journal
Journals Movement Disorders : Official ...

Movement Disorders : Official Journal of the Movement Disorder Society

https://read.qxmd.com/read/37776035/wearables-for-parkinson-s-fast-paced-toward-novel-outcome-measures
#1
JOURNAL ARTICLE
Jules M Janssen Daalen, Thomas H Oosterhof, Bastiaan R Bloem, Sirwan K L Darweesh
No abstract text is available yet for this article.
September 29, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/37772771/magnetic-susceptibility-in-progressive-supranuclear-palsy-variants-parkinson-s-disease-and-corticobasal-syndrome
#2
JOURNAL ARTICLE
Ryota Satoh, Stephen D Weigand, Nha Trang Thu Pham, Farwa Ali, Arvin Arani, Matthew L Senjem, Clifford R Jack, Jennifer L Whitwell, Keith A Josephs
BACKGROUND: Previous studies have shown that magnetic susceptibility is increased in several subcortical regions in progressive supranuclear palsy (PSP). However, it is still unclear how subcortical and cortical susceptibilities vary across different PSP variants, Parkinson's disease (PD), and corticobasal syndrome (CBS). OBJECTIVE: This study aims to clarify the susceptibility profiles in the subcortical and cortical regions in different PSP variants, PD, and CBS...
September 29, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/37752895/phenotypic-heterogeneity-in-patients-with-mutations-in-the-mitochondrial-complex-i-assembly-gene-ndufaf5
#3
JOURNAL ARTICLE
Pin-Shiuan Chen, Ni-Chung Lee, Chieh-Ju Sung, Ya-Wen Liu, Wen-Chin Weng, Pi-Chuan Fan, Wang-Tso Lee, Yin-Hsiu Chien, Chao-Szu Wu, Yueh-Feng Sung, Ming-Chen Tsai, Yi-Chung Lee, Hsueh-Wen Hsueh, Sabrina Mai-Yi Fan, Meng-Chen Wu, Hsun Li, Huan-Yun Chen, Han-I Lin, Chih-Hsin Ou-Yang, Wuh-Liang Hwuh, Chin-Hsien Lin
BACKGROUND: Rare mutations in NADH:ubiquinone oxidoreductase complex assembly factor 5 (NDUFAF5) are linked to Leigh syndrome. OBJECTIVE: We aimed to describe clinical characteristics and functional findings in a patient cohort with NDUFAF5 mutations. METHODS: Patients with biallelic NDUFAF5 mutations were recruited from multi-centers in Taiwan. Clinical, laboratory, radiological, and follow-up features were recorded and mitochondrial assays were performed in patients' skin fibroblasts...
September 27, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/37750340/harmonizing-genetic-testing-for-parkinson-s-disease-results-of-the-parknet-multicentric-study
#4
JOURNAL ARTICLE
Alessio Di Fonzo, Marco Percetti, Edoardo Monfrini, Ilaria Palmieri, Alberto Albanese, Micol Avenali, Anna Bartoletti-Stella, Fabio Blandini, Gloria Brescia, Giovanna Calandra-Buonaura, Rosa Campopiano, Sabina Capellari, Isabel Colangelo, Giacomo Pietro Comi, Giada Cuconato, Rosangela Ferese, Caterina Galandra, Stefano Gambardella, Barbara Garavaglia, Andrea Gaudio, Emiliano Giardina, Federica Invernizzi, Paola Mandich, Rossana Mineri, Celeste Panteghini, Chiara Reale, Lucia Trevisan, Stefania Zampatti, Pietro Cortelli, Enza Maria Valente
BACKGROUND AND OBJECTIVE: Early-onset Parkinson's disease (EOPD) commonly recognizes a genetic basis; thus, patients with EOPD are often addressed to diagnostic testing based on next-generation sequencing (NGS) of PD-associated multigene panels. However, NGS interpretation can be challenging in a diagnostic setting, and few studies have addressed this issue so far. METHODS: We retrospectively collected data from 648 patients with PD with age at onset younger than 55 years who underwent NGS of a minimal shared panel of 15 PD-related genes, as well as PD-multiplex ligation-dependent probe amplification in eight Italian diagnostic laboratories...
September 26, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/37736925/sex-distribution-of-gba1-variants-carriers-with-dementia-with-lewy-bodies-and-parkinson-s-disease
#5
LETTER
Marco Toffoli, Anthony H V Schapira, Christos Proukakis
No abstract text is available yet for this article.
September 22, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/37735923/bidirectional-transcription-at-the-ppp2r2b-gene-locus-in-spinocerebellar-ataxia-type-12
#6
JOURNAL ARTICLE
Chengqian Zhou, Hans B Liu, Fatemeh Jahanbakhsh, Leon Deng, Bin Wu, Mingyao Ying, Russell L Margolis, Pan P Li
BACKGROUND: Spinocerebellar ataxia type 12 (SCA12) is a neurodegenerative disease caused by expansion of a CAG repeat in the PPP2R2B gene. OBJECTIVE: In this study, we tested the hypothesis that the PPP2R2B antisense (PPP2R2B-AS1) transcript containing a CUG repeat is expressed and contributes to SCA12 pathogenesis. METHODS: Expression of PPP2R2B-AS1 transcript was detected in SCA12 human induced pluripotent stem cells (iPSCs), iPSC-derived NGN2 neurons, and SCA12 knock-in mouse brains using strand-specific reverse transcription polymerase chain reaction...
September 21, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/37735886/between-nothing-and-everything-phenomenology-in-movement-disorders
#7
JOURNAL ARTICLE
Anna Sadnicka, Mark John Edwards
No abstract text is available yet for this article.
September 21, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/37702261/proprioceptive-modulation-of-pallidal-physiology-in-cervical-dystonia
#8
JOURNAL ARTICLE
Alexey Sedov, Prajakta Joshi, Ulia Semenova, Svetlana Usova, Svetlana Asriyants, Anna Gamaleya, Alexey Tomskiy, Hyder A Jinnah, Aasef G Shaikh
BACKGROUND: There is a growing body of evidence suggesting that botulinum toxin can alter proprioceptive feedback and modulate the muscle-spindle output for the treatment of dystonia. However, the mechanism for this modulation remains unclear. METHODS: We conducted a study involving 17 patients with cervical dystonia (CD), seven of whom had prominent CD and 10 with generalized dystonia (GD) along with CD. We investigated the effects of neck vibration, a form of proprioceptive modulation, on spontaneous single-neuron responses and local field potentials (LFPs) recorded from the globus pallidum externus (GPe) and internus (GPi)...
September 13, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/37700489/astrocyte-responses-influence-local-effects-of-whole-brain-magnetic-stimulation-in-parkinsonian-rats
#9
JOURNAL ARTICLE
Giuseppina Natale, Micol Colella, Maria De Carluccio, Daniele Lelli, Alessandra Paffi, Filippo Carducci, Francesca Apollonio, Daniela Palacios, Maria Teresa Viscomi, Micaela Liberti, Veronica Ghiglieri
BACKGROUND: Excessive glutamatergic transmission in the striatum is implicated in Parkinson's disease (PD) progression. Astrocytes maintain glutamate homeostasis, protecting from excitotoxicity through the glutamate-aspartate transporter (GLAST), whose alterations have been reported in PD. Noninvasive brain stimulation using intermittent theta-burst stimulation (iTBS) acts on striatal neurons and glia, inducing neuromodulatory effects and functional recovery in experimental parkinsonism...
September 12, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/37675653/prediagnostic-blood-metal-levels-and-the-risk-of-parkinson-s-disease-a-large-european-prospective-cohort
#10
JOURNAL ARTICLE
Yujia Zhao, Anushree Ray, Karin Broberg, Maria Kippler, Christina M Lill, Paolo Vineis, Verena A Katzke, Miguel Rodriguez-Barranco, María-Dolores Chirlaque, Marcela Guevara, Jesús-Humberto Gómez, Johnni Hansen, Salvatore Panico, Lefkos T Middleton, Giovanna Masala, Valeria Pala, Ana Vinagre-Aragon, Maurizio Zibetti, Roel Vermeulen, Susan Peters
BACKGROUND: Metals have been postulated as environmental concerns in the etiology of Parkinson's disease (PD), but metal levels are typically measured after diagnosis, which might be subject to reverse causality. OBJECTIVE: The aim of this study was to investigate the association between prediagnostic blood metal levels and PD risk. METHODS: A case-control study was nested in a prospective European cohort, using erythrocyte samples collected before PD diagnosis...
September 7, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/37670567/dopamine-transporter-availability-in-early-parkinson-s-disease-is-dependent-on-sunlight-exposure
#11
JOURNAL ARTICLE
Jan Booij, Sem P Tellier, John Seibyl, Chris Vriend
BACKGROUND: Preliminary studies suggested seasonality of dopaminergic functioning, but it is unknown whether dopamine transporter (DAT) expression in humans is also dependent on the seasons. We, therefore, investigated seasonal and sunlight-dependent effects on DAT availability in early Parkinson's disease (PD) patients and healthy controls. METHODS: DAT single-photon emission computed tomography scans (n = 730) were gathered from the Parkinson's Progression Marker Initiative (PPMI) database...
September 5, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/37670483/an-autopsy-series-of-seven-cases-of-vps13a-disease-chorea-acanthocytosis
#12
JOURNAL ARTICLE
Ricky M Ditzel, Ruth H Walker, Melissa J Nirenberg, Amber M Tetlow, Kurt Farrell, Kourtni J Lind-Watson, Emma L Thorn, Diana K Dangoor, Ronald Gordon, Claudia De Sanctis, Brandon Barton, Barbara I Karp, Alana Kirby, Debra J Lett, Karin Mente, David K Simon, Antonio Velayos-Baeza, Gabriel Miltenberger-Miltenyi, Jack Humphrey, John F Crary
BACKGROUND: Vacuolar protein sorting 13 homolog A (VPS13A) disease, historically known as chorea-acanthocytosis, is a rare neurodegenerative disorder caused by biallelic mutations in VPS13A, usually resulting in reduced or absent levels of its protein product, VPS13A. VPS13A localizes to contact sites between subcellular organelles, consistent with its recently identified role in lipid transfer between membranes. Mutations are associated with neuronal loss in the striatum, most prominently in the caudate nucleus, and associated marked astrogliosis...
September 5, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/37670426/isolation-of-l1cam-extracellular-vesicles-reveals-signs-of-insulin-resistance-in-parkinson-s-disease
#13
LETTER
Ioanna Markaki, Wojciech Paslawski, Theodora Ntetsika, Lisa Engesvik, Sergiu-Bogdan Catrina, Per Svenningsson
No abstract text is available yet for this article.
September 5, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/37667909/correction-to-olfactory-neuron-substance-p-is-overexpressed-in-parkinson-s-disease-reflecting-gut-dysfunction
#14
(no author information available yet)
No abstract text is available yet for this article.
September 5, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/37658644/asymmetry-of-the-dentato-rubro-thalamic-tracts-in-cervical-dystonia
#15
LETTER
Rachel E Sondergaard, Conrad P Rockel, Filomeno Cortese, G Bruce Pike, Zelma H T Kiss, Davide Martino
No abstract text is available yet for this article.
September 1, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/37658585/the-impact-of-sex-specific-survival-on-the-incidence-of-dementia-in-parkinson-s-disease
#16
JOURNAL ARTICLE
Anne Fink, Richard Dodel, Daniela Georges, Gabriele Doblhammer
OBJECTIVE: The aim of our study is to analyze sex-specific patterns of Parkinson's disease dementia (PDD) incidence. We are investigating the extent to which sex differences in survival after initial Parkinson's disease (PD) diagnosis influence differences in PDD risk among PD patients. METHODS: We used a random sample of German longitudinal health claims data of persons ages 50+ (2004-2019; n = 250,000) and identified new PD cases ages 65+ who were followed-up for a PDD diagnosis or death between 2006 and 2017...
September 1, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/37655363/automatic-covariance-pattern-analysis-outperforms-visual-reading-of-18-f-fluorodeoxyglucose-positron-emission-tomography-fdg-pet-in-variant-progressive-supranuclear-palsy
#17
JOURNAL ARTICLE
Ralph Buchert, Florian Wegner, Hans-Jürgen Huppertz, Georg Berding, Matthias Brendel, Ivayla Apostolova, Carsten Buhmann, Alexander Dierks, Sabrina Katzdobler, Martin Klietz, Johannes Levin, Nima Mahmoudi, Andreas Rinscheid, Sophia Rogozinski, Jost-Julian Rumpf, Christine Schneider, Sophia Stöcklein, Phoebe G Spetsieris, David Eidelberg, Mike P Wattjes, Osama Sabri, Henryk Barthel, Günter Höglinger
BACKGROUND: To date, studies on positron emission tomography (PET) with 18 F-fluorodeoxyglucose (FDG) in progressive supranuclear palsy (PSP) usually included PSP cohorts overrepresenting patients with Richardson's syndrome (PSP-RS). OBJECTIVES: To evaluate FDG-PET in a patient sample representing the broad phenotypic PSP spectrum typically encountered in routine clinical practice. METHODS: This retrospective, multicenter study included 41 PSP patients, 21 (51%) with RS and 20 (49%) with non-RS variants of PSP (vPSP), and 46 age-matched healthy controls...
September 1, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/37646183/cortical-disinhibition-drives-freezing-of-gait-in-parkinson-s-disease-and-an-exploratory-repetitive-transcranial-magnetic-stimulation-study
#18
JOURNAL ARTICLE
Huimin Sun, Caiting Gan, Lina Wang, Min Ji, Xingyue Cao, Yongsheng Yuan, Heng Zhang, Aidi Shan, Mengxi Gao, Kezhong Zhang
BACKGROUND: Dysfunction of the primary motor cortex, participating in regulation of posture and gait, is implicated in freezing of gait (FOG) in Parkinson's disease (PD). OBJECTIVE: The aim was to reveal the mechanisms of "OFF-period" FOG (OFF-FOG) and "levodopa-unresponsive" FOG (ONOFF-FOG) in PD. METHODS: We measured the transcranial magnetic stimulation (TMS) indicators and gait parameters in 21 healthy controls (HCs), 15 PD patients with ONOFF-FOG, 15 PD patients with OFF-FOG, and 15 PD patients without FOG (Non-FOG) in "ON" and "OFF" medication conditions...
August 30, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/37641392/cerebellar-modulation-of-sensorimotor-associative-plasticity-is-impaired-in-cervical-dystonia
#19
JOURNAL ARTICLE
Kai Grimm, Lisa Prilop, Gerhard Schön, Mathias Gelderblom, Jonas Misselhorn, Christian Gerloff, Simone Zittel
BACKGROUND: In recent years, cervical dystonia (CD) has been recognized as a network disorder that involves not only the basal ganglia but other brain regions, such as the primary motor and somatosensory cortex, brainstem, and cerebellum. So far, the role of the cerebellum in the pathophysiology of dystonia is only poorly understood. OBJECTIVE: The objective of this study was to investigate the role of the cerebellum on sensorimotor associative plasticity in patients with CD...
August 28, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/37638533/nuclear-imaging-data-driven-classification-of-parkinson-s-disease
#20
JOURNAL ARTICLE
Tomoko Totsune, Toru Baba, Yoko Sugimura, Hideki Oizumi, Hiroyasu Tanaka, Toshiaki Takahashi, Masaru Yoshioka, Ken-Ichi Nagamatsu, Atsushi Takeda
BACKGROUND: Parkinson's disease (PD) is a heterogeneous neurodegenerative disorder characterized by motor and nonmotor symptoms. Several features have prognostic importance and have been used as key indicators for identifying clinical subtypes. However, the symptom-based classification approach has limitations with respect to the stability of the obtained subtypes. OBJECTIVES: The purpose of this study was to identify subtypes of PD using nuclear imaging biomarkers targeting the cardiac sympathetic nervous and nigro-striatal systems and to compare patterns of cortical morphological change among obtained subtypes...
August 28, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
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