journal
https://read.qxmd.com/read/36935320/heterozygous-pathogenic-variant-in-gch1-associated-with-treatable-severe-spastic-tetraplegia-expert-opinion
#1
EDITORIAL
Philippe A Salles
No abstract text is available yet for this article.
March 15, 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/36934697/complex-motor-tics-and-neurobehavioral-syndrome-in-diencephalic-mesencephalic-junction-dysplasia-association-or-causation
#2
LETTER
Saranya B Gomathy, Animesh Das, Ajay Garg, Achal Kumar Srivastava
Too little is known about DMJD in adults. Various phenotypic presentations in adults with DMJD and long-term follow-up is needed to further characterise this disease.
March 15, 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/36933499/the-impact-of-dysphagia-in-parkinson-s-disease-patients-treated-with-levodopa-carbidopa-intestinal-gel
#3
JOURNAL ARTICLE
Domiziana Rinaldi, Gabriele Imbalzano, Silvia Galli, Edoardo Bianchini, Claudia Ledda, Lanfranco De Carolis, Maurizio Zibetti, Leonardo Lopiano, Francesco Ernesto Pontieri, Carlo Alberto Artusi
BACKGROUND: Dysphagia is common in advanced phases of Parkinson disease (PD), and is a risk factor for aspiration pneumonia. Nonetheless, dysphagia has been poorly investigated in PD patients treated with levodopa-carbidopa intestinal gel (LCIG). We aimed to analyze the impact of dysphagia on mortality in LCIG treated patients and its relationship with other PD disability milestones. METHODS: We retrospectively evaluated 95 consecutive PD patients treated with LCIG...
March 15, 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/36948990/to-lump-or-to-split-deep-brain-stimulation-may-improve-non-motor-symptoms-in-certain-parkinson-s-disease-subtypes
#4
EDITORIAL
Neepa Patel
No abstract text is available yet for this article.
March 14, 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/36935321/could-jc-virus-be-involved-in-the-onset-of-multiple-system-atrophy-a-hypothesis
#5
JOURNAL ARTICLE
Morgane Linard, Alexandra Foubert-Samier, Jordi Pacaud, Catherine Helmer
No abstract text is available yet for this article.
March 11, 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/36921515/diagnosis-of-vascular-parkinsonism-a-new-tool-for-gait-hypokinesia-occurring-in-older-persons
#6
JOURNAL ARTICLE
Michèle Kiesmann, Raphaël Ewald Martin, Erik Sauleau, Irina Bulubas, Marie Céline Fleury, Jérémie Perisse, Georges Kaltenbach, Elise Schmitt
INTRODUCTION: Reliable diagnosis of vascular parkinsonism (VaP) in the presence of a gait hypokinesia is an issue that is encountered in geriatrics. The EVAMAR-AGEX study was focusing on the phenomenon of recurrent falls in older persons (OP) with this parkinsonian gait. The present study is focusing on the diagnosis of VaP-related parkinsonian gait by developing a diagnostic guidance model adapted to OP. METHODS: Data from baseline and the 2-year follow-up visit were used to carry out univariate analysis and calculation of odds ratios, allowing to identify relevant variables to include in the diagnostic guidance model...
March 8, 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/36922272/imaging-based-dbs-programming-help-does-it-help
#7
EDITORIAL
Kelly A Mills, Zoltan Mari
No abstract text is available yet for this article.
March 7, 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/36922273/levodopa-homocysteine-and-parkinson-s-disease-what-s-the-problem
#8
REVIEW
J Eric Ahlskog
Elevated circulating homocysteine levels have been associated with cognitive impairment and cardio-cerebro-vascular events. Levodopa treatment of Parkinson's disease tends to further elevate circulating homocysteine levels due to the metabolism of levodopa via catechol-O-methyltransferase (COMT). COMT co-factors are vitamins B12, B6 and folic acid. Accumulating deficiencies of these vitamins are presumed to be the substrate for the homocysteine elevation. B-vitamin therapy reduces homocysteine levels. This begs the question of whether Parkinson's disease patients on levodopa should be concurrently treated with ongoing B-vitamin therapy (versus long-term monitoring of B-vitamins/homocysteine)...
March 6, 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/36905718/clozapine-efficacy-for-parkinson-disease-psychosis-in-patients-refractory-to-pimavanserin
#9
LETTER
Beatriz H Thames, William G Ondo
Pimavanserin is the only approved drug for Parkinson's disease psychosis (PDP) and is an increasingly used therapy where available. Clozapine has proven efficacy for PDP but is much less commonly used secondary to frequent blood tests to monitor for agranulocytopenia. We identified 27 patients with PDP (72 ± 7.3 years, 11 (41%) female), with an inadequate response to pimavanserin, who subsequently started clozapine. The final mean daily dose of clozapine was 49.5 mg [range 25-100] at night, and mean duration of follow-up was 17 months [range: 2-50 months]...
March 5, 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/36905719/wrist-worn-sensor-based-measurements-for-drug-effect-detection-with-small-samples-in-people-with-lewy-body-dementia
#10
JOURNAL ARTICLE
Chen Chen, Nathan R Kowahl, Erin Rainaldi, Maximilien Burq, Leanne M Munsie, Chakib Battioui, Jian Wang, Kevin Biglan, William J Marks, Ritu Kapur
INTRODUCTION: Few late-stage clinical trials in Parkinson's disease (PD) have produced evidence on the clinical validity of sensor-based digital measurements of daily life activities to detect responses to treatment. The objective of this study was to assess whether digital measures from patients with mild-to-moderate Lewy Body Dementia demonstrate treatment effects during a randomized Phase 2 trial. METHODS: Substudy within a 12-week trial of mevidalen (placebo vs 10, 30, or 75 mg), where 70/344 patients (comparable to the overall population) wore a wrist-worn multi-sensor device...
March 4, 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/36948111/from-parasomnia-to-agrypnia-excitata-an-illustrative-case-on-diagnostic-approach
#11
JOURNAL ARTICLE
Si-Lei Fong, Alfand Marl F Dy Closas, Thien Thien Lim, Phooi Leng Lean, Ee Chin Loh, Shen-Yang Lim, Ai Huey Tan
The diagnostic approach to sleep-related movements disorders is seldom discussed. We report a case of fatal familial insomnia who initially presented with persistent limb movements in sleep, which later progressed to a state of agrypnia excitata. Here, the evaluation of abnormal movements in sleep is discussed using a step-by-step diagnostic approach. Although no cure is available for fatal familial insomnia, prompt recognition of this condition is important to facilitate proper management, including the involvement of interdisciplinary neuropalliative care...
March 2, 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/36917914/the-effect-of-task-oriented-circuit-training-based-telerehabilitation-on-upper-extremity-motor-functions-in-patients-with-parkinson-s-disease-a-randomized-controlled-trial
#12
JOURNAL ARTICLE
Sefa Eldemir, Arzu Guclu-Gunduz, Kader Eldemir, Fettah Saygili, Rezzak Yilmaz, Muhittin Cenk Akbostancı
INTRODUCTION: Upper extremity functions are impaired in patients with Parkinson's disease (PwPD), which leads to difficulties in activities of daily living (ADL), such as reaching or handwriting. The aim of this study was to investigate the effectiveness of task-oriented circuit training-based telerehabilitation (TOCT-TR) on the upper extremity motor function in PwPD. METHODS: In this randomized controlled trial (RCT) 30 PwPD (aged 45-70 years, Hoehn & Yahr stage I-III) were recruited and randomly allocated into two groups...
February 28, 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/36868910/does-spinal-cord-stimulation-improve-gait-in-parkinson-s-disease-a-comprehensive-review
#13
REVIEW
Jesco Streumer, Ashok K Selvaraj, Erkan Kurt, Bastiaan R Bloem, Rianne A J Esselink, Ronald H M A Bartels, Dejan Georgiev, R Saman Vinke
INTRODUCTION: Axial disability, including gait disturbances, is common in Parkinson's disease (PD), especially in advanced stages. Epidural spinal cord stimulation (SCS) has been investigated as a treatment option for gait disorders in PD. Here, we review the literature on SCS in PD and evaluate its efficacy, optimal stimulation parameters, optimal electrode locations, possible effects of concurrent deep brain stimulation, and possible working mechanisms on gait. METHODS: Databases were searched for human studies involving PD patients who received an epidural SCS intervention and who had at least one gait-related outcome measure...
February 27, 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/36863114/advanced-gynecologic-surgery-in-women-with-parkinson-s-disease
#14
JOURNAL ARTICLE
Diksha Mohanty, Ankita Gupta, David Sheyn, Jeremy T Gaskins, Md Yasin Ali Parh, C Emi Bretschneider, Abhimanyu Mahajan
OBJECTIVE: To assess the effect of Parkinson's disease (PD) on perioperative outcomes following gynecologic surgery. BACKGROUND: Gynecological complaints are common among women with PD but under-reported, under-diagnosed and under-treated, in part due to surgical hesitancy. Non-surgical management options are not always acceptable to patients. Advanced gynecologic surgeries are effective for symptom management. Hesitancy toward elective surgery in PD stems from concern regarding perioperative risks...
February 27, 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/36863113/a-novel-c19orf12-frameshift-mutation-in-a-mpan-pedigree-impairs-mitochondrial-function-and-connectivity-leading-to-neurodegeneration
#15
JOURNAL ARTICLE
Huan-Yun Chen, Han-I Lin, Chia-Lang Hsu, Pei-Lung Chen, Cheng-Yen Huang, Shu-Chun Teng, Chin-Hsien Lin
BACKGROUND: Mitochondrial membrane protein‒associated neurodegeneration (MPAN) is a rare genetic disease characterized by progressive neurodegeneration with brain iron accumulations combined with neuronal α-synuclein and tau aggregations. Mutations in C19orf12 have been associated with both autosomal recessive and autosomal dominant inheritance patterns of MPAN. METHODS: We present clinical features and functional evidence from a Taiwanese family with autosomal dominant MPAN caused by a novel heterozygous frameshift and nonsense mutation in C19orf12, c273_274 insA (p...
February 27, 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/36870157/distinct-phenotypes-of-stimulation-induced-dysarthria-represent-different-cortical-networks-in-stn-dbs
#16
JOURNAL ARTICLE
Florian Lange, Hazem Eldebakey, Alexandra Hilgenberg, Benedikt Weigl, Marie Eckert, Angela DeSunda, Hermann Neugebauer, Robert Peach, Jonas Roothans, Jens Volkmann, Martin M Reich
BACKGROUND: Deep brain stimulation of the subthalamic nucleus is an effective treatment of Parkinson's disease, yet it is often associated with a general deterioration of speech intelligibility. Clustering the phenotypes of dysarthria has been proposed as a strategy to tackle these stimulation-induced speech problems. METHODS: In this study, we examine a cohort of 24 patients to test the real-life application of the proposed clustering and attempt to attribute the clusters to specific brain networks with two different approaches of connectivity analysis...
February 25, 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/36868037/wearable-sensors-for-assessing-disease-severity-and-progression-in-progressive-supranuclear-palsy
#17
JOURNAL ARTICLE
Filomena Abate, Michela Russo, Carlo Ricciardi, Maria Francesca Tepedino, Maria Romano, Roberto Erro, Maria Teresa Pellecchia, Marianna Amboni, Paolo Barone, Marina Picillo
INTRODUCTION: Progressive supranuclear palsy (PSP) is an atypical parkinsonism characterized by prominent gait and postural impairment. The PSP rating scale (PSPrs) is a clinician-administered tool to evaluate disease severity and progression. More recently, digital technologies have been used to investigate gait parameters. Therefore, object of this study was to implement a protocol using wearable sensors evaluating disease severity and progression in PSP. METHODS: Patients were evaluated with the PSPrs as well as with three wearable sensors located on the feet and lumbar area...
February 24, 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/36854213/motor-band-sign-in-a-huntington-disease-phenocopy
#18
LETTER
Deepa Dash, Tiago A Mestre
We report a 68-year-old lady who presented with Huntington phenocopy with generalized chorea and was genetically proven to have Spinocerebellar ataxia (SCA)17. MRI Brain demonstrated motor band sign, which is most commonly reported in motor neuron disease. This is the first case of motor band sign with SCA 17 and highlights the widening spectrum of radiological signs in SCA 17.
February 20, 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/36827951/double-blind-nonrandomized-crossover-study-of-active-recharge-biphasic-deep-brain-stimulation-for-primary-dystonia
#19
JOURNAL ARTICLE
Joshua K Wong, Janine Melo Lobo Jofili Lopes, Wei Hu, Anson Wang, Ka Loong Kelvin Au, Tamara Stiep, Jessica Frey, Jon B Toledo, Robert S Raike, Michael S Okun, Leonardo Almeida
BACKGROUND: Deep brain stimulation (DBS) of the globus pallidus interna (GPi) is an effective therapy for select patients with primary dystonia. DBS programming for dystonia is often challenging due to variable time to symptomatic improvement or stimulation induced side effects (SISE) such as capsular or optic tract activation which can prolong device optimization. OBJECTIVE: To characterize the safety and tolerability of active recharge biphasic DBS (bDBS) in primary dystonia and to compare it to conventional clinical DBS (clinDBS)...
February 18, 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/36842867/multidomain-cognitive-training-increases-physical-activity-in-people-with-parkinson-s-disease-with-mild-cognitive-impairment
#20
JOURNAL ARTICLE
Merle Bode, Patricia Sulzer, Claudia Schulte, Sara Becker, Kathrin Brockmann, Saskia Elben, Ann-Kristin Folkerts, Anja Ophey, Christian Schlenstedt, Karsten Witt, Lars Wojtecki, Jordi Evers, Walter Maetzler, Elke Kalbe, Inga Liepelt-Scarfone
INTRODUCTION: Cognitive impairment in Parkinson's disease (PD), especially in patients with mild cognitive impairment (PD-MCI), coincides with less physical activity. Cognitive trainings (CT) have been found to promote laboratory environment-based movement. Knowledge about their effect in natural home-based environment, reflecting everyday function, is sparse. This explorative study investigated short-term effects of CT on physical activity assessed by home-based accelerometry, and its relation to change of cognitive function over time and non-cognitive outcomes in patients with PD-MCI...
February 17, 2023: Parkinsonism & related Disorders
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