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Keywords Movement disorders parkinson's...

Movement disorders parkinson's tremor Chorea

https://read.qxmd.com/read/38429185/genetic-testing-for-non-parkinsonian-movement-disorders-navigating-the-diagnostic-maze
#1
REVIEW
Cholpon Shambetova, Christine Klein
Genetic testing has become a valuable diagnostic tool for movement disorders due to substantial advancements in understanding their genetic basis. However, the heterogeneity of movement disorders poses a significant challenge, with many genes implicated in different subtypes. This paper aims to provide a neurologist's perspective on approaching patients with hereditary hyperkinetic disorders with a focus on select forms of dystonia, paroxysmal dyskinesia, chorea, and ataxia. Age at onset, initial symptoms, and their severity, as well as the presence of any concurrent neurological and non-neurological features, contribute to the individual clinical profiles of hereditary non-parkinsonian movement disorders, aiding in the selection of appropriate genetic testing strategies...
February 17, 2024: Parkinsonism & related Disorders
https://read.qxmd.com/read/38378310/recent-advances-in-non-huntington-s-disease-choreas
#2
REVIEW
Molly C Cincotta, Ruth H Walker
INTRODUCTION: Chorea is primarily due to an imbalance of basal ganglia output pathways, often due to dysfunction or degeneration of the caudate nucleus and putamen, and can be due to many causes. METHODS: We reviewed the recent literature to identify newly-recognized causes of chorea, including auto-immune, metabolic, and genetic. We also focused upon developments in mechanisms relating to underlying pathophysiology of certain genetic choreas and advances in therapeutics...
February 13, 2024: Parkinsonism & related Disorders
https://read.qxmd.com/read/38165345/emerging-subspecialties-pediatric-movement-disorders-neurology
#3
JOURNAL ARTICLE
Simran Kahlon, Christopher R Barton, Amal Abu Libdeh, Jennifer A O'Malley, Toni Pearson, Jeff L Waugh, Steve W Wu, Alonso G Zea Vera, Michael C Kruer
Pediatric movement disorders (PMD) neurologists care for infants, children, and adolescents with conditions that disrupt typical movement; serving as important subspecialist child neurologists in both academic and private practice settings. In contrast to adult movement disorders neurologists whose "bread and butter" is hypokinetic Parkinson disease, PMD subspecialty practice is often dominated by hyperkinetic movement disorders including tics, dystonia, chorea, tremor, and myoclonus. PMD neurology practice intersects with a variety of subspecialties, including neonatology, developmental pediatrics, rehabilitation medicine, epilepsy, child & adolescent psychiatry, psychology, orthopedics, genetics & metabolism, and neurosurgery...
January 23, 2024: Neurology
https://read.qxmd.com/read/38142629/evaluating-motor-progression-of-juvenile-onset-huntington-s-disease-an-enroll-hd-analysis
#4
JOURNAL ARTICLE
Sophia Nopoulos, Erin E Reasoner, Amy C Ogilvie, Annie Killoran, Jordan L Schultz
INTRODUCTION: Juvenile-onset Huntington's disease (JOHD) is characterized by a unique motor phenotype relative to patients with adult-onset Huntington's Disease (AOHD). This study characterized motor progression of JOHD to propose improved outcome measures for this group. METHODS: We used linear mixed effect regression models to compare progression of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score (TMS) and the chorea score between patients with JOHD and AOHD...
February 2024: Parkinsonism & related Disorders
https://read.qxmd.com/read/38022070/unmasking-uremic-encephalopathy-choreoathetoid-movements-mimicking-alcohol-withdrawal-in-a-person-with-an-alcohol-use-disorder
#5
Keyur Saboo, Rinkle Gemnani, Sourya Acharya, Sunil Kumar, Tushar Sontakke
Chorea is a disorder characterized by irregular, involuntary movements affecting the limbs, trunk, neck, or face. It can be a significant symptom in various neurologic diseases, including metabolic, autoimmune, and neurodegenerative conditions. The neural foundation that underlies the genesis of chorea appears to be fairly diverse, even though its pathophysiology is frequently associated with the malfunctioning of inhibitory circuits within the basal ganglia. Movement disorders such as tremors, myoclonus, ataxia, chorea, and Parkinsonism may arise due to renal dysfunction or complications from management like renal transplant and hemodialysis...
October 2023: Curēus
https://read.qxmd.com/read/37992538/analysis-of-htt-cag-repeat-expansion-among-healthy-individuals-and-patients-with-chorea-in-korea
#6
JOURNAL ARTICLE
Ryul Kim, Moon-Woo Seong, Bumjo Oh, Ho Seop Shin, Jee-Soo Lee, Sangmin Park, Mihee Jang, Beomseok Jeon, Han-Joon Kim, Jee-Young Lee
BACKGROUND: Although the epidemiology of Huntington's disease (HD) in Korea differs notably from that in Western countries, the genetic disparities between these regions remain unclear. OBJECTIVE: To investigate the characteristics and clinical significance of cytosine-adenine-guanine (CAG) repeat size associated with HD in the Korean population. METHODS: We analyzed the CAG repeat lengths of the HTT gene in 941 healthy individuals (1,882 alleles) and 954 patients with chorea (1,908 alleles) from two referral hospitals in Korea...
January 2024: Parkinsonism & related Disorders
https://read.qxmd.com/read/37840995/clinical-spectrum-radiological-correlation-and-outcome-of-movement-disorders-in-wilson-s-disease
#7
JOURNAL ARTICLE
Rohan R Mahale, Albert Stezin, Shweta Prasad, Nitish Kamble, Vikram V Holla, Manjunath Netravathi, Ravi Yadav, Pramod Kumar Pal
INTRODUCTION: Movement disorders are the commonest clinical presentation in patients with neurological Wilson's disease (NWD). There are very few studies evaluating the spectrum, severity and their correlation with magnetic resonance imaging (MRI) changes of movement disorders in NWD. OBJECTIVE: To study the spectrum, topographic distribution, radiological correlate, temporal course and outcome in our cohort of NWD patients. METHODS: Retrospective chart review of the NWD patients having movement disorders was performed and analyzed...
2023: Tremor and Other Hyperkinetic Movements
https://read.qxmd.com/read/37623268/overview-of-movement-disorders-secondary-to-drugs
#8
REVIEW
Jamir Pitton Rissardo, Nilofar Vora, Bejoi Mathew, Vikas Kashyap, Sara Muhammad, Ana Letícia Fornari Caprara
Drug-induced movement disorders affect a significant percentage of individuals, and they are commonly overlooked and underdiagnosed in clinical practice. Many comorbidities can affect these individuals, making the diagnosis even more challenging. Several variables, including genetics, environmental factors, and aging, can play a role in the pathophysiology of these conditions. The Diagnostic and Statistical Manual of Mental Disorders (DSM) and the International Statistical Classification of Diseases and Related Health Problems (ICD) are the most commonly used classification systems in categorizing drug-induced movement disorders...
August 18, 2023: Clinics and Practice
https://read.qxmd.com/read/37532621/a-review-of-movement-disorders-in-persons-living-with-hiv
#9
REVIEW
Ferzana Amod, Vikram V Holla, Rajeev Ojha, Sanjay Pandey, Ravi Yadav, Pramod Kumar Pal
BACKGROUND: The human immunodeficiency virus (HIV) causes movement disorders in persons living with HIV (PLH). OBJECTIVES AND METHODS: We conducted a systematic review on the spectrum of movement disorders in PLH using standard terms for each of the phenomenologies and HIV. RESULTS: Movement disorders in PLH were commonly attributed to opportunistic infections (OI), dopamine receptor blockade reactions, HIV-associated dementia (HAD), presented during seroconversion, developed due to drug reactions or antiretroviral therapy (ART) itself and lastly, movement disorders occurred as a consequence of the HIV-virus...
September 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/37152622/spectrum-and-pattern-of-movement-disorders-in-patients-with-sporadic-creutzfeldt-jakob-disease
#10
JOURNAL ARTICLE
Sandeep Gurram, Vikram V Holla, Praveen Sharma, Nitish Kamble, Jitender Saini, Manjunath Netravathi, Ravi Yadav, Pramod Kumar Pal
BACKGROUND: Creutzfeldt-Jakob disease (CJD) is a rare neuro degenerative disease that is mainly characterized by rapidly progressive dementia along with a varying combination of myoclonus, visual, cerebellar, pyramidal/extrapyramidal and akinetic mutism. Several movement disorders phenomenologies can occurs either at onset, as presenting symptom or during the course of illness. Present study aims to characterize the clinical, radiological features and the outcome of patients with CJD with movement disorders as the forthcoming manifestation...
2023: Tremor and Other Hyperkinetic Movements
https://read.qxmd.com/read/37142469/gnao1-related-movement-disorder-an-update-on-phenomenology-clinical-course-and-response-to-treatments
#11
REVIEW
Maria Novelli, Serena Galosi, Giovanna Zorzi, Simone Martinelli, Alessandro Capuano, Francesca Nardecchia, Tiziana Granata, Luca Pollini, Martina Di Rocco, Carlo Efisio Marras, Nardo Nardocci, Vincenzo Leuzzi
AIM: To evaluate clinical phenotype and molecular findings of 157 cases with GNAO1 pathogenic or likely pathogenic variants delineating the clinical spectrum, course, and response to treatments. METHOD: Clinical phenotype, genetic data, and pharmacological and surgical treatment history of 11 novel cases and 146 previously published patients were analyzed. RESULTS: Complex hyperkinetic movement disorder (MD) characterizes 88% of GNAO1 patients...
June 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/36949803/thyroid-disorders-and-movement-disorders-a-systematic-review
#12
REVIEW
Susanne A Schneider, Lea Tschaidse, Nicole Reisch
BACKGROUND: There is overlap between movement disorders and neuroendocrine abnormalities. OBJECTIVES AND METHODS: To provide a systematic review on the association of thyroid dysfunction and movement disorders. Thyroid physiological function and classical thyroid disorders highlighting typical and atypical manifestations including movement disorders, as well as diagnostic procedures, and treatments are discussed. RESULTS: Hypothyroidism may be associated with hypokinetic and hyperkinetic disorders...
March 2023: Movement Disorders Clinical Practice
https://read.qxmd.com/read/36949781/mimics-or-multiplicity-2-cases-of-rare-neurological-conditions-discovered-following-presentation-with-richardson-s-syndrome-phenotype
#13
Shane Lyons, Timothy Lynch, Richard Walsh, Sean O'Dowd
BACKGROUND: Progressive supranuclear palsy (PSP)-Richardson's syndrome (RS) presents with a distinctive clinical phenotype of supranuclear ophthalmoplegia, parkinsonism, postural instability with falls, and cognitive impairment. Several rare neurological conditions have been described that mimic PSP, and the co-occurrence of dual pathologies has also been described. CASES: In this article, we present 2 cases of patients who presented with a parkinsonian phenotype suggestive of PSP-RS...
March 2023: Movement Disorders Clinical Practice
https://read.qxmd.com/read/36893797/global-epidemiology-of-movement-disorders-rare-or-underdiagnosed
#14
REVIEW
Sarah A O'Shea, Ludy C Shih
In this manuscript, we review the epidemiology of movement disorders including Parkinson's disease (PD), atypical parkinsonism, essential tremor, dystonia, functional movement disorders, tic disorders, chorea, and ataxias. We emphasize age-, sex-, and geography-based incidence and prevalence, as well as notable trends including the rising incidence and prevalence of PD. Given the growing global interest in refining clinical diagnostic skills in recognizing movement disorders, we highlight some key epidemiological findings that may be of interest to clinicians and health systems tasked with diagnosing and managing the health of patients with movement disorders...
February 2023: Seminars in Neurology
https://read.qxmd.com/read/36872858/adult-onset-genetic-leukoencephalopathies-with-movement-disorders
#15
JOURNAL ARTICLE
Mu-Hui Fu, Yung-Yee Chang
Genetic leukoencephalopathies (GLEs) are a group of white matter abnormalities with heterogeneous radiological and phenotypic features. Although these conditions have mostly been described in children, adult-onset cases are increasingly recognized owing to the widespread use of neuroimaging and advances in molecular genetic testing. The disease course is often progressive with a varied spectrum of presentations, trapping neurologists in the dilemma of differential diagnosis. Movement disorders are among the most common symptoms, and their diversity makes diagnosis challenging...
May 2023: Journal of Movement Disorders
https://read.qxmd.com/read/36825049/presynaptic-hemiparkinsonism-following-cerebral-toxoplasmosis-case-report-and-literature-review
#16
REVIEW
Maria João Malaquias, Francesca Magrinelli, Andrea Quattrone, Ray Jen Neo, Anna Latorre, Eoin Mulroy, Kailash P Bhatia
BACKGROUND: Cerebral toxoplasmosis (CTx) is a central nervous system opportunistic infection with variable neurological manifestations. Although tropism of Toxoplasma gondii for the basal ganglia is well known, movement disorders (MDs) represent only a small percentage of CTx-related neurological complications. CTx-associated MDs are usually hyperkinetic, whereas parkinsonism associated with evidence of presynaptic dopaminergic deficit has never been described. CASE: We report a human immunodeficiency virus-positive patient who developed a complex MD featuring unilateral tremor combined with parkinsonism and dystonia following an acute episode of disseminated CTx...
February 2023: Movement Disorders Clinical Practice
https://read.qxmd.com/read/36805523/expanding-the-genotype-phenotype-landscape-of-pde10a-associated-movement-disorders
#17
JOURNAL ARTICLE
Saeed Bohlega, Ali H Abusrair, Zainah Al-Qahtani, Francisco J Guzmán-Vega, Reshmi Ramakrishnan, Haya Aldosari, Amaal Aldakheel, Salma Al-Qahtani, Dorota Monies, Stefan T Arold
BACKGROUND: Phosphodiesterase 10A (PDE10A) controls body movements by regulating cyclic adenosine monophosphate signaling in the basal ganglia. Two classes of PDE10A variants are reported with distinctive genotype-phenotype correlation. The autosomal recessive mutations in the GAF-A and catalytic domains are associated with compromised membrane localization, and manifest with infantile onset chorea, developmental, and cognition delay with normal brain MRI. Conversely, autosomal dominant mutations in the GAF-B domain cause protein aggregates which results in childhood onset chorea in the context of normal cognition and development, with striatal lesions...
February 13, 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/36561038/movement-disorder-in-demyelinating-disease-tracing-the-charcot-s-foot-print
#18
JOURNAL ARTICLE
Rashmi Singh, Sanjay Pandey
Movement disorders may be one of the neurological manifestations of demyelinating disorders. They can manifest in Parkinsonism or a wide spectrum of hyperkinetic movement disorders including tremor, paroxysmal dyskinesia, dystonia, chorea, and ballism. Some of these disorders occur during an acute episode of demyelination, whereas others can develop later or even may precede the onset of the demyelinating disorders. The pathophysiology of movement disorders in demyelination is complex and the current evidence indicates a wide involvement of different brain networks and spinal cord...
2022: Annals of Indian Academy of Neurology
https://read.qxmd.com/read/36470173/longitudinal-analysis-of-neuropsychiatric-symptoms-in-a-large-cohort-of-early-moderate-manifest-huntington-s-disease-patients
#19
JOURNAL ARTICLE
Jesús Ruiz-Idiago, Edith Pomarol-Clotet, Raymond Salvador
BACKGROUND: The relationship between neuropsychiatric symptoms (NPS) and other clinical dimensions in Huntington's disease (HD) is controversial. This longitudinal study analyzed the association between NPS and motor, cognitive and functional aspects of the disease along with other variables related to its clinical onset and progression. METHODS: 639 early-moderate HD patients were assessed longitudinally (mean: 4.95 visits/5 years). Generalized linear mixed models were used to explore associations between NPS and the aforementioned aspects...
January 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/36303814/accidental-falls-in-patients-with-hyperkinetic-movement-disorders-a-systematic-review
#20
REVIEW
Carl N Homann, Barbara Homann, Gerd Ivanic, Tadea Urbanic-Purkart
Background: The significance of falls and their repercussions in Parkinson's disease has been extensively researched. However, despite potentially serious effects on health and quality of life and negative impact on the healthcare system, there is not a sufficient understanding of the role of falls in hyperkinetic movement disorders (HKMDs). This review aims to provide an overview of the prevalence of falls, injuries, and preventive measures in the most common HKMDs. Methods: Studies up to May 1, 2022 were searched in PubMed using Medical Subjects Headings of relatively prevalent HKMDs associated with the terms "accidental falls", "injuries", "fractures", and "accident prevention"...
2022: Tremor and Other Hyperkinetic Movements
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