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Journals Movement Disorders : Official ...

Movement Disorders : Official Journal of the Movement Disorder Society

https://read.qxmd.com/read/38641910/bilateral-simultaneous-magnetic-resonance-guided-focused-ultrasound-pallidotomy-for-life-threatening-status-dystonicus
#1
JOURNAL ARTICLE
Vincenzo Levi, Mario Stanziano, Carmela Pinto, Federica Zibordi, Davide Fedeli, Valentina Caldiera, Roberto Cilia, Nico Golfrè Andreasi, Arianna Braccia, Carla Carozzi, Elisa Ciceri, Marina Grisoli, Marco Gemma, Vittoria Nazzi, Francesco DiMeco, Roberto Eleopra, Giovanna Zorzi
BACKGROUND: Invasive treatments like radiofrequency stereotactic lesioning or deep brain stimulation of the globus pallidus internus can resolve drug-resistant status dystonicus (SD). However, these open procedures are not always feasible in patients with SD. OBJECTIVE: The aim was to report the safety and efficacy of simultaneous asleep bilateral transcranial magnetic resonance-guided focused ultrasound (MRgFUS) pallidotomy for life-threatening SD. METHODS: We performed bilateral simultaneous MRgFUS pallidotomy under general anesthesia in 2 young patients with pantothenate kinase-associated neurodegeneration and GNAO1 encephalopathy...
April 19, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/38627965/yeast-prion-protein-sup35-initiates-%C3%AE-synuclein-pathology-in-parkinson-s-disease
#2
JOURNAL ARTICLE
Youcui Wang, Hui Li, Ning Song, Junxia Xie
Sinus infection of Saccharomyces cerevisiae accelerates the aggregation of α-synuclein (α-syn) in A53T mice, which was caused by prion protein Sup35. Sup35 promotes α-syn aggregation in vitro and in vivo and leads to Parkinson's disease (PD)-like motor impairment in wildtype mice, suggesting that the yeast Sup35 triggers α-syn pathology in PD.
April 16, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/38619077/recommendations-for-the-management-of-initial-and-refractory-pediatric-status-dystonicus
#3
REVIEW
Lindsey M Vogt, Kathryn Yang, Gabriel Tse, Vicente Quiroz, Zainab Zaman, Laura Wang, Rasha Srouji, Amy Tam, Elicia Estrella, Shannon Manzi, Alfonso Fasano, Weston T Northam, Scellig Stone, Mahendranath Moharir, Hernan Gonorazky, Brian McAlvin, Monica Kleinman, Kerri L LaRovere, Carolina Gorodetsky, Darius Ebrahimi-Fakhari
Status dystonicus is the most severe form of dystonia with life-threatening complications if not treated promptly. We present consensus recommendations for the initial management of acutely worsening dystonia (including pre-status dystonicus and status dystonicus), as well as refractory status dystonicus in children. This guideline provides a stepwise approach to assessment, triage, interdisciplinary treatment, and monitoring of status dystonicus. The clinical pathways aim to: (1) facilitate timely recognition/triage of worsening dystonia, (2) standardize supportive and dystonia-directed therapies, (3) provide structure for interdisciplinary cooperation, (4) integrate advances in genomics and neuromodulation, (5) enable multicenter quality improvement and research, and (6) improve outcomes...
April 15, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/38616406/stability-of-mosaic-divergent-repeat-interruptions-in-x-linked-dystonia-parkinsonism
#4
JOURNAL ARTICLE
Joshua Laß, Theresa Lüth, Kathleen Schlüter, Susen Schaake, Björn-Hergen Laabs, Christoph Much, Roland Dominic Jamora, Raymond L Rosales, Gerard Saranza, Cid Czarina E Diesta, Christopher E Pearson, Inke R König, Norbert Brüggemann, Christine Klein, Ana Westenberger, Joanne Trinh
BACKGROUND: X-Linked dystonia-parkinsonism (XDP) is an adult-onset neurodegenerative disorder characterized by rapidly progressive dystonia and parkinsonism. Mosaic Divergent Repeat Interruptions affecting motif Length and Sequence (mDRILS) were recently found within the TAF1 SVA repeat tract and were shown to associate with repeat stability and age at onset in XDP, specifically the AGGG [5'-SINE-VNTR-Alu(AGAGGG)2 AGGG(AGAGGG)n ] mDRILS. OBJECTIVE: This study aimed to investigate the stability of mDRILS frequencies and stability of (AGAGGG)n repeat length during transmission in parent-offspring pairs...
April 14, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/38616324/magnetic-resonance-guided-focused-ultrasound-mrgfus-thalamotomy-for-essential-tremor-lesion-location-and-clinical-outcomes
#5
JOURNAL ARTICLE
Alana Arcadi, Iciar Aviles-Olmos, Lain Hermes Gonzalez-Quarante, Arantza Gorospe, Adolfo Jiménez-Huete, Marta Macías de la Corte, Olga Parras, Antonio Martin-Bastida, Mario Riverol, Rafael Villino, Jorge Guridi, Maria C Rodríguez-Oroz
BACKGROUND: Factors predicting clinical outcomes after MR-guided focused ultrasound (MRgFUS)-thalamotomy in patients with essential tremor (ET) are not well known. OBJECTIVE: To examine the clinical outcomes and their relationship with patients' baseline demographic and clinical features and lesion characteristics at 6-month follow-up in ET patients. METHODS: A total of 127 patients were prospectively evaluated at 1 (n = 122), 3 (n = 102), and 6 months (n = 78) after MRgFUS-thalamotomy...
April 14, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/38610104/gpnmb-biomarker-levels-in-gba1-carriers-with-lewy-body-disorders
#6
JOURNAL ARTICLE
Eliza M Brody, Yunji Seo, EunRan Suh, Noor Amari, Whitney G Hartstone, R Tyler Skrinak, Hanwen Zhang, Maria E Diaz-Ortiz, Daniel Weintraub, Thomas F Tropea, Vivianna M Van Deerlin, Alice S Chen-Plotkin
BACKGROUND: The GPNMB single-nucleotide polymorphism rs199347 and GBA1 variants both associate with Lewy body disorder (LBD) risk. GPNMB encodes glycoprotein nonmetastatic melanoma protein B (GPNMB), a biomarker for GBA1-associated Gaucher's disease. OBJECTIVE: The aim of this study was to determine whether GPNMB levels (1) differ in LBD with and without GBA1 variants and (2) associate with rs199347 genotype. METHODS: We quantified GPNMB levels in plasma and cerebrospinal fluid (CSF) from 124 individuals with LBD with one GBA1 variant (121 plasma, 14 CSF), 631 individuals with LBD without GBA1 variants (626 plasma, 41 CSF), 9 neurologically normal individuals with one GBA1 variant (plasma), and 2 individuals with two GBA1 variants (plasma)...
April 12, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/38597193/conjugal-synucleinopathies-a-clinicopathologic-study
#7
JOURNAL ARTICLE
Charles H Adler, Matthew Halverson, Nan Zhang, Holly A Shill, Erika Driver-Dunckley, Shyamal H Mehta, Alireza Atri, John N Caviness, Geidy E Serrano, David R Shprecher, Christine M Belden, Marwan N Sabbagh, Kathy Long, Thomas G Beach
BACKGROUND: While preclinical studies have shown that alpha-synuclein can spread through cell-to-cell transmission whether it can be transmitted between humans is unknown. OBJECTIVES: The aim was to assess the presence of a synucleinopathy in autopsied conjugal couples. METHODS: Neuropathological findings in conjugal couples were categorized as Parkinson's disease (PD), dementia with Lewy bodies (DLB), Alzheimer's disease with Lewy bodies (ADLB), incidental Lewy body disease (ILBD), or no Lewy bodies...
April 10, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/38586905/clinical-utility-of-tectal-plate-measurements-on-magnetic-resonance-imaging-in-progressive-supranuclear-palsy
#8
JOURNAL ARTICLE
Abigail Amrami, Neha Atulkumar Singh, Farwa Ali, Nha Trang Thu Pham, Yehkyoung C Stephens, Keith A Josephs, Jennifer L Whitwell
BACKGROUND: Midbrain atrophy is a characteristic feature of progressive supranuclear palsy (PSP), observed in PSP-Richardson's syndrome (PSP-RS) and to a lesser extent PSP-parkinsonism (PSP-P). OBJECTIVE: Our aim was to critically evaluate the utility of manual magnetic resonance imaging measurements of the midbrain tectal plate as a diagnostic biomarker in PSP. METHODS: Length of the tectal plate and width of the superior and inferior colliculi were measured in 40 PSP (20 PSP-RS and 20 PSP-P) patients and compared with 20 Parkinson's disease and 20 healthy control subjects...
April 8, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/38586902/a-novel-pink1-p-f385s-loss-of-function-mutation-in-an-indian-family-with-parkinson-s-disease
#9
JOURNAL ARTICLE
Karan Sharma, Asha Kishore, Anna Lechado-Terradas, Raffaele Passannanti, Francesco Raimondi, Marc Sturm, Ashwin Ashok Kumar Sreelatha, Divya Kalikavila Puthenveedu, Gangadhara Sarma, Nicolas Casadei, Rejko Krüger, Thomas Gasser, Philipp Kahle, Olaf Riess, Julia C Fitzgerald, Manu Sharma
BACKGROUND: Most Parkinson's disease (PD) loci have shown low prevalence in the Indian population, highlighting the need for further research. OBJECTIVE: The aim of this study was to characterize a novel phosphatase tensin homolog-induced serine/threonine kinase 1 (PINK1) mutation causing PD in an Indian family. METHODS: Exome sequencing of a well-characterized Indian family with PD. A novel PINK1 mutation was studied by in silico modeling using AlphaFold2, expression of mutant PINK1 in human cells depleted of functional endogenous PINK1, followed by quantitative image analysis and biochemical assessment...
April 8, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/38586892/bodily-maps-of-symptoms-and-emotions-in-parkinson-s-disease
#10
JOURNAL ARTICLE
Kalle J Niemi, Annu Huovinen, Elina Jaakkola, Enrico Glerean, Lauri Nummenmaa, Juho Joutsa
BACKGROUND: Emotions are reflected in bodily sensations, and these reflections are abnormal in psychiatric conditions. However, emotion-related bodily sensations have not been studied in neurological disorders. OBJECTIVE: The aim of this study was to investigate whether Parkinson's disease (PD) is associated with altered bodily representations of emotions. METHODS: Symptoms and emotion-related sensations were investigated in 380 patients with PD and 79 control subjects, using a topographical self-report method, termed body sensation mapping...
April 8, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/38586886/cervical-dystonia-caused-by-variant-of-atp13a2-responsive-to-subthalamic-deep-brain-stimulation
#11
LETTER
Mingming Zhao, Xin Yan, Lin Wang, Feng Yin
No abstract text is available yet for this article.
April 8, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/38581205/clinical-and-molecular-spectrum-of-autosomal-recessive-ca8-related-cerebellar-ataxia
#12
JOURNAL ARTICLE
Rauan Kaiyrzhanov, Juan Darío Ortigoza-Escobar, Brett W Stringer, Manizha Ganieva, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Alfons Macaya, Andreas Laner, Enas Onbool, Randa Al-Shammari, Mohammed Al-Owain, Nicolas Deconinck, Catheline Vilain, Pauline Dontaine, Eleanor Self, Rabia Akram, Ghulam Hussain, Shahid Mahmood Baig, Javed Iqbal, Vincenzo Salpietro, Maedeh Neshatdoust, Mahboubeh Kasiri, Gozde Yesil, Turkan Uygur, Karen Pysden, Ian R Berry, Cesar Augusto Alves, Jean Giacomotto, Henry Houlden, Reza Maroofian
BACKGROUND: Based on a limited number of reported families, biallelic CA8 variants have currently been associated with a recessive neurological disorder named, cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CAMRQ-3). OBJECTIVES: We aim to comprehensively investigate CA8-related disorders (CA8-RD) by reviewing existing literature and exploring neurological, neuroradiological, and molecular observations in a cohort of newly identified patients...
April 6, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/38576116/de-novo-frmd5-missense-variants-in-patients-with-childhood-onset-ataxia-prominent-nystagmus-and-seizures
#13
JOURNAL ARTICLE
Ignacio J Keller Sarmiento, Bernabe I Bustos, Joanna Blackburn, Nicholas E F Hac, Maura Ruzhnikov, Matthea Monroe, Rebecca J Levy, Lisa Kinsley, Megan Li, Vincenzo Silani, Steven J Lubbe, Dimitri Krainc, Niccolò E Mencacci
BACKGROUND: FRMD5 variants were recently identified in patients with developmental delay, ataxia, and eye movement abnormalities. OBJECTIVES: We describe 2 patients presenting with childhood-onset ataxia, nystagmus, and seizures carrying pathogenic de novo FRMD5 variants. Weighted gene co-expression network analysis (WGCNA) was performed to gain insights into the function of FRMD5 in the brain. METHODS: Trio-based whole-exome sequencing was performed in both patients, and CoExp web tool was used to conduct WGCNA...
April 4, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/38576081/basic-science-in-movement-disorders-fueling-the-engine-of-translation-into-clinical-practice
#14
JOURNAL ARTICLE
Tiago F Outeiro, Lorraine V Kalia, Erwan Bezard, Juan Ferrario, Chin-Hsien Lin, Mohamed Salama, David G Standaert, Lolade Taiwo, Ryosuke Takahashi, Miquel Vila, Brit Mollenhauer, Per Svenningsson
Basic Science is crucial for the advancement of clinical care for Movement Disorders. Here, we provide brief updates on how basic science is important for understanding disease mechanisms, disease prevention, disease diagnosis, development of novel therapies and to establish the basis for personalized medicine. We conclude the viewpoint by a call to action to further improve interactions between clinician and basic scientists. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society...
April 4, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/38561921/idiopathic-rapid-eye-movement-sleep-behavior-disorder-irbd-shares-similar-fecal-short-chain-fatty-acid-alterations-with-multiple-system-atrophy-msa-and-parkinson-s-disease-pd
#15
JOURNAL ARTICLE
Juanjuan Du, Pingchen Zhang, Yuyan Tan, Chao Gao, Jin Liu, Maoxin Huang, Hongxia Li, Xin Shen, Pei Huang, Shengdi Chen
BACKGROUND: Idiopathic rapid eye movement sleep behavior disorder (iRBD) is considered as a prodromal stage of synucleinopathies. Fecal short-chain fatty acid (SCFA) changes in iRBD and the relationships with synucleinopathies have never been investigated. OBJECTIVES: To investigate fecal SCFA changes among iRBD, multiple system atrophy (MSA), and Parkinson's disease (PD), and evaluate their relationships. METHODS: Fecal SCFAs and gut microbiota were measured in 29 iRBD, 42 MSA, 40 PD, and 35 normal controls (NC) using gas chromatography-mass spectrometry and 16S rRNA gene sequencing...
April 1, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/38553807/correction-to-management-of-impulse-control-and-related-disorders-in-parkinson-s-disease-an-expert-consensus
#16
(no author information available yet)
No abstract text is available yet for this article.
March 29, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/38532534/unilateral-magnetic-resonance-imaging-guided-laser-interstitial-thermal-therapy-thalamotomy-for-essential-tremor
#17
JOURNAL ARTICLE
Mickael Aubignat, Mélissa Tir, Martial Ouendo, Salem Boussida, Jean-Marc Constans, Michel Lefranc
BACKGROUND: Essential tremor (ET) affects numerous adults, impacting quality of life (QOL) and often defying pharmacological treatment. Surgical interventions like deep brain stimulation (DBS) and lesional approaches, including radiofrequency, gamma-knife radiosurgery, and magnetic resonance imaging (MRI)-guided focused ultrasound, offer solutions but are not devoid of limitations. OBJECTIVES: This retrospective, single-center, single-blinded pilot study aimed to assess the safety and efficacy of unilateral MRI-guided laser interstitial thermal therapy (MRIg-LITT) thalamotomy for medically intractable ET...
March 26, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/38532309/contribution-of-nutritional-lifestyle-and-metabolic-risk-factors-to-parkinson-s-disease
#18
JOURNAL ARTICLE
Nicola Veronese, Andrea Nova, Teresa Fazia, Emilia Riggi, Lin Yang, Laura Piccio, Bo-Huei Huang, Matthew Ahmadi, Mario Barbagallo, Maria Notarnicola, Gianluigi Giannelli, Giovanni De Pergola, Emmanuel Stamatakis, Emanuele Cereda, Luisa Bernardinelli, Luigi Fontana
BACKGROUND: Modifiable risk factors for Parkinson's disease (PD) are poorly known. OBJECTIVES: The aim is to evaluate independent associations of different nutritional components, physical activity, and sedentary behavior and metabolic factors with the risk of PD. METHODS: In this population-based prospective cohort study using the data of the United Kingdom Biobank (from 2006-2010), 502,017 men and women who were free from PD (International Classification of Diseases 10th edition; "G20") at baseline were included...
March 26, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/38532269/re-emergent-tremor-in-parkinson-s-disease-evidence-of-pathologic-%C3%AE-and-prokinetic-%C3%AE-activity
#19
JOURNAL ARTICLE
Hao Ding, Bahman Nasseroleslami, Daniela Mirzac, Ioannis Ugo Isaias, Jens Volkmann, Günther Deuschl, Sergiu Groppa, Muthuraman Muthuraman
BACKGROUND: Re-emergent tremor is characterized as a continuation of resting tremor and is often highly therapy refractory. This study examines variations in brain activity and oscillatory responses between resting and re-emergent tremors in Parkinson's disease. METHODS: Forty patients with Parkinson's disease (25 males, mean age, 66.78 ± 5.03 years) and 40 age- and sex-matched healthy controls were included in the study. Electroencephalogram and electromyography signals were simultaneously recorded during resting and re-emergent tremors in levodopa on and off states for patients and mimicked by healthy controls...
March 26, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/38529776/alterations-of-peripheral-lymphocyte-subsets-in-isolated-rapid-eye-movement-sleep-behavior-disorder
#20
JOURNAL ARTICLE
Yuanchu Zheng, Yatong Li, Huihui Cai, Wenyi Kou, Chen Yang, Siming Li, Jiawei Wang, Ning Zhang, Tao Feng
BACKGROUND: Adaptive immune dysfunction may play a crucial role in Parkinson's disease (PD) development. Isolated rapid eye movement sleep behavior disorder (iRBD) represents the prodromal stage of synucleinopathies, including PD. Elucidating the peripheral adaptive immune system is crucial in iRBD, but current knowledge remains limited. OBJECTIVE: This study aimed to characterize peripheral lymphocyte profiles in iRBD patients compared with healthy control subjects (HCs)...
March 26, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
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