How to detect late-onset inborn errors of metabolism in patients with movement disorders – A modern diagnostic approach
We propose a modern approach to assist clinicians to recognize and diagnose inborn errors of metabolism (IEMs) in adolescents and adults that present with a movement disorder. IEMs presenting in adults are still largely unexplored. These disorders receive little attention in neurological training and daily practice, and are considered complicated by many neurologists. Adult-onset presentations of IEMs differ from childhood-onset phenotypes, which may lead to considerable diagnostic delay. The identification of adult-onset phenotypes at the earliest stage of the disease is important, since early treatment may prevent or les...
Source: Parkinsonism and Related Disorders - March 1, 2021 Category: Neurology Authors: Lisette H. Koens, Jeroen J. de Vries, Fleur Vansenne, Tom J. de Koning, Marina A.J. Tijssen Tags: Review article Source Type: research

For publication in: Parkinsonism and related disorders Nigral MRI features of asymptomatic welders compared to Parkinson ’s disease patients
This study investigated whether asymptomatic welders exhibit changes in the substantia nigra (SN), the key pathological locus of PD. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - February 23, 2021 Category: Neurology Authors: Eun-Young Lee, Michael R. Flynn, Guangwei Du, Mechelle M. Lewis, Michael Goldenberg, Lan Kong, Richard B. Mailman, Xuemei Huang Source Type: research

Spinal myoclonus? Proposal for a new definition
Tremor is defined as an involuntary, rhythmic, oscillatory movement of some part of the body [1]. It is characterized by symmetrical speed oscillations in both directions (round trip), and the existence of a midpoint of movement. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - February 23, 2021 Category: Neurology Authors: Micheli Federico Eduardo, Groppo Javier, Contartese Mar ía Laura, Baccaglio Pablo Gustavo Tags: Correspondence Source Type: research

Adult Onset POLR3A Leukodystrophy presenting with Parkinsonism treated with Pallidal Deep Brain Stimulation
POLR3A related leukodystrophy is an autosomal recessive disorder with typical neurologic and non-neurologic manifestations. The POLR3A gene encodes the largest subunit of RNA polymerase 3[1]. Neurologic sequalae include cognitive impairment, ataxia, tremor, extrapyramidal and pyramidal manifestations. Non-neurologic manifestations include ocular, dental and endocrine abnormalities, particularly hypogonadism. Adult onset and parkinsonism have not been commonly described, thus far [2 –5]. We discuss a case of levodopa responsive parkinsonism secondary to adult onset POLR3A leukodystrophy, complicated by motor fluctuati...
Source: Parkinsonism and Related Disorders - February 22, 2021 Category: Neurology Authors: Kevin Kyle, Xenos Mason, Jeff Bronstein, Yvette Bordelon, Nader Pouratian Tags: Correspondence Source Type: research

Neural correlates of attentional deficits in Parkinson ’s disease patients with mild cognitive impairment
Deficits in attentional processing observed in Parkinson ’s disease (PD) patients with mild cognitive impairment (MCI) increase risk of PD dementia. However, the neural basis of these attentional deficits are presently unknown. The present study aimed to explore the neural correlates of attention dysfunction in PD-MCI using the Attention Network Test (A NT) and functional Magnetic Resonance Imaging (fMRI). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - February 21, 2021 Category: Neurology Authors: Jihyun Yang, Dana Pourzinal, Katie L. McMahon, Gerard J. Byrne, David A. Copland, John D. O ’Sullivan, Nadeeka N. Dissanayaka Source Type: research

Huntington disease-like phenotype in a patient with ANO3 mutation
A 71-year-old previously well white British female developed progressive involuntary tongue movements over one year, resulting in eating difficulty and 10kg weight loss. She had also noted involuntary perioral, facial and distal limb movements beginning 18 months earlier. These had progressively worsened. In the 3 years prior to presentation, she reported subjective memory decline, word finding difficulty and depressed mood, which improved with mirtazapine 30mg once daily. She had no history of neuroleptic exposure. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - February 19, 2021 Category: Neurology Authors: Shahedah Koya Kutty, Eoin Mulroy, Francesca Magrinelli, Giulia Di Lazzaro, Anna Latorre, Kailash P. Bhatia Source Type: research

Peribuccal and pharyngeal myorhythmia as a presenting symptom of hypertrophic olivary degeneration
A 58-year-old woman underwent to a successful surgical treatment of a left cerebellar paravermian cavernous malformation. Seven months later she progressively developed involuntary contractions of the left peribuccal region. Neurological examination revealed repetitive, rhythmic, slow frequency jerks of the left corner of the mouth (Video, segment-1). She did not report swallowing difficulties, saliva pooling or ear clicks. However, a careful examination of the oral cavity revealed the presence of synchronous contractions of left pharyngeal muscles (Video, segment-2). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - February 18, 2021 Category: Neurology Authors: Federica Assenza, Maurilio Genovese, Maria Paola Cabboi, Gaetano Salomone, Francesco Cavallieri, Franco Valzania Source Type: research

Social cognition in Parkinson's disease
The study presented by Czernecki and colleagues in the current issue, seeks to further our understanding of the emerging concept of Social Cognition (SC) in Parkinson ’s Disease (PD). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - February 18, 2021 Category: Neurology Authors: Lewis SJG, Ricciardi L Tags: Editorial Source Type: research

Motor blocks during bilateral stepping in Parkinson ’s disease and effects of dopaminergic medication
Freezing of gait (FOG) is a complex symptom in Parkinson ’s disease (PD) that manifests during walking as limited forward progression despite the intention to walk. It is unclear if lower limb motor blocks (LLMB) that occur independently from FOG are related to overground FOG and the effects of dopaminergic medications. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - February 17, 2021 Category: Neurology Authors: Julianne Baarb é, Karlo J. Lizarraga, Matt J.N. Brown, Utpal Saha, Alfonso Fasano, William D. Hutchison, Robert Chen Tags: Short communication Source Type: research

Association of lipid levels with motor and cognitive function and decline in advanced Parkinson ’s disease in the MARK-PD study
In prospective cohort studies different blood lipid fractions have been identified as risk factors of Parkinson ’s disease (PD). However, data relating lipoproteins to disease phenotypes and progression in advanced PD patients are sparse. Therefore, we assessed the most common lipoproteins in a case-control design and evaluated their associations with motor and cognitive function and decline in PD patients. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - February 16, 2021 Category: Neurology Authors: Chi-un Choe, Elina Petersen, Susanne Lezius, Bastian Cheng, Robert Schulz, Carsten Buhmann, Monika P ötter-Nerger, Günter Daum, Stefan Blankenberg, Christian Gerloff, Edzard Schwedhelm, Tanja Zeller Source Type: research

Serum NFL levels predict progression of motor impairment and reduction in putamen dopamine transporter binding ratios in de novo Parkinson ’s Disease: an 8-year longitudinal study
Neurofilament light chain (NFL), which is a sensitive measure of axonal damage, has been proposed as a promising biomarker in neurodegenerative diseases. In Parkinson ’s disease (PD), NFL can distinguish PD from other parkinsonian disorders, and NFL concentration is associated with disease severity, risk of progression and survival. To determine whether serum NFL at baseline in de novo PD predicts motor decline, differentially impacts clinical features of postu ral instability and gait disorder (PIGD) compared to tremor, predicts loss of dopamine terminals, and predicts cognitive decline, here we evaluated 376 de nov...
Source: Parkinsonism and Related Disorders - February 16, 2021 Category: Neurology Authors: Rong Ye, Joseph J. Locascio, Anna E. Goodheart, Moqing Quan, Baorong Zhang, Stephen N. Gomperts Source Type: research

Paroxysmal, exercise-induced, diurnally fluctuating dystonia: expanding the phenotype of SPG8
The hereditary spastic paraplegias (HSP) are a heterogeneous group of neurodegenerative disorders characterized by length-dependent retrograde corticospinal tract degeneration, producing a clinical syndrome dominated by lower limb predominant spasticity. HSPs may display autosomal dominant, recessive, X-linked or mitochondrial inheritance1. They are frequently categorized on clinical grounds into ‘pure’ HSPs –which can have additional bladder involvement and/or mild lower limb vibration sense abnormalities-and ‘complex’ HSPs, which comprise additional features such as neuropathy, seizures, cog...
Source: Parkinsonism and Related Disorders - February 16, 2021 Category: Neurology Authors: Eoin Mulroy, Francesca Magrinelli, Nor Amelia Mohd Fauzi, Shahedah Koya Kutty, Anna Latorre, Kailash P. Bhatia Tags: Correspondence Source Type: research

Excessive daytime sleepiness in Parkinson's disease: A systematic review and meta-analysis
To provide a robust estimate of the prevalence of excessive daytime sleepiness (EDS) and its clinical correlates in patients with Parkinson's disease (PD). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - February 15, 2021 Category: Neurology Authors: Fei Feng, YingYing Cai, YanBing Hou, Ruwei Ou, Zheng Jiang, HuiFang Shang Tags: Review article Source Type: research

Excessive daytime sleepiness in Parkinson ’s Disease: A Systematic Review and Meta-analysis
To provide a robust estimate of the prevalence of excessive daytime sleepiness (EDS) and its clinical correlates in patients with Parkinson ’s disease (PD). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - February 15, 2021 Category: Neurology Authors: Fei Feng, YingYing Cai, YanBing Hou, Ruwei Ou, Zheng Jiang, HuiFang Shang Tags: Review article Source Type: research

Abnormal Subpopulations of Monocytes In the Cerebrospinal Fluid of Patients With Parkinson's Disease
We performed immune cell profiling by multiparameter flow cytometry in cerebrospinal fluid (CSF) and peripheral blood (PB) of Parkinson's Disease (PD) patients (n=9) and healthy controls (n=8). Classical and non-classical monocytes were increased in the CSF of PD patients. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - February 13, 2021 Category: Neurology Authors: Christiane Pillny, Louisa Nitsch, Sabine Proske-Schmitz, Amit Sharma, Ullrich W üllner Tags: Correspondence Source Type: research

Clinical manifestations of Parkinson ’s disease harboring VPS35 retromer complex component p.D620N with long-term follow-up
To identify and investigate patients with Parkinson ’s disease (PD) harboring VPS35 variants in Japan. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - February 12, 2021 Category: Neurology Authors: Mayu Ishiguro, Yuanzhe Li, Hiroyo Yoshino, Kensuke Daida, Yuta Ishiguro, Genko Oyama, Shinji Saiki, Manabu Funayama, Nobutaka Hattori, Kenya Nishioka Tags: Short communication Source Type: research

Clinically relevant copy-number variants in exome sequencing data of patients with dystonia
Next-generation sequencing is now used on a routine basis for molecular testing but studies on copy-number variant (CNV) detection from next-generation sequencing data are underrepresented. Utilizing an existing whole-exome sequencing (WES) dataset, we sought to investigate the contribution of rare CNVs to the genetic causality of dystonia. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - February 11, 2021 Category: Neurology Authors: Michael Zech, Sylvia Boesch, Matej Škorvánek, Ján Necpál, Jana Švantnerová, Matias Wagner, Yasemin Dincer, Ariane Sadr-Nabavi, Tereza Serranová, Irena Rektorová, Petra Havránková, Shahzaman Ganai, Alexandra Mosejová, Iva Příhodová, Jana Šar Tags: Short communication Source Type: research

The neural correlates of gait improvement by rhythmic sound stimulation in adults with Parkinson's disease – A functional magnetic resonance imaging study
Adults with Parkinson ’s disease (PD) experience gait disturbances that can sometimes be improved with rhythmic auditory stimulation (RAS); however, the underlying physiological mechanism for this improvement is not well understood. We investigated brain activation patterns in adults with PD and healthy controls (HC) u sing functional magnetic resonance imaging (fMRI) while participants imagined gait with or without RAS. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - February 10, 2021 Category: Neurology Authors: Daisuke Nishida, Katsuhiro Mizuno, Emi Yamada, Takashi Hanakawa, Meigen Liu, Tetsuya Tsuji Source Type: research

Ambroxol increases glucocerebrosidase (GCase) activity and restores GCase translocation in primary patient-derived macrophages in Gaucher disease and Parkinsonism
Mutations in the glucocerebrosidase gene (GBA) encoding the lysosomal enzyme glucocerebrosidase (GCase) cause Gaucher disease (GD) and are the most commonly known genetic risk factor for Parkinson disease (PD). Ambroxol is one of the most effective pharmacological chaperones of GCase. Fourteen GD patients, six PD patients with mutations in the GBA gene (GBA-PD), and thirty controls were enrolled. GCase activity and hexosylsphingosine (HexSph) concentration were measured in dried blood and macrophage spots using liquid chromatography coupled with tandem mass spectrometry. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - February 9, 2021 Category: Neurology Authors: A.E. Kopytova, G.N. Rychkov, M.A. Nikolaev, G.V. Baydakova, A.A. Cheblokov, K.A. Senkevich, D.A. Bogdanova, O.I. Bolshakova, I.V. Miliukhina, V.A. Bezrukikh, G.N. Salogub, S.V. Sarantseva, T.C. Usenko, E.Y. Zakharova, A.K. Emelyanov, S.N. Pchelina Source Type: research

Retrospective analysis of 17 patients with Mitochondrial Membrane Protein-Associated Neurodegeneration diagnosed in Russia
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurological syndrome caused by pathogenic variants in the C19orf12 and is characterized by iron deposition in the basal ganglia and substantia nigra. Only a limited number of cohort studies were published to date and the prevalence of MPAN remains uncertain. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - February 9, 2021 Category: Neurology Authors: Peter Sparber, Tatiana Krylova, Svetlana Repina, Nina Demina, Galina Rudenskaya, Inna Sharkova, Artem Sharkov, Vitali Kadishev, Ilya Kanivets, Sergey Korostelev, Ekaterina Pomerantseva, Vladimir Kaimonov, Svetlana Mikhailova, Ekaterina Zakharova, Mikhail Source Type: research

Sensory Tricks in Cervical Dystonia Correlate with Enhanced Brain Activity During Motor Preparation
Although sensory tricks are well known as the maneuvers that temporarily relieve dystonic symptoms in patients with cervical dystonia (CD), the underlying neurophysiological mechanisms remain unclear. We aimed to investigate brain potentials related to sensory tricks in patients with CD. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - February 9, 2021 Category: Neurology Authors: Hae-Won Shin, Hyun Joo Cho, Sang Wook Lee, Hitoshi Shitara, Mark Hallett Tags: Short communication Source Type: research

Quantitative mobility measures complement the MDS-UPDRS for characterization of Parkinson ’s disease heterogeneity
Emerging technologies show promise for enhanced characterization of Parkinson ’s Disease (PD) motor manifestations. We evaluated quantitative mobility measures from a wearable device compared to the conventional motor assessment, the Movement Disorders Society-Unified PD Rating Scale part III (motor MDS-UPDRS). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - February 9, 2021 Category: Neurology Authors: Emily J. Hill, C. Grant Mangleburg, Isabel Alfradique-Dunham, Brittany Ripperger, Amanda Stillwell, Hiba Saade, Sindhu Rao, Oluwafunmiso Fagbongbe, Rainer von Coelln, Arjun Tarakad, Christine Hunter, Robert J. Dawe, Joseph Jankovic, Lisa M. Shulman, Aron Source Type: research

Articulatory network reorganization in Parkinson ’s disease as assessed by multimodal MRI and acoustic measures
Hypokinetic dysarthria (HD) is common in Parkinson ’s disease (PD). Our objective was to evaluate articulatory networks and their reorganization due to PD pathology in individuals without overt speech impairment using a multimodal MRI protocol and acoustic analysis of speech. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - February 9, 2021 Category: Neurology Authors: Patricia Klobusiakova, Jiri Mekyska, Lubos Brabenec, Zoltan Galaz, Vojtech Zvoncak, Jan Mucha, Steven Z. Rapcsak, Irena Rektorova Source Type: research

Compound heterozygous variants in Wiskott-Aldrich syndrome like (WASL) gene segregating in a family with early onset Parkinson ’s disease
Knowledge of genetic determinants in Parkinson ’s disease is still limited. Familial forms of the disease continue to provide a rich resource to capture the genetic spectrum in disease pathogenesis, and this approach is exploited in this study. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - February 4, 2021 Category: Neurology Authors: Sumeet Kumar, Masoom M. Abbas, Shyla T. Govindappa, Uday B. Muthane, Madhuri Behari, Sanjay Pandey, Ramesh C. Juyal, B.K. Thelma Source Type: research

Perry syndrome with progressive supranuclear palsy-like phenotype in a Portuguese family – Long-term clinical follow-up
Perry syndrome (PS), or Perry disease, was first described in 1975 in a Canadian family as an autosomal dominant disease [1]. Disease-causing DCTN1 gene variants were later identified as the cause of PS and brain pathology studies revealed pallidonigral TDP-43 proteinopathy [2]. Parkinsonism, depression, weight loss, and sleep disturbances have been identified as the four cardinal PS diagnostic signs [3]. Eighty-seven patients from 20 families were considered for establishing these criteria, emphasizing the rarity of this condition. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - February 4, 2021 Category: Neurology Authors: Rui Duarte Barreto, Rita Rodrigues, Jos é Mário Roriz, Isabel Alonso, Marina Magalhães Tags: Correspondence Source Type: research

Association Of Psp Phenotypes With Survival: A Brain-Bank Study
The MDS-PSP criteria expand the phenotypic spectrum of PSP by adding to Richardson ’s syndrome (PSP-RS) other presentations such as PSP-parkinsonism (PSP-P), PSP-pure-gait-freezing (PSP-PGF), PSP-speech-language (PSP-SL), PSP-frontal (PSP-F), PSP-postural-instability (PSP-PI) and PSP-corticobasal-syndrome (PSP-CBS). Evidence about the prognostic differences between PSP phenotype s is scarce and focused on PSP-RS vs. non-PSP-RS. Using a brain-bank cohort we assessed PSP survival not only in PSP-RS vs. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - February 2, 2021 Category: Neurology Authors: M. Guasp, L. Molina-Porcel, C. Painous, N. Caballol, A. C ámara, A. Pérez-Soriano, A. Sánchez, A. Garrido, E. Muñoz, M.J. Marti, F. Valldeoriola, O. Grau, E. Gelpí, G. Respondek, G.H. Höglinger, Y. Compta Tags: Short communication Source Type: research

Genetic characterization of a cohort with familial parkinsonism and cognitive-behavioral syndrome: a Next Generation Sequencing study
To perform the genetic characterization of a cohort with familial parkinsonism and cognitive-behavioral syndrome. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - February 1, 2021 Category: Neurology Authors: Marina Picillo, Monia Ginevrino, Giovanna Dati, Sara Scannapieco, Annamaria Vallelunga, Pietro Siano, Giampiero Volpe, Roberto Ceravolo, Valentina Nicoletti, Edoardo Cicero, Alessandra Nicoletti, Mario Zappia, Silvia Peverelli, Vincenzo Silani, Maria Tere Source Type: research

The sobering and puzzling reality of rehabilitation referrals for Parkinson disease
Historically, the onset of disability in Parkinson disease (PD) has been assumed to begin years after diagnosis. However, careful examination of a variety of physiologic systems and behaviors reveals the presence of measurable disability relative to age-matched neurologically healthy controls early after and in some cases even before diagnosis [1 –3]. For example, objective measurements of ambulatory activity, functional mobility and oromotor function suggest that the majority of patients with early stage PD have deficits in gait, ADL's, voice, speech, and swallowing [3–6]. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 31, 2021 Category: Neurology Authors: Leland E. Dibble, Theresa D. Ellis Tags: Editorial Source Type: research

Sobering and Puzzling Reality of Rehabilitation Referrals for Parkinson Disease
Historically, the onset of disability in Parkinson disease (PD) has been assumed to begin years after diagnosis. However, careful examination of a variety of physiologic systems and behaviors reveals the presence of measurable disability relative to age-matched neurologically healthy controls early after and in some cases even before diagnosis.1 –3 For example, objective measurements of ambulatory activity, functional mobility and oromotor function suggest that the majority of patients with early stage PD have deficits in gait, ADL’s, voice, speech, and swallowing. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 31, 2021 Category: Neurology Authors: Leland E. Dibble, Theresa D. Ellis Tags: Editorial Source Type: research

Genetic variants in levodopa-induced dyskinesia (LID): a systematic review and meta-analysis
Levodopa-induced dyskinesia frequently complicates long-term Parkinson ’s disease. More in-depth knowledge regarding the role of genetic factors in dyskinesia development may be important to identify parkinsonian patients who are more prone to developing dyskinesia and clarify the molecular mechanisms underlying this condition. For this reason, we systematically revi ewed studies investigating genetic factors involved in dyskinesia. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 30, 2021 Category: Neurology Authors: Marika Falla, Alessio di Fonzo, Andrew Anthony Hicks, Peter Paul Pramstaller, Giovanni Fabbrini Tags: Review article Source Type: research

Point of View: Wearable Systems for at-home monitoring of motor complications in Parkinson ’s disease should deliver clinically actionable information
Parkinson ’s disease (PD) affects over six million people globally. PD leads to devastating chronic motor manifestations such as bradykinesia/akinesia, rigidity, gait disturbance, and tremor. PD symptoms are managed by adjusting the schedule and dose of PD medications such as levodopa and dopamine agonists. However, PD patients at mid- and advanced-stages of the disease frequently experience additional treatment-related motor complications such as troubling motor fluctuations between mobile (ON) and akinetic (OFF) states and abnormal, involuntary dyskinetic movements [1]. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 30, 2021 Category: Neurology Authors: Behnaz Ghoraani, James E. Galvin, Joohi Jimenez-Shahed Tags: Point of view Source Type: research

Connecting the visual deficit to motor improvement in Parkinson's via art therapy
Parkinson's disease (PD) is not just a motor disorder - as a neurodegenerative condition, PD involves motor and nonmotor impairments that can cause disabilities. PD treatment has shifted from focusing almost exclusively on its motor aspects to a comprehensive interdisciplinary team approach that addresses both motor and nonmotor features. In addition to medical and surgical (deep brain stimulation) treatments, rehabilitation approaches that include physical therapists, occupational therapists, and speech language pathologists, along with neuropsychological support, palliative care and family counselling to address the well...
Source: Parkinsonism and Related Disorders - January 29, 2021 Category: Neurology Authors: Fang Ba, Ronald F. Pfeiffer Tags: Editorial Source Type: research

Attentional dysfunction and the punding spectrum in Parkinson ’s disease
Punding is a complication of Parkinson ’s disease (PD) treatment and stimulant abuse that features excessive preoccupation with repetitive and/or aimless behaviors. We hypothesized that cognitive impairment and functional limitations influence how punding behaviors manifest in PD. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 29, 2021 Category: Neurology Authors: Jared.T. Hinkle, Kate Perepezko, Kelly.A. Mills, Gregory.M. Pontone Source Type: research

Connecting the Visual Deficit to Motor Improvement in Parkinson ’s via Art Therapy
Parkinson ’s disease (PD) is not just a motor disorder - as a neurodegenerative condition, PD involves motor and nonmotor impairments that can cause disabilities. PD treatment has shifted from focusing almost exclusively on its motor aspects to a comprehensive interdisciplinary team approach that addresses both motor and nonmotor features. In addition to medical and surgical (deep brain stimulation) treatments, rehabilitation approaches that include physical therapists, occupational therapists, and speech language pathologists, along with neuropsychological support, palliative care and family counsell ing to address ...
Source: Parkinsonism and Related Disorders - January 29, 2021 Category: Neurology Authors: Fang Ba, Ronald F. Pfeiffer Tags: Editorial Source Type: research

Closed-Loop Programming Using External Responses for Deep Brain Stimulation in Parkinson ’s Disease
Deep brain stimulation (DBS) is an established treatment for Parkinson ’s disease (PD). Clinicians face various challenges in adjusting stimulation parameters and configurations in clinical DBS settings owing to inexperience, time constraints, and recent advances in DBS technology that have expanded the number of possible contact configurations. We aimed to assess th e efficacy of the closed-loop algorithm (CLA) for the DBS-programming method using external motion sensor-based motor assessments in patients with PD. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 29, 2021 Category: Neurology Authors: Fuyuko Sasaki, Genko Oyama, Satoko Sekimoto, Maierdanjiang Nuermaimaiti, Hirokazu Iwamuro, Yasushi Shimo, Atsushi Umemura, Nobutaka Hattori Source Type: research

The role of pedunculopontine nucleus in isolated REM sleep behavior disorder and REM sleep without atonia
The aim of this study was to analyze the functions of pedunculopontine nucleus (PPN) in isolated REM sleep behavior disorder (iRBD) and REM sleep without atonia (RSWA) to investigate the role of PPN in dream-enacting motor behaviors in RBD. We evaluated the activity of PPN through the prepulse modulation (PPM) together with other brainstem reflexes to investigate the differences in changes at brainstem. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 29, 2021 Category: Neurology Authors: Demet Ayg ün, F. İnci Ertaş, Ayşegül Gündüz, Gülçin Benbir Şenel, Derya Karadeniz, Meral Kızıltan Source Type: research

Skin Conditions in Early Parkinson ’s Disease
Skin conditions have been associated with increased risk of Parkinson ’s disease (PD). Little is known about clinical and biomarker differences according to presence of skin conditions among PD patients. Studying these differences might provide insight into PD pathogenesis. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 28, 2021 Category: Neurology Authors: Deepika Dinesh, Jong Soo Lee, Xiang Gao, Natalia Palacios Source Type: research

Contribution of coding/non-coding variants in NUS1 to late-onset sporadic Parkinson ’s disease
A recent study reported that rare variants in NUS1 were associated with Parkinson ’s disease (PD). We aimed to assess the relative contribution of rare and common coding/non-coding variants of NUS1 to late-onset PD patients (LOPD). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 27, 2021 Category: Neurology Authors: Li Jiang, Hong-xu Pan, Yu-wen Zhao, Qian Zeng, Zhen-hua Liu, Qi-ying Sun, Qian Xu, Jie-qiong Tan, Xin-xiang Yan, Jin-chen Li, Bei-sha Tang, Ji-feng Guo Source Type: research

The other face of spinocerebellar ataxia type 3
In this issue, Cardoso Vale and colleagues report on a 30-year-old man who presented with orofacial dystonia that turned out to be due to an expanded CAG repeat in the ATXN3 gene, compatible with spinocerebellar ataxia type 3 (SCA3). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 26, 2021 Category: Neurology Authors: Bart P. van de Warrenburg Source Type: research

Art therapy for Parkinson's disease
Art therapy improves overall visual-cognitive skills and visual exploration strategies as well as general motor function in patients with PD. The changes in brain connectivity highlight a functional reorganization of visual networks. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 22, 2021 Category: Neurology Authors: Alberto Cucca, Alessandro Di Rocco, Ikuko Acosta, Mahya Beheshti, Marygrace Berberian, Hilary C. Bertisch, Amgad Droby, Tom Ettinger, Todd E. Hudson, Matilde Inglese, Yoon J. Jung, Daniella F. Mania, Angelo Quartarone, John-Ross Rizzo, Kush Sharma, Andrew Source Type: research

Art Therapy for Parkinson ’s disease
To explore the potential rehabilitative effect of art therapy and its underlying mechanisms in Parkinson ’s disease (PD). Methods: Observational study of eighteen patients with PD, followed in a prospective, open-label, exploratory trial. Before and after twenty sessions of art therapy, PD patients were assessed with the UPDRS, Pegboard Test, Timed Up and Go Test (TUG), Beck Depression Inventory (BDI ), Modified Fatigue Impact Scale and PROMIS-Self-Efficacy, Montreal Cognitive Assessment, Rey-Osterrieth Complex Figure Test (RCFT), Benton Visual Recognition Test (BVRT), Navon Test, Visual Search, and Stop Signal Task....
Source: Parkinsonism and Related Disorders - January 22, 2021 Category: Neurology Authors: Alberto Cucca, Alessandro Di Rocco, Ikuko Acosta, Mahya Beheshti, Marygrace Berberian, Hilary C. Bertisch, Amgad Droby, Tom Ettinger, Todd E. Hudson, Matilde Inglese, Yoon J. Jung, Daniella F. Mania, Angelo Quartarone, John-Ross Rizzo, Kush Sharma, Andrew Source Type: research

Initial center of pressure position prior to anticipatory postural adjustments during gait initiation in people with Parkinson ’s disease with freezing of gait
Freezing of gait (FOG) in Parkinson ’s disease (PD) is associated with an altered posture during quiet stance as well as an impaired preparation and execution of the gait initiation process. We aimed to investigate whether an altered initial posture impacts anticipatory postural adjustments (APAs) and first-step execution during gai t initiation in people with PD with FOG (PD+FOG). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 22, 2021 Category: Neurology Authors: Madli Bayot, Arnaud Delval, Caroline Moreau, Luc Defebvre, Clint Hansen, Walter Maetzler, Christian Schlenstedt Source Type: research

Serum uric acid level as a putative biomarker in Parkinson's disease patients carrying GBA1 mutations: 2-Year data from the PPMI study
Blood uric acid represents an important biomarker in sporadic Parkinson ’s disease (PD). Whether uric acid levels change in genetic forms of PD is beginning to be assessed. The aim of the present study was to evaluate differences in serum uric acid level among PD patients harboring mutations in the glucocerebrosidase (GBA1) gene, sporadic PD, and healthy controls foll owed longitudinally. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 19, 2021 Category: Neurology Authors: Christos Koros, Athina-Maria Simitsi, Nikolaos Papagiannakis, Anastasia Bougea, Andreas Prentakis, Dimitra Papadimitriou, Ioanna Pachi, Roubina Antonelou, Efthalia Angelopoulou, Ion Beratis, Maria Bozi, Sokratis G. Papageorgiou, Xenia Geronicola Trapali, Tags: Short communication Source Type: research

Comment on “The association between pain and impulse control behaviours in Parkinson's disease”
The recent paper by Kobylecki et al. explored the association between impulse control behaviours and pain in Parkinson ’s disease, under the hypothesis of shared mesolimbic dysfunction.We discuss cognitive and motivational disturbances as potential covariates and suggest the dorsolateral prefrontal cortex as a therapeutic target for this “pain-predominant” symptom subtype. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 13, 2021 Category: Neurology Authors: Alice Martini, Elisa Mantovani, Stefano Tamburin Tags: Correspondence Source Type: research

Estimating the causal effects of modifiable, non-genetic factors on Huntington Disease progression using propensity score weighting
Despite being genetically inherited, it is unclear how non-genetic factors (e.g., substance use, employment) might contribute to the progression and severity of Huntington ’s Disease (HD). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 13, 2021 Category: Neurology Authors: Beth Ann Griffin, Marika Suttorp Booth, Monica Busse, Edward J. Wild, Claude Setodji, John H. Warner, Cristina Sampaio, Amrita Mohan Source Type: research

Author response to Comment on “The association between pain and impulse control behaviours in Parkinson’s disease”
We are grateful to Martini and colleagues [1] for their helpful comments on our work on the association of pain and impulse control behaviours (ICB) in Parkinson ’s disease (PD) [2]. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 13, 2021 Category: Neurology Authors: Christopher Kobylecki, Monty A. Silverdale Tags: Correspondence Source Type: research

Atypical presentations of DYT1 dystonia with acute craniocervical onset
DYT1 gene mutations lead to early-onset dystonia that begins with focal limb onset and spreads to other body regions within 5 years, with typical sparing of the oromandibular muscles. In the present study, we describe two patients with an unusual presentation of the disease. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 13, 2021 Category: Neurology Authors: P. Pavelekova, R. Jech, M. Zech, A. Krepelova, V. Han, A. Mosejova, Z. Liba, D. Urgosik, Z. Gdovinova, P. Havrankova, A. Fecikova, J. Winkelmann, M. Skorvanek Tags: Correspondence Source Type: research

The Importance of Non-Invasive Imaging in Understanding the Glymphatic System in Normal Pressure Hydrocephalus
The glymphatic, or glial-lymphatic system was only recently recognized to have an important role in the pathophysiology of several diseases including Alzheimer ’s, trauma, stroke, and normal pressure hydrocephalus [1]. Unlike the rest of the body that uses lymphatic vessels, the brain’s glial cells or astrocytes serve this function. The three main components of this network are the peri-arterial space, brain parenchyma, and peri-venous space. Briefly, cerebrospinal fluid (CSF) is pushed into peri-vascular, or Virchow-Robin, spaces within the brain by arterial pulsation [2]. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 12, 2021 Category: Neurology Authors: Richard Rammo, Sean Nagel Tags: Editorial Source Type: research

The FMD Marathon: Instilling Hope While Maintaining Reality
The work by Hebert and colleagues sought to understand the immediate and long-term outcomes of a multidisciplinary inpatient rehabilitation treatment for patients with functional movement disorders (FMD) [1]. While this study strengthens the evidence that short-term success can be achieved through an intensive inpatient rehabilitation intervention, it also highlights real-world challenges and calls for attention that FMD symptom management is more likely to be a marathon than a sprint. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 12, 2021 Category: Neurology Authors: Xin Xin Yu, Taylor E. Rush Tags: Editorial Source Type: research

Geospatial analysis of individual-based Parkinson's disease data supports a link with air pollution: a case-control study
The etiology of Parkinson ’s disease (PD) remains unknown. To approach the issue of PD’s risk factors from a new perspective, we hypothesized that coupling the geographic distribution of PD with spatial statistics may provide new insights into environmental epidemiology research. The aim of this case-control study was to examine the spatial dependence of PD prevalence in the Canton of Geneva, Switzerland (population=474,211). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 12, 2021 Category: Neurology Authors: Vanessa Fleury, Rebecca Himsl, St éphane Joost, Nicolas Nicastro, Matthieu Bereau, Idris Guessous, Pierre R. Burkhard Source Type: research