Etude descriptive des mouvements anormaux en neurologie en milieu hospitalier universitaire au nord du Bénin / Descriptive study of the movement disorders in neurology department at the university hospital in northern Benin

Introduction : Il n'y a aucune donnée publiée sur les mouvements anormaux (MA) au Bénin. Objectif : Etudier la fréquence, les caractéristiques cliniques et évolutifs des MA au CHUD-B/A au nord-Bénin en 2020. Matériel et méthodes : Il s'agissait d'une étude transversale descriptive avec collecte de données sur 5 ans (1er juillet 2015 - 30 juin 2020) en neurologie au CHUD/B à Parakou au Nord-Bénin. Le diagnostic et la classification des MA a été fait par un neurologue selon les critères cliniques du Consensus Statement of International Parkinson and Movements Disorders Society (MDS), et les critères révisés de Jinnah 2014 pour la dystonie. Les autres mouvements hyperkinétiques sont retenus selon les critères de Reich 2010 et les critères de Allen 2003 pour le syndrome des jambes sans repos (SJSR). Résultats : 2250 patients ont été inclus. L'âge moyen des patients MA au diagnostic était de 52,57 ± 20,77ans [1-80ans]. L'âge moyen au début des symptômes était de 49,16 ± 20,85ans [1-80ans]. Le sex-ratio était de 2,58. La fréquence des MA dans le service était de 5,73% (129/2250) et 6,68% (117/1805) en consultation ambulatoire. Les MA identifiés étaient : tremblement (72,09%), akinésie-parkinsonisme (41,08%), dystonie (7,75%), chorée (6,2%), myoclonie (3,1%), dyskinésie (2,33%), ballisme (2,33%), athétose (0,78%), akathisie (0,78%) et le SJSR (0,78%). Le parkinsonisme représentait 2,36% (53cas). Les causes des MA étaient dégénératives (27,91%), idiopathiques (27,13%), vasculaires (13,95%), iatrogènes (11,63%). Le tremblement essentiel 57,14% (28cas) touchait surtout les sujets entre 25-60 ans et n'était pas associé à l'âge (p=0,795) ni aux antécédents familiaux (p=0,417). L'évolution des MA était marquée par leur amélioration partielle 33%, une rémission complète 10,85%, le décès 7,75%. Conclusion : Les MA sont fréquents en Neurologie au CHUD/B-A. Une prise en charge optimale est nécessaire pour améliorer la qualité de vie des patients.

Introduction: There are no published data on movement disorders in Benin. Objective: We aimed to study the descriptive epidemiology, the clinical spectrums and the evolution of MD in the university hospital center of Parakou (CHUD-B/A) in northern Benin in 2020. Material and methods: It was a descriptive cross-sectional study with data collection over 5 years from 07/01/2015 to 06/30/2020 in the neurology department of CHUD-B/A. Diagnosis and classifications of MD was made by a neurologist according to clinical criteria of the Consensus Statement of International Parkinson and Movements Disorders Society (MDS), Jinnah 2014 revised criteria for dystonia, Reich 2010 for other hyperkinetic MD and Allen 2003 criteria for restless legs syndrome (RLS). Statistical analysis was made by Epidata Analysis software. Results: 2250 patients were included. The mean age of patients with MD at diagnosis was 52.57 ± 20.77years with extremes of 1 to 80 years. The mean age at onset of symptoms was 49.16 ± 20.85years [1-80years]. The sex ratio was 2.58. The frequency of MD in the department was 5.73% (129/2250) and 6.68% (117/1805) in outpatients. The MD identified were: tremor 72.09%, akinesia and parkinsonism 41.08%, dystonia 7.75%, chorea 6.2%, myoclonus 3.1%, dyskinesia 2.33%, ballism 2.33%, athetosis 0.78%, akathisia 0.78% and RLS 0.78%. Parkinsonism accounted for 2.36% (53cases). The causes of MD were degenerative (27.91%), idiopathic (27.13%), vascular (13.95%), iatrogenic (11.63%). Essential tremor (28cases) affected patients between 25-60years (57.14%). Evolution was marked by partial improvement (33%), complete remission (10.85%), and death (7.75%). Conclusion: MD are common at CHUD-B/A. Optimal management is necessary to improve the quality of life of patients.

Disfunción urinaria en la enfermedad de Parkinson: una revisión práctica / Urinary dysfunction in Parkinson's disease: a practical review

Resumen La enfermedad de Parkinson (EP) es una enfermedad multisistémica de naturaleza neurodegenerativa, que clínicamente se caracteriza por presencia de síntomas motores como bradicinesia, rigidez, temblor en reposo e inestabilidad postural. Sin embargo, también pueden estar presentes síntomas no motores que constituyen trastornos del ánimo, trastornos del sueño, disfunción cognitiva o disfunción autonómica. Dentro de las disfunciones autonómicas, los síntomas urinarios se han documentado en los pacientes con enfermedad de Parkinson. Los síntomas urinarios más comunes son la nicturia, urgencia urinaria, aumento de la frecuencia miccional e incontinencia de urgencia. El presente artículo hace una revisión narrativa de la literatura actual sobre los mecanismos fisiopatológicos, manifestaciones clínicas, diagnóstico y tratamiento de la disfunción urinaria en pacientes con enfermedad de Parkinson.

Parkinson's disease (PD) is a neurodegenerative multisystemic diseases, which is clinically characterized by the presence of motor symptoms such as bradykinesia, rigidity, resting tremor, and postural instability. However, non-motor symptoms constituting mood disorders, sleep disorders, cognitive dysfunction, or autonomic dysfunction may also be present. Within autonomic dysfunctions, urinary symptoms have been documented in patients with Parkinson's disease. The most common urinary symptoms are nocturia, urinary urgency, increased urinary frequency, and urge incontinence. This article makes a narrative review of the current literature on the pathophysiological mechanisms, clinical manifestations, diagnosis and treatment of urinary dysfunction in patients with Parkinson's disease.

Progress of reversible parkinsonism / 中华神经科杂志

Parkinsonism is a clinical syndrome caused by many reasons, mainly manifested as bradykinesia, stiffness, static tremor and postural instability. Common disease development patterns include occult onset, gradual development, and little natural remission. However, clinically there are some Parkinsonism that will improve, naturally alleviate or "cure", called reversible parkinsonism (RP). By searching the relevant literature, RP was classified into 12 different types: drugs induced, poisoning induced, infection induced, intracranial vascular induced, structural encephalopathy related, changes in intracranial pressure related, imbalance of internal environment induced, visceral diseases related, alcohol withdrawal related, surgery related, immunization and radiotherapy induced RP. This article aims to provide clinicians with more ideas for the clinical diagnosis and treatment of parkinsonism, so as to promote clinicians to make reasonable identification and diagnosis and treatment of parkinsonism as soon as possible.

Unilateral transcranial magnetic resonance-guided focused ultrasound Pallidothalamic Tractotomy in X-linked Dystonia-Parkinsonism: A case report

@#X-linked dystonia-parkinsonism (XDP) is an adult-onset debilitating neurodegenerative disorder presenting with motor and nonmotor symptoms. The treatment options for XDP are limited. We described a patient with XDP who underwent a unilateral transcranial magnetic resonance-guided focused ultrasound (tcMRgFUS) pallidothalamic tractotomy with a one-year follow-up. The patient reported an immediate improvement in his pain after the procedure. Compared to baseline, there was an improvement in his scores in the dystonia (31%), parkinsonism (35.1%), and activities of daily living (71%) subscales at 1-year follow up. The overall improvement at one year was 46%. There were no adverse events noted. Additional studies with larger sample size and follow-up would be needed to document its long-term safety and efficacy.

Descriptive epidemiological study on patients with movement disorders, with emphasis on Parkinson's disease

ABSTRACT BACKGROUND: Knowing the epidemiological profile is relevant for improving healthcare practices. Movement disorders are neurological disorders characterized by the presence of involuntary movements. They have a negative impact on patients' quality of life. OBJECTIVES: To outline the frequencies of the different diagnoses seen among patients, along with their demographic characteristics, at a hospital in São Paulo (SP), Brazil, and to highlight the clinical aspects of those with Parkinson's disease. DESIGN AND SETTING: Retrospective descriptive epidemiological analysis at a specialized outpatient clinic in a state public hospital in São Paulo. METHODS: Patients treated at this clinic over a four-year period were analyzed. Diagnoses, demographic variables and associations with clinical aspects of Parkinson's disease were evaluated. RESULTS: Out of the 680 medical records analyzed, 58.4% related to females. Most patients were over 60 years of age, white, married and teachers. The most frequent diagnosis was Parkinson's disease, followed by essential tremor and dystonia. Parkinson's disease presented in the mixed clinical form; the most common initial symptom was tremor. The akinetic-rigid clinical form occurred in younger individuals and mostly presented with postural instability and freezing of gait in the early years of disease. CONCLUSIONS: Parkinson's disease, essential tremor and dystonia were the most frequent diagnoses. Characteristics like sex, frequency of other pathological conditions and the clinical and demographic aspects of Parkinson's disease were consistent with the data in the relevant literature.

Advances in the TAF1 gene / 中华神经科杂志

TAF1 gene encodes TATA-box binding protein-associated factor-1, which serves as a scaffold for the assembly of the transcription factor ⅡD and participates in the transcription of many genes in eukaryotic cells. Human TAF1 possesses intrinsic protein kinase activity, histone acetyltransferase activity as well as ubiquitin-activating and conjugating activity, and these activities have been mapped to different domains. Currently, TAF1 has been identified as the causative gene of X-linked dystonia-parkinsonism and X-linked mental retardation. What′s more, a series of functional analysis have demonstrated the importance of TAF1 gene in cell cycle and cell growth, and its relationship with neurodevelopment and tumorigenesis has also been reported. This review summarizes the research progress of TAF1 including structure, phenotypes and biological function.

Research progress of neurofilament light chain in the parkinsonism / 中华神经科杂志

Neurofilament light chain (NfL), a sensitive biomarker of axonal damage, was found increasing in several neurological diseases. Parkinsonism is a group of clinical syndromes characterized by cardinal symptoms of bradykinesia, rigidity, and tremor, including Parkinson′s disease (PD) and parkinsonism plus syndrome (PPS). It is difficult in the diagnosis and differential diagnosis of PD and PPS, especially in the early stage. Evidence suggests that NfL in the cerebrospinal fluid and blood is a promising biomarker for the differential diagnosis of PD and PPS. This article reviewed and summarized the research progress of value of NfL in PD and PPS, and proposed future research directions.

Vascular parkinsonism revisiting / 中华神经科杂志

Vascular parkinsonism (VP) is a parkinsonism syndrome secondary to cerebrovascular damage. At present, domestic clinicians lack of understanding and pay little attention to it. This article briefly summarizes the epidemiology, etiology and pathogenesis, clinical manifestations, auxiliary examination, diagnosis and differential diagnosis, treatment and prevention of VP, for providing references to clinicians and specialists.

Clinical and radiological features of fahr’s disease: a mimicker of varied neurological manifestations

Fahr’s disease is a disorder characterized clinically by a wide spectrum of varied clinical-neurological and psychiatric manifestations occurring secondary to intracranial calcifications with subsequent neuronal cell loss. Though the disease can present in early childhood or adolescence the usual age of manifestation is around 4th-5th decades of life. We report a series of 6 Fahr’s disease cases with respect to different clinical and radiological manifestations. The details of different clinical manifestations with respect to the disease were studied. The frequency of symptoms, the radiological pattern of intracranial calcifications and the association of different parameters were studied.  Progressive cognitive decline and Parkinsonism was detected in all the patients but in none of them it was the chief presenting feature. Seizure was presenting symptoms in 3 patients. Chorea was encountered in 2 patients as the presenting complaint. Mild wide-based cerebellar ataxic gait was found in only one patient but other cerebellar signs were absent. Athetosis, dyskinesia, or dystonia was present in none of our patient. CT scan revealed symmetric basal nuclei and cerebellar calcification in all patients. The disease needs a high index of suspicion and CT brain scanning should always be performed in patients younger than 50 years who present with refractory seizures, Parkinsonism and cognitive decline. However radiological findings did not predict the presentation and outcome.

Anesthetic management in bilateral deep brain stimulation for X-linked Dystonia Parkinsonism: Early single institution experience from the Philippines

@#X-linked dystonia-parkinsonism (XDP) is a rare, adult-onset, progressive, hereditary neurological movement disorder primarily affecting Filipino men with maternal families from Panay province of the Philippines. Medical treatment modalities currently being used have offered temporary symptomatic relief. Surgical management in the form of bilateral globus pallidi internae (Gpi) deep brain stimulation (DBS) has shown promising results and is increasingly being performed in advanced centers, as reported in international literature. Presented herein is the local experience of seven (7) retrospectively reviewed cases from February 2018 to February 2019 in a tertiary center in the Philippines with a particular focus on anesthetic management. All patients were male, from Panay, and presented with progressive dystonia and parkinsonism. All patients underwent planned bilateral, simultaneous DBS electrode, and implantable pulse generator (IPG) placement performed by a multidisciplinary team. Anesthetic management consisted of Bispectral Index (BIS) guided conscious sedation with low dose propofol and remifentanil infusions with a complete scalp nerve block (SB) at the start of the procedure then shifted to awake monitored anesthesia care during electrode placement, microelectrode recording (MER) and macro stimulation testing. All were put under general anesthesia with a supraglottic airway device during the placement of the internal pulse generator (IPG) in the infraclavicular area. All seven patients had successful localization, and insertion of the DBS electrode and discharged improved. The anesthetic management of the DBS used in these cases warrants further investigation and may lead to standardization of future practice.

Ataxina-2, nuevo blanco en enfermedades genéticas complejas / Ataxin-2, a new target in complex genetic diseases

Resumen El gen de la ataxina-2 es un blanco en la patogénesis de enfermedades complejas, entre ellas los factores de riesgo cardiovascular y enfermedades neurodegenerativas. El gen ATXN2 tiene un VNTR en el exón 1, cuya expansión por encima de las 30 repeticiones provoca al desarrollo de ataxia espinocerebelosa tipo 2; las repeticiones en rango menor se asocian con diabetes tipo 2 o esclerosis lateral amiotrófica. También este locus está ligado con fenotipos metabólicos e inflamatorios. En conclusión, el gen puede ser utilizado como marcador clínico de fenotipos metabólicos y neurológicos, lo cual está relacionado con su efecto pleiotrópico.

Abstract The ataxin 2 gene is a target in the pathogenesis of complex diseases, including cardiovascular risk factors and neurodegenerative diseases. ATXN2 gen has VNTR in exon 1, whose expansion exceeding 30 repetitions leads to the development of spinocerebellar ataxia type 2; lower-range repetitions are associated with type 2 diabetes or amyotrophic lateral sclerosis. This locus is also linked with metabolic and inflammatory phenotypes. In conclusion, this gene can be used as a clinical marker of metabolic and neurological phenotypes, which is related to its pleiotropic effect.

Reduced Uptake on Dopamine Transporter Imaging by Methylphenidate

No abstract available.

Oro-Pharyngeal Dysphagia in Parkinson's Disease and Related Movement Disorders

Oro-pharyngeal dysphagia is a common symptom in patients with Parkinson's disease (PD) and related disorders, even in their early stage of diseases. Dysphagia in these patients has been underdiagnosed, probably due to poor the self-awareness of the conditions and the underuse of validated tools and objective instruments for assessment. The early detection and intervention of dysphagia are closely related to improving the quality of life and decreasing the mortality rate in these patients. The purpose of this paper is to give an overview of the characteristics of dysphagia, including the epidemiology, pathophysiology, and clinical symptomatology, in patients with PD compared with other parkinsonian disorders and movement disorders. The management of dysphagia and future research directions related to these disorders are also discussed.

Abnormal Eye Movements in Parkinsonism and Movement Disorders

Abnormal eye movements are commonly observed in movement disorders. Ocular motility examination should include bedside evaluation and laboratory recording of ocular misalignment, involuntary eye movements, including nystagmus and saccadic intrusions/oscillations, triggered nystagmus, saccades, smooth pursuit (SP), and the vestibulo-ocular reflex. Patients with Parkinson's disease (PD) mostly show hypometric saccades, especially for the self-paced saccades, and impaired SP. Early vertical saccadic palsy is characteristic of progressive supranuclear palsy-Richardson's syndrome. Patients with cortico-basal syndrome typically show a delayed onset of saccades. Downbeat and gaze-evoked nystagmus and hypermetric saccades are characteristic ocular motor findings in ataxic disorders due to cerebellar dysfunction. In this review, we discuss various ocular motor findings in movement disorders, including PD and related disorders, ataxic syndromes, and hyperkinetic movement disorders. Systemic evaluation of the ocular motor functions may provide valuable information for early detection and monitoring of movement disorders, despite an overlap in the abnormal eye movements among different movement disorders.

Pseudobulbar Affect in Parkinsonian Disorders: A Review

Pseudobulbar affect (PBA) is a neurological symptom of inappropriate and uncontrollable laughter or crying that occurs secondary to a variety of neurological conditions, including parkinsonian disorders. PBA is a socially and emotionally debilitating symptom that has been estimated to affect 3.6% to 42.5% of the population with Parkinson’s disease. While indexing measures and treatment options for PBA have been extensively studied in neurological conditions such as amyotrophic lateral sclerosis and multiple sclerosis, there has been considerably less attention given in the literature to PBA in parkinsonian disorders. The purpose of this review is to discuss the pathophysiology of PBA, its prevalence and impact on quality of life in parkinsonian disorders, and the treatment options currently available. Areas requiring further study, including the development of standardized, cross-culturally validated methods of symptom assessment, and evidence-based studies exploring the efficacy of current treatment options in parkinsonian disorders, are also highlighted.

Spatiotemporal Gait Parameter Comparison for Parkinson's Disease, Multiple System Atrophy, and Other Parkinsonism Diseases

The aim of this study was to compare and quantify the spatiotemporal and gait parameters obtained by foot pressure analysis during the gait in a group of Parkinson's disease (PD) patients compared with other Parkinsonism diseases, especially multiple system atrophy (MSA). Thirty-seven out of ninety-three patients who visited the center of neurology or rehabilitation with features of Parkinsonism were recruited. Spatiotemporal gait parameters were collected using gait analysis system. The results did not differ in terms of the stride length, step width, double stance phase, stride time, cadence, velocity, gait line and single support line differences, anterior-posterior position of center of pressure, and maximal gait line velocity; the lateral symmetry showed a significant difference between the PD and the MSA groups (p < 0.05). The study evaluated the differences in terms of spatiotemporal parameters between the PD and MSA along with other Parkinsonism diseases; it showed that the PD patients had a gait tendency to deviate laterally compared to the MSA patients. The result suggests conducting the gait foot pressure analysis might help distinguish PD from other Parkinsonism diseases in early stage, aiding the early decision for the treatment plans.

Trends in the Prevalence of Drug-Induced Parkinsonism in Korea

PURPOSE: Discontinuation of offending drugs can prevent drug-induced parkinsonism (DIP) before it occurs and reverse or cure it afterwards. The aim of this study was to investigate the prevalence of DIP and the utilization of offending drugs through an analysis of representative nationwide claims data. MATERIALS AND METHODS: We selected DIP patients of ages ranging from 40 to 100 years old with the G21.1 code from the Korean National Service Health Insurance Claims database from 2009 to 2015. The annual standardized prevalence of DIP was explored from 2009 to 2015. Trends were estimated using the compound annual growth rate (CAGR) and the Cochran-Armitage test for DIP over the course of 6 years. Additionally, the utilization of offending drugs was analyzed. RESULTS: The annual prevalence of DIP was 4.09 per 100000 people in 2009 and 7.02 in 2015 (CAGR: 9.42%, p<0.001). Levosulpiride use before and after DIP diagnosis showed a clear trend for decreasing utilization (CAGR: −5.4%, −4.3% respectively), whereas the CAGR for itopride and metoclopramide increased by 12.7% and 6.4%, respectively. In 2015, approximately 46.6% (858/1840 persons) of DIP patients were prescribed offending drugs after DIP diagnosis. The most commonly prescribed causative drug after DIP diagnosis was levosulpiride. CONCLUSION: The prevalence of DIP has increased. To prevent or decrease DIP, we suggest that physicians reduce prescriptions of benzamide derivatives that have been most commonly used, and that attempts be made to find other alternative drugs. Additionally, the need for continuing education about offending drugs should be emphasized.

Urodynamic Mechanisms Underlying Overactive Bladder Symptoms in Patients With Parkinson Disease / 대한배뇨장애요실금학회지

PURPOSE: To assess the urodynamic findings in patients with Parkinson disease (PD) with overactive bladder symptoms. METHODS: We performed a retrospective chart review of all PD patients who were seen in an outpatient clinic for lower urinary tract symptoms (LUTS) between 2010 and 2017 in a single-institution. Only patients who complained of overactive bladder (OAB) symptoms and underwent a video-urodynamic study for these symptoms were included. We excluded patients with neurological disorders other than PD and patients with voiding LUTS but without OAB symptoms. RESULTS: We included 42 patients (29 men, 13 women, 74.5±8.1 years old). Seven patients (16.7%) had a postvoid residual (PVR) bladder volume >100 mL and only one reported incomplete bladder emptying. Detrusor overactivity (DO) was found in all 42 patients (100%) and was terminal in 19 (45.2%) and phasic in 22 patients (52.4%). Eighteen patients had detrusor underactivity (DU) (42.3%). Later age of PD diagnosis was the only parameter associated with DU (P=0.02). Patients with bladder outlet obstruction (BOO) were younger than patients without BOO (70.1 years vs. 76.5 years, P=0.004), had later first sensation of bladder filling (173.5 mL vs. 120.3 mL, P=0.02) and first involuntary detrusor contraction (226.4 mL vs. 130.4 mL, P=0.009). CONCLUSIONS: DO is almost universal in all patients with PD complaining of OAB symptoms (97.1%). However, a significant percentage of patients also had BOO (36.8%), DU (47%), and increased PVR (16.7%) indicating that neurogenic DO may not be the only cause of OAB symptoms in PD patients.

Research progress of non-motor and extracerebellar symptoms in spinocerebellar ataxia type 2 / 中华神经科杂志

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant degenerative disease. The main clinical manifestation of SCA2 is progressive cerebellar syndrome, but a wide range of extracerebellar and non-motor symptoms can be observed clinically. The non-motor symptoms and extra-cerebellar signs in SCA2 patients are reviewed to provide a better understanding in cognition, diagnosis and treatment of the disease.

Dramatic unilateral decrease in uptake via the dopamine transporter: Imaging in a patient with hemiparkinsonism following the lacunar stroke in substantia nigra

@#Vascular parkinsonism (VaP) is typically defined as having predominant lower body involvement, postural instability, less prominent rest tremor and little or no response to treatment with levodopa. In this study, we report a patient with VaP with clear demonstration of a dramatic unilateral decrease of radiotracer uptake in a 18F-FP-CIT-PET study. A 62-year-old right-handed woman was referred to the neurology department due to rest tremor and rigidity in the right hand, which began after undergoing resection surgery for a left acoustic neuroma 7 years prior. Brain MRI, taken at 1 year after surgery showed an ischemic stroke lesion in the left medial pons and the left substantia nigra. 18F-FP-CIT-PET revealed a marked reduction of radiotracer uptake in left striatum compared to that of the right. We treated the patient with 100 mg of levodopa, 200 mg of entacarpone and 25 mg of carbidopa. There was an improvement in bradykinesia and tremor, but the symptoms persisted, and there was no deterioration during 6 months of observation. After acoustic neuroma surgery, ischemic complications are uncommon, and even a small lesion in the nigrostriatal pathway can cause a hemiparkinsonism. If a patient experience sudden onset hemiparkinsonism, they should be carefully examined for lesions in the nigrostriatal pathways. Under these conditions, the 18F-FP-CIT-PET scan can enable visualization of a unilateral decrease and is a useful tool for diagnosis and differentiation from idiopathic Parkinson’s disease