegenerativas , Transtornos Parkinsonianos , Humanos , Esclerose Lateral Amiotrófica/genética , Variação Biológica da População , Mutação/genética , Transtornos Parkinsonianos/genética , FenótipoRESUMO
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 ¼. 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.
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Neurilemoma , Oftalmoplegia , Enxaqueca Oftalmoplégica , Síndrome de Tolosa-Hunt , Adolescente , Feminino , Humanos , Imageamento por Ressonância Magnética , Neurilemoma/complicações , Neurilemoma/diagnóstico , Nervo Oculomotor , Oftalmoplegia/diagnóstico , Oftalmoplegia/etiologia , Enxaqueca Oftalmoplégica/complicações , Enxaqueca Oftalmoplégica/diagnóstico , Síndrome de Tolosa-Hunt/complicações , Síndrome de Tolosa-Hunt/diagnósticoRESUMO
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.