Lasuna rasayana in management of parkinsonism-a case report

Parkinsonism is a disease with insidious onset and slow progression. It is one of the most common extrapyramidal disorders seen in clinical practice. Parkinsonism can be correlated with Kampavata in Ayurveda based on similar symptomatology. This case presents an intriguing scenario of Parkinsonism, with the patient having undergone allopathic medication for the last two years. Additionally, Ayurvedic treatments and Rasayana therapy have been introduced as complementary measures. The patient underwent Avaranagna and Vatavyadi chikitsa, incorporating practices such as Agni deepanam, Amapachanam, Snehana svedanam, Shodanam, and Rasayana chikitsa for a holistic therapeutic approach. Patients assessment was conducted using modified Hoehn and Yahr scale, Schwab and England ADL scale, Parkinson抯 disease composite scale and PDQ 39 scale on the 0th day and 42th day. Quality of life scale PDQ-39 SI score was improved from 53.25 pre-treatment to 35.79 post treatment. Following 42 days of treatment incorporated with ayurvedic treatment procedures, coupled with Rasayana therapy, demonstrated a notable amelioration of symptoms, a reduction in disability, and an enhancement in the overall quality of life.

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.

Treatment of Parkinson's disease by deep brain stimulation: a bibliometric analysis

ABSTRACT BACKGROUND: For more than 30 years, deep brain stimulation (DBS) has been a therapeutic tool for Parkinson's disease (PD) treatment. DBS can ameliorate several motor and non-motor symptoms and improve the patients' quality of life. OBJECTIVES: To analyze the global scientific production of original and review articles on Parkinson's disease treatment using deep brain stimulation. DESIGN AND SETTING: Descriptive, bibliometric study with a quantitative approach. METHOD: The research protocol was conducted in March 2023 using the Web of Science database. Six hundred eighty-four articles were included in the analysis. Data were imported into RStudio Desktop Software, linked to R Software. The Bibliometrix R package, its Biblioshiny web interface, and VOSviewer software were used for the analysis. RESULTS: The international production began in 1998. Movement Disorders is the journal with the largest number of published articles and the most cited. Michael Okun and Andres Lozano are the authors who produced the most in this area. The University of Florida is the most active affiliated institution in Brazil. The United States has the largest number of collaborations and is mainly published by local researchers. In contrast, countries such as the United Kingdom and Canada have a high number of multi-country publications. The 15 most cited studies predominantly investigated subthalamic nucleus stimulation. CONCLUSION: DBS for Parkinson's disease is a relatively novel therapeutic approach, with studies that have expanded over the last twenty-five years. Most scientific production was quantitative and restricted to specialized journals. The United States, Europe, and China held the most articles.

The clinical diagnosis of Parkinson's disease / O diagnóstico clínico da doença de Parkinson

Abstract After more than 200 years since its initial description, the clinical diagnosis of Parkinson's disease (PD) remains an often-challenging endeavor, with broad implications that are fundamental for clinical management. Despite major developments in understanding it's pathogenesis, pathological landmarks, non-motor features and potential paraclinical clues, the most accepted diagnostic criteria remain solidly based on a combination of clinical signs. Here, we review this process, discussing its history, clinical criteria, differential diagnoses, ancillary diagnostic testing, and the role of non-motor and pre-motor signs and symptoms.

Resumo Passados mais de 200 anos desde a sua descrição inicial, o diagnóstico clínico da doença de Parkinson (DP) continua a ser um processo muitas vezes desafiante, com amplas implicações que são fundamentais para o manejo clínico. Apesar dos grandes desenvolvimentos na compreensão da sua patogénese, marcadores patológicos, características não motoras e potenciais pistas paraclínicas, os critérios diagnósticos mais aceitos permanecem solidamente baseados numa combinação de sinais clínicos motores. Aqui, revisamos esse processo, discutindo sua história, critérios clínicos, diagnósticos diferenciais, testes diagnósticos complementares e o papel dos sinais e sintomas não motores e pré-motores.

Enteric fever resembling Malawi-Mozambique outbreak

A 47-year-old male with no known co-morbidities presented with hematochezia and multiple episodes of vomiting. He had a history of high-grade fever with chills, rigor, vomiting, and abdominal pain 3 weeks ago, for which he was treated with 5 days of IV antibiotics in another hospital. Examination revealed tremor, rigidity, hyperreflexia, bradykinesia, and hypophonic monotonous speech. Colonoscopy showed ileocolonic ulcers. Widal came positive. Treated as a case of Enteric fever with neurological complications such as parkinsonism, UMN signs, and gastrointestinal bleeding secondary to an ileal ulcer.

Progress of clinical research on nonmotor symptoms of Parkinson's disease / 中华老年医学杂志

Parkinsonism plus syndromes encompass multiple system atrophy, progressive supranuclear palsy, dementia with Lewy bodies, and corticobasal degeneration.Non-motor symptoms, such as cognitive dysfunction, autonomic dysfunction, respiratory system symptoms, sleep disorders, and psychiatric symptoms, play a crucial role in the clinical manifestations of Parkinsonism plus syndrome.Every Parkinsonism plus syndrome exhibits unique characteristics.This review focuses on the disease features of the clinical manifestations of Parkinson's superimposed syndrome.

PLA2G6-related parkinsonism:clinical and genetic characteristics of 6 cases and literature review / 中华神经科杂志

Objective:To elucidate the clinical and genetic characteristics of PLA2G6-related parkinsonism. Methods:The clinical, imaging and genetic data of 6 patients with PLA2G6-related parkinsonism admitted to Peking Union Medical College Hospital from January 2015 to December 2022 were retrospectively collected and analyzed. The prognosis was followed up through phone call. Results:There were 3 male and 3 female patients, and the age of disease onset was (24.3±5.4) years. Phenotypically, 5 of them had dystonia-parkinsonism (DP) with obvious atrophy of cerebellum and 1 presented as early-onset Parkinson′s disease (EOPD) with no brain structural abnormality. Only 1 patient presented with abnormal brain iron deposition. All of the patients were partially responsive to levodopa. Three cases underwent levodopa challenge test with the objective levodopa responsiveness varied from 10.3% and 10.6% in 2 DP patients, to 77.0% in 1 EOPD patient. Levodopa-induced dyskinesias were present in 4 of them, and all appeared within the first year since the initiation of dopaminergic treatment. Two patients underwent bilateral deep brain stimulation (DBS) of subthalamic nucleus and globus pallidus internus respectively, albeit revealed poor outcome. Genetically, 8 PLA2G6 variants were identified. Two of them were found to be novel (c.1973A>G and exon2 heterozygous deletion), and the most frequent variant was the c.991G>T mutation which was detected in 4 patients. Conclusions:The phenotype of PLA2G6-related parkinsonism is complex. Cerebellar atrophy is a frequent magnetic resonance imaging feature. Levodopa responsiveness tends to depend on the clinical phenotype, and EOPD is better than DP. DBS might not be promising in DP patients with obvious cerebral atrophy. The c.991G>T mutation is the most frequent mutation, suggesting a common founder effect.

A Case of Severe Somatic Hallucination and Apathy with Parkinsonism Successfully Treated with Yokukansankachimpihange / 日本東洋医学雑誌

A 66-year-old woman presented with a choking feeling in her throat. She was hospitalized three times and started nasogastric tube feeding one year before. She was diagnosed as somatic hallucination by a psychiatrist and started antipsychotic medication. She was admitted to our department in September due to worsening of choking sensation. Her body weight was 29 kg, and she was significantly lethargic and undernourished, and had difficulty in moving, parkinsonism, cognitive dysfunction, and apathy. She was considered to be in late yin stage pattern and started on tsumyakushigyakuto, which enabled her to walk with a walker, but her choking sensation did not improve. Two days after the conversion to yokukansankachimpihange, her speech and smile increased, and her motivation improved. After the switch to the extract of yokukansankachimpihange, the fullness and discomfort in left chest and hypochondrium disappeared, and she was able to take jelly and walk by herself. She was transferred to other hospital in January of the following year. Three months after the transfer, she was able to take enteral nutrition by herself and her weight increased to 37 kg. Eight months later after the transfer, she was able to take solid food orally and her weight increased to 41.5 kg. Yokukansankachimpihange may be useful for treating the patients with somatic hallucination and apathy.

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.

Reversible cognitive impairment and parkinsonism with leukoencephalopathy due to cranial dural arteriovenous fistula / Deterioro cognitivo reversible y parkinsonismo con leucoencefalopatía por fístula arteriovenosa dural craneal

Parkinsonism and rapid cognitive impairment may have many causes, but only a few have specific treatment. Cranial dural arterio-venous fistula (DAVF) represents 10%-15% of intracranial arteriovenous malformations. Clinical manifestations depend on location and venous drainage. It is common the presence of pulsatile tinnitus, bruits and headache or headache and papilledema. Progres-sive cognitive decline is an unusual presentation due to bilateral thalamic edema or cortical venous hypertension. Endovascular or surgical treatment can reverse disease symptoms. We present a 74-year old man with rapidly progressive cognitive impairment and parkinsonism and a subsequent diagnosis of dural arteriovenous fistula (DAVF). Brain MRI revealed diffuse leukoencepha-lopathy probably attributable to elevated venous pressure. He was treated with partial embolization with Onix and left transverse sinus angioplasty. Following the procedure, there was a substantial reduction of venous pressure signs and remarkable clinical and imaging improvement, persisting at two years follow-up. This case represents an unusual presentation of DAVF. It is important to suspect the diagnosis of DAVF in cases with rapidly evolving cognitive impairment, parkinsonism and leukoencephalopathy as it can be reversible with early treatment.

El parkinsonismo y el deterioro cognitivo rápido pueden tener muchas causas, pero sólo unas pocas tienen tratamiento específico. La fístula arteriovenosa dural craneal (DAVF) representa el 10%-15% de las malformaciones arteriovenosas intracraneales. Las manifestaciones clínicas dependen de la localización y del drenaje venoso. Es frecuente la presencia de acúfenos pulsátiles, hematomas y cefalea o cefalea y papiledema. El deterioro cognitivo progresivo es una presentación inusual debida a edema talámico bilateral o hipertensión venosa cortical. El tratamiento endovascular o quirúrgico puede revertir los síntomas de la enfermedad. Presentamos a un hombre de 74 años con deterioro cognitivo rápidamente progresivo y parkinsonismo y un diagnóstico posterior de fístula arteriovenosa dural (FAVD). La resonancia magnética cerebral reveló una leucoencefalopatía difusa probablemente atribuible a una presión venosa elevada. Fue tratado con embolización parcial con Onix y angioplastia del seno transverso izquierdo. Tras el procedimiento, se produjo una reducción sustancial de los signos de presión venosa y una notable mejoría clínica y de imagen, que persiste a los dos años de seguimiento. Este caso representa una presentación inusual de DAVF. Es importante sospechar el diagnóstico de DAVF en casos con deterioro cognitivo, parkinsonismo y leucoencefalopatía de evolución rápida, ya que puede ser reversible con un tratamiento precoz.

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.

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.

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.

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.

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.

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.