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Journal Parkinsonism Relat Disord

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Parkinsonism and iron deposition in two adult patients with L-2-hydroxiglutaric aciduria.

Maria João Malaquias, Diogo Costa, Eduarda Pinto, Gonçalo Videira, Jorge Oliveira, João Parente Freixo, Laura Vilarinho, Marina Magalhães,

L-2-hydroxiglutaric aciduria (L2HGA) is a rare, childhood-onset, organic aciduria, with characteristic clinical (cerebellar ataxia) and neuroimaging (subcortical leukodystrophy) features. Movement disorders in this condition are usually of hyperkinetic type. Herein is reported the case of two adult siblings with recent L2HGA diagnosis, presenting with dopa-responsive parkinsonism and MRI iron deposition. ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, 86:45-47]

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Frequency of mutations in PRKN, PINK1, and DJ1 in Patients With Early-Onset Parkinson Disease from neighboring countries in Central Europe.

Łukasz M Milanowski, Jennifer A Lindemann, Dorota Hoffman-Zacharska, Alexandra I Soto-Beasley, Maria Barcikowska, Magdalena Boczarska-Jedynak, Angela Deutschlander, Gabriela Kłodowska, Jarosław Dulski, Lyuda Fedoryshyn, Andrzej Friedman, Zygmunt Jamrozik, Piotr Janik, Katherine Karpinsky, Dariusz Koziorowski, Anna Krygowska-Wajs, Barbara Jasińska-Myga, Grzegorz Opala, Anna Potulska-Chromik, Aleksander Pulyk, Irena Rektorova, Yanosh Sanotsky, Joanna Siuda, Jarosław Sławek, Katarzyna Śmiłowska, Lech Szczechowski, Monika Rudzińska-Bar, Ronald L Walton, Owen A Ross, Zbigniew K Wszolek,

Approximately 10% of patients with Parkinson disease (PD) present with early-onset disease (EOPD), defined as diagnosis before 50 years of age. Genetic factors are known to contribute to EOPD, with most commonly observed mutations in PRKN, PINK1, and DJ1 genes. The aim of our study was to analyze the frequency ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, 86:48-51]

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Effect of dopaminergic medication on adenosine 2A receptor availability in patients with Parkinson's disease.

Imran Waggan, Eero Rissanen, Jouni Tuisku, Markus Matilainen, Semi Helin, Riitta Parkkola, Juha O Rinne, Laura Airas,

<h4>Objective</h4>To assess the necessity of withdrawing dopaminergic medication in Parkinson's disease (PD) patients for accurate estimation of adenosine 2A receptor (A<sub>2A</sub>R) availability using [<sup>11</sup>C]TMSX PET imaging. This was accomplished by studying the short-term effect of the cessation of dopaminergic medication on A<sub>2A</sub>R availability in non-dyskinetic patients with PD treated with ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, 86:40-44]

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Thalamic volume mediates associations between cardiorespiratory fitness (VO2max) and cognition in Parkinson's disease.

Andrew J Petkus, Behnaz Jarrahi, Daniel P Holschneider, Megan E Gomez, J Vincent Filoteo, Dawn M Schiehser, Beth E Fisher, John D Van Horn, Michael W Jakowec, Sarah C McEwen, Giselle Petzinger,

<h4>Introduction</h4>Cognitive deficits occur in Parkinson's disease (PD). Cardiorespiratory fitness (CRF) is associated with better cognitive performance in aging especially in executive function (EF) and memory. The association between CRF and cognitive performance is understudied in people with PD. Brain structures underlying associations also remains unknown. This cross-sectional study examined the ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, 86:19-26]

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Fatigue in hypokinetic, hyperkinetic, and functional movement disorders.

Ilaria Antonella Di Vico, Giovanni Cirillo, Alessandro Tessitore, Mattia Siciliano, Massimo Venturelli, Cristian Falup-Pecurariu, Gioacchino Tedeschi, Francesca Morgante, Michele Tinazzi,

The emerging science of fatigue has soundly endorsed the need for its unified definition, shared terminology and increased recognition in neurological illnesses. Nevertheless, the real impact of fatigue remains under-recognized. Fatigue describes a sense of tiredness, lack of energy or need for increased effort often perceived as overwhelming, pervasive, and ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, :]

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People with Parkinson's report increased impulse control behaviours during the COVID-19 UK lockdown.

Elizabeth Yule, Jade S Pickering, Jennifer McBride, Ellen Poliakoff,

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, 86:38-39]

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Deep brain stimulation outcomes in the malignant end of Parkinson's disease spectrum.

Carlo Alberto Artusi, Alberto Romagnolo, Gabriele Imbalzano, Elisa Montanaro, Maurizio Zibetti, Mario Giorgio Rizzone, Leonardo Lopiano,

<h4>Background</h4>Heterogeneity of Parkinson's Disease (PD) phenotype may influence deep brain stimulation (DBS) outcome. However, DBS response in the malignant end of the PD spectrum has been poorly investigated.<h4>Objective</h4>To evaluate and compare DBS outcomes in malignant and benign PD patients, defined according to motor and non-motor symptom presentation at the presurgical ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, 86:5-9]

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Hippocampal and insula volume in mild cognitive impairment with Lewy bodies.

Michael J Firbank, Rory Durcan, John T O'Brien, Louise M Allan, Sally Barker, Joanna Ciafone, Paul C Donaghy, Calum A Hamilton, Sarah Lawley, Gemma Roberts, John-Paul Taylor, Alan J Thomas,

<h4>Introduction</h4>Diagnostic criteria for prodromal dementia with Lewy bodies have recently been published. These include the use of imaging biomarkers to distinguish mild cognitive impairment with Lewy bodies (MCI-LB) from MCI due to other causes. Two potential biomarkers listed, though not formally included in the diagnostic criteria, due to insufficient evidence, ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, 86:27-33]

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Exploring three levels of interoception in people with functional motor disorders.

Lucia Ricciardi, Veronica Nisticò, Elisa Andrenelli, Joana Macedo Cunha, Benedetta Demartini, Louise P Kirsch, Laura Crucianelli, Mahinda Yogarajah, Francesca Morgante, Aikaterini Fotopoulou, Mark J Edwards,

<h4>Introduction</h4>A three-level model of interoception has recently been defined. We aim to study the interoceptive processing in individuals with functional motor disorder (FMD).<h4>Methods</h4>Twenty-two patients with FMD were compared to 23 healthy controls. They underwent a protocol measuring different levels of interoception including: accuracy (a heart-beat tracking task), awareness (participant's confidence ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, 86:15-18]

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Effects of COVID -19 pandemic and lockdown on people with multiple system atrophy participating in a therapeutic education program

Ana Cámara, Yaroslau Compta, Alexandra Pérez-Soriano, Núria Montagut, Laura Maragall, Emma Ludeña, Alícia Garrido, Cèlia Painous, Almudena Sánchez-Gómez, Anna Grau, Esteban Muñoz, Francesc Valldeoriola, María-José Martí, Noemí Fernández, Susana Villote, Montserrat Baixauli, Lluís Peri-Cusi, Juan Carlos Lopez de los Reyes, Maribel Ahuir, Núria Caballol, Mariateresa Buongiorno, Claustre Pont-Sunyer, Víctor Puente, Darly M. Giraldo, Oriol de Fabregues, María Lombraña,

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, :]

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Dysphagia in multiple system atrophy consensus statement on diagnosis, prognosis and treatment.

Giovanna Calandra-Buonaura, Enrico Alfonsi, Luca Vignatelli, Eduardo E Benarroch, Giulia Giannini, Alex Iranzo, Phillip A Low, Paolo Martinelli, Federica Provini, Niall Quinn, Eduardo Tolosa, Gregor K Wenning, Giovanni Abbruzzese, Pamela Bower, Angelo Antonini, Kailash P Bhatia, Jacopo Bonavita, Maria Teresa Pellecchia, Nicole Pizzorni, François Tison, Imad Ghorayeb, Wassilios G Meissner, Tetsutaro Ozawa, Claudio Pacchetti, Nicolò Gabriele Pozzi, Claudio Vicini, Antonio Schindler, Pietro Cortelli, Horacio Kaufmann,

Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by a combination of autonomic failure plus cerebellar syndrome and/or parkinsonism. Dysphagia is a frequent and disabling symptom in MSA and its occurrence within 5 years of motor onset is an additional diagnostic feature. Dysphagia can lead to aspiration pneumonia, a ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, :]

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Changes in prefrontal cortical activity and turning in response to dopaminergic and cholinergic therapy in Parkinson's disease: A randomized cross-over trial.

Rodrigo Vitorio, Samuel Stuart, Andrew Giritharan, Joseph Quinn, John G Nutt, Martina Mancini,

<h4>Introduction</h4>Cholinergic dysfunction contributes to mobility deficits in Parkinson's disease (PD). People with PD rely on limited prefrontal executive-attentional resources for the control of locomotion, including turning. Cortical and behavioral responses to cholinergic augmentation during turning remains unclear. We examined prefrontal cortex (PFC) activity while turning-in-place and spatiotemporal measures of turns ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, 86:10-14]

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Effects of angiotensin type 1 receptor antagonists on Parkinson's disease progression: An exploratory study in the PPMI database.

Lucas Udovin, Matilde Otero-Losada, Sofia Bordet, Guenson Chevalier, Cecilia Quarracino, Francisco Capani, Santiago Pérez-Lloret,

<h4>Introduction</h4>We explored the potential clinical effects of angiotensin-II AT1 receptor blockers (ARBs) and angiotensin-converting enzyme inhibitors (ACEIs) in patients from the Parkinson's Progress Marker Initiative (PPMI) study database.<h4>Methods</h4>We included 423 newly diagnosed PD patients, free from antiparkinsonian treatment, from the PPMI. We compared the proportion of patients starting on l-DOPA ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, 86:34-37]

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Editorial: Inclusion, equity, diversity and social justice in movement disorders research.

Janis M Miyasaki, Thien Thien Lim, Roongroj Bhidayasiri,

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, :]

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Involuntary moaning in a Hispanic family with eight affected members.

Maria Gisatulin, Malco Rossi, Claudia Perandones, Christine Klein, Katja Lohmann, Marcelo Merello,

Involuntary moaning has been reported in sporadic cases of neurodegenerative diseases. A five-generation Hispanic family with eight members exhibiting involuntary moaning, most of whom with isolated moaning in the absence of any additional neurological disorder carried a missense variant in the NEFH gene segregating in the family. ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, :]

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Peribuccal and pharyngeal myorhythmia as a presenting symptom of hypertrophic olivary degeneration: Expert commentary.

Robert Chen,

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, :]

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Analysis of nationwide multimodal complex treatment and drug pump therapy in Parkinson's disease in times of COVID-19 pandemic in Germany.

Daniel Richter, Raphael Scherbaum, Dirk Bartig, Ralf Gold, Christos Krogias, Lars Tönges,

During the first peak phase of the COVID-19 pandemic, the German Ministry of Health recommended that elective treatments should be postponed to increase hospital capacities. This has also compromised the capacity for application of specialized Parkinson's disease (PD) therapies to an unknown extent. We conducted a nationwide cross-sectional study using ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, 85:109-113]

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Automated assessment of the substantia nigra on susceptibility map-weighted imaging using deep convolutional neural networks for diagnosis of Idiopathic Parkinson's disease.

Dong Hoon Shin, Hwan Heo, Soohwa Song, Na-Young Shin, Yoonho Nam, Sang-Won Yoo, Joong-Seok Kim, Jung Han Yoon, Seon Heui Lee, Young Hee Sung, Eung Yeop Kim,

<h4>Objectives</h4>Despite its use in determining nigrostriatal degeneration, the lack of a consistent interpretation of nigrosome 1 susceptibility map-weighted imaging (SMwI) limits its generalized applicability. To implement and evaluate a diagnostic algorithm based on convolutional neural networks for interpreting nigrosome 1 SMwI for determining nigrostriatal degeneration in idiopathic Parkinson's disease (IPD).<h4>Methods</h4>In ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, 85:84-90]

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Cortical microstructural correlates of plasma neurofilament light chain in Huntington's disease.

Frederic Sampedro, Jesus Pérez-Pérez, Saul Martínez-Horta, Rocío Pérez-González, Andrea Horta-Barba, Antonia Campolongo, Cristina Izquierdo, Javier Pagonabarraga, Beatriz Gómez-Ansón, Jaime Kulisevsky,

<h4>Introduction</h4>Huntington's disease (HD) is a severe neurodegenerative disorder with no effective treatment. Minimally-invasive biomarkers such as blood neurofilament light chain (NfL) in HD are therefore needed to quantitatively characterize neuronal loss. NfL levels in HD are known to correlate with disease progression and striatal atrophy, but whether they also reflect ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, 85:91-94]

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Prefrontal network dysfunctions in rapid eye movement sleep behavior disorder.

Noritaka Wakasugi, Hiroki Togo, Yohei Mukai, Noriko Nishikawa, Takashi Sakamoto, Miho Murata, Yuji Takahashi, Hiroshi Matsuda, Takashi Hanakawa,

<h4>Introduction</h4>Resting-state functional connectivity magnetic resonance imaging (rsfcMRI) of rapid eye movement (REM) sleep behavior disorder (RBD) may provide an early biomarker of α-synucleinopathy. However, few rsfcMRI studies have examined cognitive networks. To elucidate brain network changes in RBD, we performed rsfcMRI in patients with polysomnography-confirmed RBD and healthy controls (HCs), ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, 85:72-77]

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White matter hyperintensities mediate the impact of amyloid ß on future freezing of gait in Parkinson's disease.

Mahsa Dadar, Janis Miyasaki, Simon Duchesne, Richard Camicioli,

<h4>Background</h4>Freezing of gait (FOG) is a common symptom in Parkinson's Disease (PD) patients. Previous studies have reported relationships between FOG, substantia nigra (SN) degeneration, dopamine transporter (DAT) concentration, as well as amyloid β deposition. However, there is a paucity of research on the concurrent impact of white matter damage.<h4>Objectives</h4>To assess ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, 85:95-101]

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Quantitative evaluation of oculomotor disturbances in progressive supranuclear palsy.

Javier Pagonabarraga, Andrea Horta-Barba, Laura Busteed, Helena Bejr-Kasem, Ignacio Illán-Gala, Ignacio Aracil-Bolaños, Juan Marín-Lahoz, Berta Pascual-Sedano, Jesús Pérez, Antonia Campolongo, Cristina Izquierdo, Saul Martinez-Horta, Frederic Sampedro, Jaime Kulisevsky,

<h4>Objectives</h4>To explore and quantify systematically the ocular abnormal movements present in progressive supranuclear palsy (PSP) from the early stages, to assess the ability of this standardized examination in the differential diagnosis of PSP from Parkinson's disease (PD), and to compare in more detail oculomotor disturbances between PSP variants.<h4>Methods</h4>Sixty-five consecutive PSP ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, 85:63-68]

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Rest tremor correlates with reduced contralateral striatal dopamine transporter binding in Parkinson's disease.

Alessandro F Fois, Florence Cf Chang, Robert Barnett, Kevin London, Neil Mahant, Ainhi Ha, Zakiyah Aldaajani, Belinda Cruse, Hugo Morales-Briceno, Kit Kwan Ma, David Farlow, Victor Sc Fung,

<h4>Introduction</h4>In vivo dopamine transporter imaging is a useful tool for distinguishing nigrostriatal pathologies (e.g. Parkinson's disease) from other causes of tremor. However, while many of the motoric features of Parkinson's disease (e.g. bradykinesia, rigidity, hypomimia) correlate well with reduced striatal dopamine transporter binding, the same relationship has not been demonstrated ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, 85:102-108]

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Evolving resting head tremor in parkinsonism: Clinicopathological study of a case.

Ali H Rajput, Aisha A Khayyam, Roland N Auer, Christopher A Robinson, Alex Rajput,

<h4>Introduction</h4>Resting limb tremor (RLT) is a well known feature in parkinsonism. There is very little information on resting head tremor (RHT) in parkinsonism, and none in pathologically confirmed cases. The association between RLT and RHT remains uncertain.<h4>Methods</h4>A Caucasian male developed upper limb tremor and voice changes at age 70. He ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, 86:1-4]

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The final diagnoses of patients with clinically suspected atypical parkinsonian syndromes.

Alexander Rau, Jiri Koschel, Karl Egger, Wolfgang H Jost,

We report on 189 patients who were evaluated for APS. Final diagnoses included 77 cases of PSP, 32 patients with MSA and 11 patients with CBS. 35 patients were diagnosed or confirmed with iPD, while in 26 cases a differentiation between iPD and APS could not be definitely made. ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, 85:57-58]

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