Negative α-synuclein pathology in the submandibular gland of patients carrying PRKN pathogenic variants
In this study, we evaluated peripheral AS pathology in the SMG biopsy of patients with PRKN pathogenic variants. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 6, 2020 Category: Neurology Authors: Jung Hwan Shin, Sung-Hye Park, Chaewon Shin, Ji-hoon Kim, Tae Jin Yun, Han-Joon Kim, Beomseok Jeon Tags: Short communication Source Type: research

Caregiver burden worsens in the second year after subthalamic nucleus deep brain stimulation for Parkinson's disease
Caregiver burden (CB) in Parkinson's disease (PD) does not improve in the short term after bilateral subthalamic nucleus (STN) deep brain stimulation (DBS), despite motor improvement. This may be due to increased caregiver demands after surgery or the possibility that DBS unresponsive non-motor factors, such as executive dysfunction, contribute to CB. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 4, 2020 Category: Neurology Authors: Eric Jackowiak, Amanda Cook Maher, Carol Persad, Vikas Kotagal, Kara Wyant, Amelia Heston, Parag G. Patil, Kelvin L. Chou Source Type: research

BDNF levels and nigrostriatal degeneration in “drug naïve” Parkinson's disease patients. An “in vivo” study using I-123-FP-CIT SPECT
Parkinson's Disease (PD) is a common neurodegenerative disorder, characterized by a progressive loss of dopaminergic neurons and whose cause remains unclear. Brain-Derived Neurotrophic factor (BDNF) is a protein involved in dopaminergic cells survival. Previous studies have shown decreased serum BDNF levels in PD patients. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 4, 2020 Category: Neurology Authors: J. Hern ández-Vara, N. Sáez-Francàs, C. Lorenzo-Bosquet, M. Corominas-Roso, G. Cuberas-Borròs, Pozo S. Lucas-Del, S. Carter, M. Armengol-Bellapart, J. Castell-Conesa Source Type: research

Atypical clinical presentation of pathologically proven Parkinson's disease: The role of Parkinson's disease related metabolic pattern
Regional changes in brain metabolism upgraded with measurements of specific metabolic brain patterns and automated diagnostic algorithms can help to differentiate among neurodegenerative parkinsonisms, but with few reports on pathological confirmation. Here we describe a parkinsonian patient with atypical presentation and 18F-FDG-PET imaging consistent with idiopathic Parkinson's disease. The latter was confirmed at the pathohistological examination. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 3, 2020 Category: Neurology Authors: Toma ž Rus, Petra Tomše, Luka Jensterle, Luka Ležaić, Clara Limbäck Stokin, Mara Popović, Chris C. Tang, David Eidelberg, Zvezdan Pirtošek, Maja Trošt Tags: Correspondence Source Type: research

The footprint of orthostatic hypotension in parkinsonian syndromes
Orthostatic hypotension (OH) is characterized by a sustained blood pressure (BP) fall within 3 minutes upon standing [1] and is associated with frequent falls, increased morbidity and mortality in the elderly population [2]. Being a common non-motor feature of parkinsonian disorders [3], OH may aggravate motor impairment and increase the risk of falls in these patients as well [4,5]. In this proof-of-concept study, we investigated the relationship between gait performance and OH in patients with Parkinson's disease (PD) and the parkinsonian variant of multiple system atrophy (MSA-P), by applying an instrumented gait analys...
Source: Parkinsonism and Related Disorders - July 2, 2020 Category: Neurology Authors: Cecilia Raccagni, Victoria Sidoroff, Georg Goebel, Roberta Granata, Fabian Leys, Jochen Klucken, Bjoern Eskofier, Robert Richer, Klaus Seppi, Gregor K. Wenning, Alessandra Fanciulli Tags: Correspondence Source Type: research

Vada maker's dystonia – A new task-specific focal dystonia
Task-specific dystonia (TSD) is an isolated focal dystonia which is displayed only during the performance of a particular skilled motor task. TSD encompasses loss of motor control confined to a specific motor skill. In some even the thought of performing the concerned motor task initiates a dystonic posturing. Pain is usually not a dominant feature of TSD and fluctuations in symptoms are common though remissions are rare. The most common types of TSD are writer's cramp, musicians' dystonia, and dystonia in upper limbs related to sports and occupation. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 1, 2020 Category: Neurology Authors: Ajith Cherian, K.P. Divya Tags: Correspondence Source Type: research

The probable REM sleep behavior disorder negatively affects health-related quality of life in Parkinson's disease with bilateral subthalamic nucleus stimulation
The aim of this study was to compare the short- and long-term outcomes of bilateral subthalamic nucleus deep brain stimulation (STN-DBS) in Parkinson's disease (PD) patients with and without probable REM sleep behavior disorder (RBD). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 1, 2020 Category: Neurology Authors: Sangmin Park, Ryul Kim, Jung Hwan Shin, Han-Joon Kim, Sun Ha Paek, Beomseok Jeon Tags: Short communication Source Type: research

Expanding phenomenologic heterogeneity of tardive Syndromes:Time for an updated assessment tool
Tardive syndromes (TDS) are a group of hyperkinetic and hypokinetic movement disorders that occurs after exposure to dopamine receptor blocking agents such as antipsychotic and antiemetic drugs. The Abnormal Involuntary Movement Scale (AIMS) is a widely used instrument that has become the standard for assessment of tardive dyskinesia (TDD), the most common form of TDS. However, the AIMS has a number of clinimetric limitations and was designed primarily to assess the anatomic distribution and severity of involuntary movements without regard to phenomenology. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 30, 2020 Category: Neurology Authors: Roongroj Bhidayasiri, John M. Kane, Karen P. Frei, Stanley N. Caroff, Christoph U. Correll, Stanley Fahn, Joseph Jankovic, Robert A. Hauser, Daniel D. Truong Tags: Point of view Source Type: research

Does increased forefoot load contribute to freezing of gait in Parkinson's disease? A clinical observation
Freezing of gait (FOG) is a disabling, episodically occurring symptom in patients with advanced Parkinson's disease (PD) and atypical parkinsonian syndromes. FOG is typically triggered by gait initiation, turning, passing through narrow paths such as doorways and reaching a destination. Although medication, deep brain stimulation and non-pharmacological strategies such as cueing may be helpful in some patients, therapeutic options are limited. The phenomenology and pathophysiology is still not fully understood. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 29, 2020 Category: Neurology Authors: Markus A. Hobert, Walter Maetzler, Christian Schlenstedt Tags: Correspondence Source Type: research

Cannabis in patients with Parkinson's disease in Argentina. A cross sectional study
We made an observational cross-sectional study to evaluate the prevalence of cannabis use, characteristics and results perceived by a group of PD patients. Semi-structured questionnaire was applied to patients. Until obtaining more information we suggest to incorporate into regular medical practice the question about the use of cannabis. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 29, 2020 Category: Neurology Authors: Federico Eduardo Micheli, Javier Groppo, Mar ía Laura Contartese, Pablo Gustavo Baccaglio, Leandro Nicolás Borisonik, Cristina Lakos, Juan Pablo Barros, Ricardo Pablo Maiola, Tomoko Arakaki, Nélida Susana Garretto, Rolando Juvenal Giannaula, María Cri Tags: Correspondence Source Type: research

Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier
Mutations in the RHOBTB2 gene (MIM: 607,352) have recently been associated with neurodevelopmental abnormalities, infantile-onset epileptic encephalopathy with various seizure types, intellectual disabilities, postnatal microcephaly with minor facial dysmorphia, and choreic or dystonic syndromes of paroxysmal nature [1,2]. Here we present a patient with a recurrent RHOBTB2 mutation who had severe paroxysmal choreodystonia and aplasia cutis congenita (ACC), a feature that has not yet been described in association with RHOBTB2 variants, but no epilepsy. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 29, 2020 Category: Neurology Authors: J án Necpál, Michael Zech, Alica Valachová, Šárka Bendová, Miroslava Hančárová, Katarína Okáľová, Juliane Winkelmann, Robert Jech Tags: Correspondence Source Type: research

Movement disorders rounds: Atypical cases in two Chinese families with novel variants in ATP1A3
ATP1A3-related dystonia is a clinical syndrome with high genetic heterogeneity. Rapid-Onset Dystonia Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC) and CAPOS (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss) syndrome have been reported to be related to ATP1A3 gene mutations [1]. Here, we describe two pedigrees carring two de-nove ATP1A3 variants with RDP-CAPOS overlapping phenotype or continuous hemidystonia. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 28, 2020 Category: Neurology Authors: Xin-yao Li, Yue-hui Hong, Shang-lin Li, Lin Wang, Xin-hua Wan Source Type: research

Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia
The gene encoding myelin-associated glycoprotein (MAG) has been implicated in autosomal-recessive spastic paraplegia type 75. To date, only four families with biallelic missense variants in MAG have been reported. The genotypic and phenotypic spectrum of MAG-associated disease awaits further elucidation. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 28, 2020 Category: Neurology Authors: Michael Zech, Theresa Brunet, Matej Škorvánek, Astrid Blaschek, Katharina Vill, Britta Hanker, Irina Hüning, Vladimír Haň, Petra Došekova, Zuzana Gdovinová, Bader Alhaddad, Riccardo Berutti, Tim M. Strom, Evžen Růžička, Erik-Jan Kamsteeg, Jaspe Tags: Short communication Source Type: research

Long-term evaluation of open-label pimavanserin safety and tolerability in Parkinson's disease psychosis
Pimavanserin is a selective 5-HT2A inverse agonist/antagonist approved for treating hallucinations and delusions associated with Parkinson's disease psychosis (PDP). Results from short-term, placebo-controlled studies demonstrated a positive benefit/risk profile. This multi-year, open-label study assessed long-term safety and tolerability of pimavanserin. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 28, 2020 Category: Neurology Authors: Clive G. Ballard, David L. Kreitzman, Stuart Isaacson, I-Yuan Liu, James C. Norton, George Demos, Hubert H. Fernandez, Tihomir V. Ilic, Jean-Philippe Azulay, Joaquim J. Ferreira, Victor Abler, Srdjan Stankovic, for the 015 Study Group Source Type: research

Deep brain stimulation lead removal in Tourette syndrome
Tourette syndrome (TS) is a complex neuropsychiatric disorder. A small percentage of individuals with TS will persist to experience severe, refractory, and impairing tics. Deep brain stimulation (DBS) has been increasingly used for symptom management especially in these settings. In this article, we aim to evaluate the rate and reasons for removal or explantation of DBS hardware in TS patients. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 24, 2020 Category: Neurology Authors: Wissam Deeb, Albert F.G. Leentjens, Alon Y. Mogilner, Domenico Servello, Fangang Meng, Jianguo Zhang, Tommaso Francesco Galbiati, Michael S. Okun Source Type: research

Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome
Perry syndrome (PS), also recognized as Perry disease, is a rare autosomal dominant neurodegenerative disorder featuring midlife-onset atypical parkinsonism, apathy or depression, respiratory failure, and weight loss [1], which is caused by mutations in exon 2 of DCTN1 gene on chromosome 2p13.1. Eight pathogenic missense mutations (c.156T  > G, c.200G > A, c.211G > A, c.212G > A, c.212G > C, c.214A > C, c.221A > C, and c.233A > G, encoding p.F52L, p.G67D, p.G71R, p.G71E, p.G71A, p.T72P, p.Q74P, and p.Y78C, respectively) have been reported to date [1]. (Source: Parkins...
Source: Parkinsonism and Related Disorders - June 24, 2020 Category: Neurology Authors: Cierny Marek, Hooshmand Sam, Fee Dominic, Tripathi Swarnendu, Nikita R. Dsouza, La Pean Kirschner Alison, Michael T. Zimmermann, Brennan Ryan Tags: Short communication Source Type: research

Medical management of myoclonus-dystonia and implications for underlying pathophysiology
Myoclonus-dystonia is an early onset genetic disorder characterised by subcortical myoclonus and less prominent dystonia. Its primary causative gene is the epsilon-sarcoglycan gene but the syndrome of “myoclonic dystonia” has been shown to be a heterogeneous group of genetic disorders. The underlying pathophysiology of myoclonus-dystonia is incompletely understood, although it may relate to dysfunction of striatal monoamine neurotransmission or disruption of cerebellothalamic networks (possib ly via a GABAergic deficit of Purkinje cells). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 23, 2020 Category: Neurology Authors: Conor Fearon, Kathryn J. Peall, Marie Vidailhet, Alfonso Fasano Tags: Review article Source Type: research

Life expectancy of parkinsonism patients in the general population
This study aimed to determine the absolute life expectancy of patients newly-diagnosed with parkinsonism. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 23, 2020 Category: Neurology Authors: Lisanne J. Dommershuijsen, Alis Heshmatollah, Sirwan K.L. Darweesh, Peter J. Koudstaal, M. Arfan Ikram, M. Kamran Ikram Source Type: research

A wearable tool for selective and continuous monitoring of tremor and dyskinesia in Parkinsonian patients
The assessment of Parkinson's disease (PD) progression is essentially clinical and typically based on performing neurological examinations and motor tests [1]; particularly, the current gold standard for the evaluation of motor performances and impairments include the use of the information provided by the patient and rating scales. However, patients self-reporting is not always reliable, and clinical rating scales are typically subjective, so the time-limited duration of the above mentioned clinical examinations may typically fail to capture daily fluctuations in PD motor symptoms. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 23, 2020 Category: Neurology Authors: Luigi Battista, Antonietta Romaniello Tags: Correspondence Source Type: research

Cognitive and behavioral profile of Perry syndrome in two families
In this study, the neuropsychological profile of individuals from one Polish and one Colombian family are presented. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 22, 2020 Category: Neurology Authors: Lukasz Milanowski, Emilia J. Sitek, Jaroslaw Dulski, Catalina Cerquera-Cleves, Juan D. Gomez, Bogna Brockhuis, Michal Schinwelski, Klaudia Kluj-Kozlowska, Owen A. Ross, Jaroslaw Slawek, Zbigniew K. Wszolek Source Type: research

DaTSCAN (123I-FP-CIT SPECT) imaging in early versus mid and late onset Parkinson's disease: Longitudinal data from the PPMI study
It has been reported that early onset Parkinson's Disease (PD) patients have a less profound dopaminergic degeneration. The aim of the current study was to determine whether there are longitudinal differences in dopaminergic denervation [signal reduction in 123I-FP-CIT SPECT] in early versus mid and late onset PD. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 22, 2020 Category: Neurology Authors: Christos Koros, Athina-Maria Simitsi, Andreas Prentakis, Nikolaos Papagiannakis, Anastasia Bougea, Ioanna Pachi, Dimitra Papadimitriou, Ion Beratis, Sokratis G. Papageorgiou, Maria Stamelou, Xenia Geronicola Trapali, Leonidas Stefanis Source Type: research

Novel decision algorithm to discriminate parkinsonism with combined blood and imaging biomarkers
To determine an exploratory multimodal approach including serum NFL and MR planimetric measures to discriminate Parkinson's disease (PD), multiple system atrophy (MSA) and progressive supranuclear palsy (PSP). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 21, 2020 Category: Neurology Authors: Stephanie Mangesius, Sara Mariotto, Sergio Ferrari, Sergiy Pereverzyev, Hannes Lerchner, Lukas Haider, Elke R. Gizewski, Gregor Wenning, Klaus Seppi, Markus Reindl, Werner Poewe Source Type: research

GBA variation and susceptibility to multiple system atrophy
Genetic variants in the glucocerebrosidase (GBA) gene have been previously associated with susceptibility to synucleinopathies. The risk is well-established in Lewy body disease but is not as confirmed for multiple system atrophy (MSA). We aim to evaluate associations between exonic variants in GBA and risk of neuropathologically-confirmed multiple system atrophy (MSA). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 21, 2020 Category: Neurology Authors: Anna I. Wernick, Ronald L. Walton, Shunsuke Koga, Alexandra I. Soto-Beasley, Michael G. Heckman, Ziv Gan-Or, Yingxue Ren, Rosa Rademakers, Ryan J. Uitti, Zbigniew K. Wszolek, William P. Cheshire, Dennis W. Dickson, Owen A. Ross Source Type: research

From Mucuna Pruriens to deep brain stimulation: A two-decade case history
Levodopa, combined with a dopa decarboxylase inhibitor (DCCI), is the therapeutic mainstay in Parkinson's disease (PD). However, as PD progresses, levodopa associated motor and non-motor fluctuations may develop [1]. Five years after the initiation of levodopa therapy, 75% of patients may present with drug related complications, with troublesome fluctuations and dyskinesias occurring in more than half [1]. It has been reported that levodopa may be neurotoxic, but results from the LEAP trial did not support that concern and suggested that levodopa did not have a positive or negative disease modifying effect [2]. (Source: Pa...
Source: Parkinsonism and Related Disorders - June 21, 2020 Category: Neurology Authors: Jason Margolesky, Danielle S. Shpiner, Henry Moore, Carlos Singer, Jonathan Jagid, Corneliu C. Luca Tags: Correspondence Source Type: research

Progressive and accelerated weight and body fat loss in Parkinson's disease: A three-year prospective longitudinal study
Although weight loss is common in Parkinson's disease (PD), longitudinal studies assessing weight and body composition changes are limited. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 19, 2020 Category: Neurology Authors: Voon Wei Yong, Yan Jing Tan, Yi-De Ng, Xing Yan Choo, Kavita Sugumaran, Karuthan Chinna, Mohammad Nazri Md Shah, Raja Rizal Azman Raja Aman, Foong Ming Moy, Norlisah Mohd Ramli, Mathis Grossmann, Shen-Yang Lim, Ai Huey Tan Source Type: research

ATP1A3 mutation presenting as CAPOS syndrome + dystonia phenotype
We report a CAPOS syndrome patient with prominent dystonia especially involving the facio-lingual re gion, expanding the phenotypic spectrum. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 17, 2020 Category: Neurology Authors: Anjali Chouksey, Sanjay Pandey Source Type: research

May Parkinson's disease be a protective factor against CNS involvement by SARS-CoV2?
We read with great interest the manuscript by Antonini and collaborators on the relationship of Parkinson's disease (PD) and Covid infection19. However, regarding the not yet well-defined relationship between these two diseases, we have developed the hypothesis that PD can hinder the virus's access to the central nervous system. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 17, 2020 Category: Neurology Authors: F. Spina Tensini, T. Spina Tensini, G.L. Franklin, H.A.G. Teive Tags: Correspondence Source Type: research

A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism
Mutations in presenilin-1 (PSEN1) account for the majority of cases of familial autosomal dominant early-onset Alzheimer's disease (AD) as well as in sporadic forms. Atypical presentations are reported including extrapyramidal signs. In the last years, a pleiotropic effect of some PSEN1 variants has been reported in Parkinson's disease (PD). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 16, 2020 Category: Neurology Authors: Emilia M. Gatto, Galeno J. Rojas, Sergio I. Nemirovsky, Gustavo Da Prat, Gabriel Persi, Martin Cessarini, Jose L. Etcheverry, Natalia Gonzalez Rojas, Virginia Parisi, Marta Cordoba, Gustavo Sevlever, Ricardo F. Allegri, Adrian G. Turjansky Tags: Short communication Source Type: research

Cerebrospinal fluid myelin basic protein is elevated in multiple system atrophy
Parkinson's disease (PD) and multiple system atrophy (MSA) have overlapping symptoms, challenging an early diagnosis. Diagnostic accuracy is important because PD and MSA have a different prognosis and response to treatment. Here, we aimed to evaluate the diagnostic value of brain-specific structural proteins in cerebrospinal fluid (CSF) of PD and MSA patients, as well as their association with cognitive decline. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 15, 2020 Category: Neurology Authors: Anna Santaella, H. Bea Kuiperij, Anouke van Rumund, Rianne A.J. Esselink, Bastiaan R. Bloem, Marcel M. Verbeek Source Type: research

Medical education in movement disorders during the COVID-19 pandemic
The coronavirus disease 2019 (COVID ‐19) has presented widespread challenges for physicians and fundamentally altered how patient care and research are conducted. Importantly, COVID-19 has also significantly impacted the medical education of trainees [1,2]. We discuss the application of available technology to continue medical educa tion of trainees in movement disorders, as well as educating trainees in how to deliver exceptional patient care using this technology. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 15, 2020 Category: Neurology Authors: Jos é Rafael P. Zuzuárregui, Ian O. Bledsoe, Ethan G. Brown, Cameron G. Dietiker, Nicholas B. Galifianakis Tags: Correspondence Source Type: research

Isolated and combined genetic tremor syndromes: A critical appraisal based on the 2018 MDS criteria
The 2018 consensus statement on the classification of tremors proposes a two-axis categorization scheme based on clinical features and etiology. It also defines “isolated” and “combined” tremor syndromes depending on whether tremor is the sole clinical manifestation or is associated with other neurological or systemic signs. This syndromic approach provides a guide to investigate the underlying etiology of tremors, either genetic or acquired.Several genetic defects have been proven to cause tremor disorders, including autosomal dominant and recessive, X-linked, and mitochondrial diseases, as well as...
Source: Parkinsonism and Related Disorders - June 14, 2020 Category: Neurology Authors: Francesca Magrinelli, Anna Latorre, Bettina Balint, Melissa Mackenzie, Eoin Mulroy, Maria Stamelou, Michele Tinazzi, Kailash P. Bhatia Tags: Review article Source Type: research

Trends of inpatient palliative care use among hospitalized patients with Parkinson's disease
Palliative care in Parkinson's Disease (PD) is an effective intervention to improve quality of life, although historically, access and availability have been very restricted. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 13, 2020 Category: Neurology Authors: Daniel G. Di Luca, Matthew Feldman, Sopiko Jimsheleishvili, Jason Margolesky, Joacir Graciolli Cordeiro, Anthony Diaz, Danielle S. Shpiner, Henry P. Moore, Carlos Singer, Hua Li, Corneliu Luca Source Type: research

Author response to Wang et al. Blood neurofilament light chain in Parkinson's disease: A biological marker for prediction of cognitive impairment?
Thank you very much for giving us the opportunity to respond to the recently submitted Correspondence by Wang et al. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 10, 2020 Category: Neurology Authors: Jaime Kulisevsky Tags: Correspondence Source Type: research

Telemedicine for parkinsonism: A two-step model based on the COVID-19 experience in Milan, Italy
Since the first patient diagnosed with COVID-19 in Lombardy, Italy has become the third most affected country (>217.000 cases,>30.000 deaths) in the world, as of May 9th, 2020 [1]. Whereas the initial response strategy to COVID-19 aimed to contain its spread, policy makers are moving from containment ( ‘Phase One’) to mitigation (‘Phase Two’) by gradually lifting lockdown restrictions. This ‘Phase Two’ (which will probably last for 1 or 2 years) may be more dangerous than ‘Phase One’, because patients with chronic neurological diseases, such as Parkinson's disease (PD) ...
Source: Parkinsonism and Related Disorders - June 10, 2020 Category: Neurology Authors: Roberto Cilia, Francesca Mancini, Bastiaan R. Bloem, Roberto Eleopra Tags: Correspondence Source Type: research

Predictors of general and health-related quality of life in Parkinson's disease and related disorders including caregiver perspectives
Our understanding of the determinants of quality of life (QOL) in people living with Parkinson's disease and related disorders (PDRD) has grown remarkably in the past decade. However, several areas remain understudied including determinants of general vs. health-related QOL, determinants in high-need patients, drivers of perceptions of caregivers vs. patients, and exploration of potential determinants outside of the traditional medical model. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 9, 2020 Category: Neurology Authors: Ivan Trang, Maya Katz, Nicholas Galifianakis, Diane Fairclough, Stefan H. Sillau, Janis Miyasaki, Benzi M. Kluger Source Type: research

Pilates method improves balance control in Parkinson's disease patients: An open-label clinical trial
Parkinson's Disease (PD) is a progressive neurodegenerative disease, in which balance may be directly affected, as postural instability is a major determinant on the risk of falls, increasing patient's morbidity [1]. For this reason, strategies focused on balance improvement, like Pilates method, may be beneficial even in the early years of motor symptoms [2]. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 9, 2020 Category: Neurology Authors: David Pereira Maciel, Vivia Linhares Mesquita, Antonia Rosivalda Marinho, Glauber Menezes Ferreira, Ana Paula Abdon, Fernanda Martins Maia Tags: Correspondence Source Type: research

Early cognitive decline after bilateral subthalamic deep brain stimulation in Parkinson's disease patients with GBA mutations
Subthalamic nucleus deep brain stimulation (STN-DBS) has demonstrated its efficacy on motor complications in advanced Parkinson's disease (PD) but does not modify disease progression. Genetic forms of PD have been associated with different cognitive progression profiles. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 8, 2020 Category: Neurology Authors: Graziella Mangone, Samir Bekadar, Florence Cormier-Dequaire, Khadija Tahiri, Arlette Welaratne, Virginie Czernecki, Fanny Pineau, Carine Karachi, Anna Castrioto, Frank Durif, Christine Tranchant, David Devos, St éphane Thobois, Wassilios Meissner, Maria Source Type: research

Blood neurofilament light chain in Parkinson's disease: A biological marker for prediction of cognitive impairment?
This study showed that serum NfL levels were abnormally increased in de novo patients with PD relative to healthy controls. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 8, 2020 Category: Neurology Authors: HongZhou Wang, WanHua Wang, HaiCun Shi, LiJian Han Tags: Correspondence Source Type: research

Clinical phenotypes, genotypes and treatment in Chinese dystonia patients with KMT2B variants
KMT2B-related dystonia is a recently discovered hereditary dystonia that mostly occurs in childhood. This dystonia usually progresses to generalized dystonia with cervical, cranial, pharynx and larynx involvement. Our study summarizes genotype-phenotype features and deep brain stimulation (DBS) efficacy observed with KMT2B-related dystonia patients in China. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 8, 2020 Category: Neurology Authors: Xin-yao Li, Li-fang Dai, Xin-hua Wan, Yi Guo, Yi Dai, Shang-lin Li, Fang Fang, Xiao-hui Wang, Wei-hua Zhang, Ting-hong Liu, Zi-hang Xie, Tie Fang, Lin Wang, Chang-hong Ding Source Type: research

Motor outcomes and adverse effects of deep brain stimulation for dystonic tremor: A systematic review
The objective of this study is to provide an up-to-date systematic review of DBS outcomes for DT patients. We conducted a literature search using Medline, Embase, and Cochrane Library databases in February 2020 according to the PRISMA guidelines. From 858 publications, we identified 30 articles involving 89 DT patients who received DBS of different targets. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 8, 2020 Category: Neurology Authors: Takashi Tsuboi, Ka Loong Kelvin Au, Wissam Deeb, Leonardo Almeida, Kelly D. Foote, Michael S. Okun, Adolfo Ramirez-Zamora Tags: Review article Source Type: research

Effect of auditory, visual and somatosensory cueing strategies on On-State Freezing of Gait in Parkinson's disease
Freezing of Gait (FoG) in the On-state is typically refractory to drug therapy and is associated with increased risk of falls in Parkinson's disease (PD) [1,2]. Cueing may ameliorate FoG, however, there is limited evidence available on what is the most effective cueing modality for the mitigation of On-State FoG [3]. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 8, 2020 Category: Neurology Authors: Dean Sweeney, Gear óid ÓLaighin, Margaret Richardson, Pauline Meskell, Lois Rosenthal, Aimi McGeough, Anne-Louise Cunnington, Leo R. Quinlan Tags: Correspondence Source Type: research

Ataxia-myoclonus syndrome due to a novel homozygous ATP13A2 mutation
Kufor-Rakeb syndrome (KRS, MIM 606693), also known as PARK9-linked parkinsonism, is a juvenile-onset autosomal recessive levodopa-responsive parkinsonism associated with the clinical triad of spasticity, supranuclear gaze palsy and dementia [1]. Other features include dystonia, bulbar signs, facial-faucial-finger minimyoclonus, and visual/auditory hallucinations. Ataxia and seizures may also occur. KRS exhibits considerable clinical heterogeneity even among family members carrying the same mutation. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 6, 2020 Category: Neurology Authors: Giovanna De Michele, Daniele Galatolo, Maria Lieto, Tommasina Fico, Francesco Sacc à, Filippo M. Santorelli, Alessandro Filla Tags: Correspondence Source Type: research

Hypersensitivity to atypical antipsychotics in dementia with Lewy bodies: is it common or rare?
Hypersensitivity to antipsychotics is one of the known clinical features of dementia with Lewy bodies (DLB). The prevalence of hypersensitivity in DLB patients is known to be relatively high ranging from 30 to 50% [1]. Published in 2017, the revised diagnostic criteria for DLB suggested a reduction in the diagnostic usefulness of antipsychotic hypersensitivity [2,3]. Specifically, antipsychotic hypersensitivity is now listed as a supportive, rather than suggestive, clinical feature. This revision was due to the decrease in the use of typical antipsychotics such as dopamine receptor D2 antagonists [3,4]. (Source: Parkinsoni...
Source: Parkinsonism and Related Disorders - June 6, 2020 Category: Neurology Authors: Jung-Min Pyun, Young Ho Park, Jimin Yang, Nayoung Ryoo, SangYun Kim Tags: Correspondence Source Type: research

Gastrointestinal surgical procedures affect levodopa pharmacokinetics in Parkinson's disease
Several factors, including delayed gastric emptying, meal consumption, gastric acid secretion, and protein-rich diets, affect the absorption of levodopa, the gold-standard treatment modality for Parkinson's disease (PD) [1]. We have previously reported that cascade stomach, a stomach deformity, might affect levodopa pharmacokinetics [2]. In addition, levodopa malabsorption after pancreaticoduodenectomy in a patient with PD has been reported [3]. However, little is known about the association between gastrointestinal structures and levodopa pharmacokinetics, and only a few studies have clinically assessed levodopa pharmacok...
Source: Parkinsonism and Related Disorders - June 4, 2020 Category: Neurology Authors: Noriyuki Miyaue, Hayato Yabe, Masahiro Nagai, Masahiro Nomoto Tags: Correspondence Source Type: research

E-Rehabilitation: One solution for patients with Parkinson's disease in COVID-19 era
Neurorehabilitation is hampered due to social distancing and fear due to the chance of getting coronavirus disease, 2019 (COVID-19). Home-based or community-based and outpatient-based rehabilitation are restricted temporarily to protect both patients and caregivers from COVID-19 infection. Lack of physical activities during lockdown may lead to worsening of various motor and non-motor symptoms in patients with Parkinson's disease (PD) [1]. Therefore, to reduce the spread of the virus, digital rehabilitation (E-Rehabilitation) strategies should be adopted as an alternative mode to deliver rehabilitation services at the comm...
Source: Parkinsonism and Related Disorders - June 4, 2020 Category: Neurology Authors: Adarsh Kumar Srivastav, Asir John Samuel Tags: Correspondence Source Type: research

Adaptive Neurology in COVID-19 times
At the time of this writing, over 6 million humans have been infected with the novel coronavirus (COVID-19), with over 370, 000 deaths in 188 countries [1]. The death toll continues to rise. Without question, the COVID-19 pandemic has altered the way we practice neurology and our management of patients with movement disorders worldwide. The global lockdown have forced some neurologists to practice internal medicine when additional manpower was necessary [2]; many others had to practice from their homes, and find new ways to manage neurological patients remotely [3]. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 3, 2020 Category: Neurology Authors: Elena Moro, Hubert H. Fernandez Tags: Editorial Source Type: research

Female, aging, difference formulations of DCI, or lower body weight increases AUC4hr of levodopa in patients with Parkinson's disease
We examined the factors that affect levodopa PK in patients with Parkinson's disease (PD) and quantified the intensity of their respective effects. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 2, 2020 Category: Neurology Authors: Noriko Nishikawa, Hirotaka Iwaki, Tomotaka Shiraishi, Yohei Mukai, Yuji Takahashi, Miho Murata Source Type: research

A novel rare variant of LRRK2 associated with familial Parkinson's disease: p.R1501W
Parkinson's disease (PD) is the second most common neurodegenerative disorder, and several familial PD-associated pathogenic genes have been identified through robust genetic studies [1]. Particularly, seven mutations of the leucine-rich repeat kinase 2 gene (LRRK2; p.N1437H, p.R1441C/G/H, p.Y1699C, p.G2019S, and p.I2020T) are thought to be pathogenic. Herein, we identified a novel rare variant, LRRK2 c.4501C   >  T (rs780894154), p.R1501W (Fig. 1A), located in the Ras-of-complex (ROC) domain, cosegregating in a family (Fig. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 1, 2020 Category: Neurology Authors: Satoshi Masuzugawa, Kenya Nishioka, Yuzuru Imai, Jun Ogata, Yuri Shojima, Yuanzhe Li, Hiroyo Yoshino, Nobutaka Hattori Tags: Correspondence Source Type: research

Paroxysmal movement disorder with response to carbamazepine in a patient with RHOBTB2 developmental and epileptic encephalopathy
We report on a 9-year-old girl with developmental and epileptic encephalopathy and movement disorder, who is heterozygous for a de novo variant in the RHOBTB2 gene that has previously been reported in two female [1] and one male [2] patients with early-onset epileptic encephalopathy, intellectual disability and movement disorder. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 1, 2020 Category: Neurology Authors: Carlotta Spagnoli, Luca Soliani, Stefano Giuseppe Caraffi, Margherita Baga, Susanna Rizzi, Grazia Gabriella Salerno, Daniele Frattini, Livia Garavelli, Juha Koskenvuo, Francesco Pisani, Carlo Fusco Tags: Correspondence Source Type: research

Huntington's disease as an unexpected cause of deafness with dystonia and chorea
Sensorineural hearing loss is a common clinical finding in neurodegenerative and neurometabolic disorders, despite rarer than in vascular, traumatic, infective and neoplastic causes [1]. Although frequently asymptomatic even in moderate to late stages of some diseases, deafness generally represents an important diagnostic tip during clinical evaluation of differential diagnosis, especially in some restricted contexts, such as the movement disorders. The most common etiologies of sensorineural deafness associated with movement disorders include autosomal recessive diseases, however autosomal dominant inheritance may also be...
Source: Parkinsonism and Related Disorders - June 1, 2020 Category: Neurology Authors: Paulo Victor Sgobbi de Souza, Jos é Luiz Pedroso, Wladimir Bocca Vieira de Rezende Pinto, Orlando Graziani Povoas Barsottini Tags: Correspondence Source Type: research