Serum neurofilament is associated with motor function, cognitive decline and subclinical cardiac damage in advanced Parkinson ’s disease
Serum neurofilament light chain (NfL) levels are associated with disease severity in early Parkinson ’s disease (PD). We assessed the association of serum NfL with motor and cognitive function and decline in advanced PD patients. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 29, 2021 Category: Neurology Authors: Louisa Niemann, Susanne Lezius, Aleksandra Maceski, David Leppert, Catrin Englisch, Edzard Schwedhelm, Tanja Zeller, Christian Gerloff, Jens Kuhle, Chi-un Choe Tags: Short communication Source Type: research

Frequency of Suicidal Ideation and Associated Clinical Features in Lewy Body Dementia
Neuropsychiatric disturbance is common in individuals with Lewy body dementia (LBD). Despite this, there is minimal research regarding suicide risks in this population. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 29, 2021 Category: Neurology Authors: Melissa J. Armstrong, Kathryn Moore, Charles E. Jacobson, Noheli Bedenfield, Bhavana Patel, Jennifer L. Sullivan Source Type: research

Timing matters: otological symptoms and Parkinson ’s disease
Otological symptoms contribute to the disability of established Parkinson ’s disease (PD). We sought to evaluate whether prodromal onset may affect PD progression. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 29, 2021 Category: Neurology Authors: Abhimanyu Mahajan, Luca Marsili, Alok K. Dwivedi, Miguel Situ-Kcomt, Maria Grimberg, Nathan Wachter, Elhusseini Abdelghany, Kevin Duque, Alberto J. Espay Tags: Short communication Source Type: research

Homozygous PLA2G6 (PARK 14) gene mutation associated neuropsychiatric phenotypes from southern India
PLA2G6 gene associated neurodegenerative disorders resulting from homozygous c. 2222G>A (p. Arg741Gln) mutation were detected in two cases having variable neuropsychiatric phenotypic and imaging findings. Exome analysis helped identification of rare alleles, reinforcing ethnographic antecedents to geographical clustering of rare mutations and essential to understanding biology of neurodegenerative disorders. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 28, 2021 Category: Neurology Authors: Kasturi Atmaram Sakhardande, Venkata Senthil Kumar Reddi, Shree Mishra, Karthick Navin, Aashraya Ramu, Gautham Arunachal, Sandhya Mangalore, Ravi Yadav, Sanjeev Jain Tags: Correspondence Source Type: research

Redistribution of Joint Moments and Dynamic Balance Control During Sit to Stand Task in Persons with Parkinson ’s Disease
We sought to determine how people with Parkinson disease (PD) perform the sit to stand task (STS). After measuring kinetic and kinematic data our results suggest that people with PD perform the STS task by redistributing their joint torques but is accompanied with postural instability. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 27, 2021 Category: Neurology Authors: Jared W. Skinner, Hyo Keun Lee, Chris J. Hass Tags: Correspondence Source Type: research

Olfaction, cholinergic basal forebrain degeneration, and cognition in early Parkinson disease
We examined the relationship between olfaction, longitudinal change in cholinergic basal forebrain nuclei and their target regions, and cognition in early PD. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 27, 2021 Category: Neurology Authors: Matthew J. Barrett, Justin M. Murphy, Jeffrey Zhang, Jamie C. Blair, Joseph L. Flanigan, Huma Nawaz, W. Alex Dalrymple, Scott A. Sperling, James Patrie, T. Jason Druzgal Source Type: research

White matter alterations in Parkinson ’s disease with levodopa-induced dyskinesia
Levodopa-induced dyskinesia is a complication of levodopa therapy and negatively impacts the quality of life of patients. We aimed to elucidate white matter alterations in Parkinson ’s disease with levodopa-induced dyskinesia using advanced diffusion magnetic resonance imaging techniques. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 23, 2021 Category: Neurology Authors: Takashi Ogawa, Taku Hatano, Koji Kamagata, Christina Andica, Haruka Takeshige-Amano, Wataru Uchida, Yuya Saito, Yasushi Shimo, Genko Oyama, Atsushi Umemura, Hirokazu Iwamuro, Masanobu Ito, Masaaki Hori, Shigeki Aoki, Nobutaka Hattori Source Type: research

1 α and θ oscillations in the subthalamic nucleus are potential biomarkers for Parkinson’s disease with depressive symptoms
This article explored the correlation between α and θ oscillations of STN nuclei and the depressive symptoms in PD patients. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 23, 2021 Category: Neurology Authors: Yujia Sun, Zhuyong Wang, Kai Hu, Yixiang Mo, Peihua Cao, Xusheng Hou, Xiaozheng He, Shizhong Zhang, Sha Xue Source Type: research

Hyper- and hypo-connectivity in sensorimotor network of drug-na ïve patients with cervical dystonia
Cervical dystonia (CD) is the most common form of focal dystonia with involuntary movements and postures of the head. The pathogenesis and neural mechanisms underlying CD have not been fully elucidated. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 22, 2021 Category: Neurology Authors: Ling-Yan Ma, Zhi-Jiang Wang, Hui-Zi Ma, Tao Feng Source Type: research

Mild Cognitive Impairment and Abnormal Brain Metabolic Expression in idiopathic REM Sleep Behavior Disorder
Mild cognitive impairment (MCI) is a common feature of isolated rapid-eye-movement sleep behavior disorder (iRBD). Here, we assessed cognitive functions and MCI in a prospective iRBD cohort and investigated their association with disease-specific brain metabolic patterns. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 22, 2021 Category: Neurology Authors: Dallah Yoo, Jee-Young Lee, Yu Kyeong Kim, Eun Jin Yoon, Heejung Kim, Ryul Kim, Hyunwoo Nam, Beomseok Jeon Source Type: research

Cognition in Children and Young Adults with Myoclonus Dystonia – A case control study
In adult patients with myoclonus dystonia (MD), cognitive deficits regarding information processing speed and executive functioning have been demonstrated, but it is unclear whether cognition is also affected in young MD patients. The present study investigates cognition in young MD patients and the role of an SGCE mutation. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 20, 2021 Category: Neurology Authors: Maraike A. Coenen, Hendriekje Eggink, Jacoba M. Spikman, Marina A. Tijssen Source Type: research

Challenges in the approach and reporting of atypical manifestations of membrane protein-associated neurodegeneration (MPAN): An editorial
Since the beginning of our careers, we have been trained with efficient algorithms for common diseases. In specialized clinics we often find ourselves outside this comfort zone, when facing cases with atypical manifestations and/or rare disorders. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 20, 2021 Category: Neurology Authors: Philippe A. Salles Source Type: research

Urine levels of the polyglutamine ataxin-3 protein are elevated in patients with spinocerebellar ataxia type 3
Accumulation of polyglutamine (polyQ) ataxin-3 (ATXN3) contributes to the pathobiology of spinocerebellar ataxia type 3 (SCA3). Recently, we showed that polyQ ATXN3 is elevated in the plasma and cerebrospinal fluid (CSF) of SCA3 patients, and has the potential to serve as a biological marker for this disease [1]. Based on these findings, we investigated whether polyQ ATXN3 can also be detected in urine samples from SCA3 patients. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 17, 2021 Category: Neurology Authors: Yuka Koike, Karen R. Jansen-West, Rana Hanna AL-Shaikh, Yari Carlomagno, Yuping Song, Judith A. Dunmore, Mark S. LeDoux, Joseph H. Friedman, Ashley B. Pena, Ryan J. Uitti, Jacek Zaremba, Jay A. van Gerpen, Ronald F. Pfeiffer, Venka Veerappan, Ikuko Aiba, Tags: Short communication Source Type: research

Chronic deep brain stimulation reduces cortical β-γ phase amplitude-coupling in patients with Parkinson’s disease
We compared β-γ phase amplitude coupling (PAC) before and after chronic deep brain stimulation in patients with Parkinson’s disease using EEG and observed significant post-operative reduction of PAC values that were stable for a prolonged time. Our findings support the use of cortical PAC as a biomarker for Parkinson’s disease. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 16, 2021 Category: Neurology Authors: Katsuki Eguchi, Shinichi Shirai, Masaaki Matsushima, Takahiro Kano, Tomohiro Ichikawa, Kazuyoshi Yamazaki, Shuji Hamauchi, Toru Sasamori, Toshitaka Seki, Mayumi Kitagawa, Hideaki Shiraishi, Kiyohiro Houkin, Hidenao Sasaki, Ichiro Yabe Tags: Correspondence Source Type: research

SCA2 in the Indian population: Unified haplotype and variable phenotypic patterns in a large case series
Spinocerebellar ataxia-2 is one of the most prevalent SCA type across the world and one of the commonest in India. We aimed to characterize SCA2 patients both clinically and genetically (ATXN2-CAG repeats and its haplotypic background). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 13, 2021 Category: Neurology Authors: Akhilesh K. Sonakar, Uzma Shamim, M V Padma Srivastava, Mohd Faruq, Achal K. Srivastava Source Type: research

“Huntington disease-like phenotype in a patient with ANO3 mutation” Expert commentary
The patient of Dr. Koya Kutty and colleagues developed a progressive hyperkinetic syndrome of perioral and tongue movements in her seventh decade. She exhibited generalised chorea, with unrest of all fingers caught on video (less so of toes). A video instance of mouth opening seemed dystonic to the authors, while the slight mirroring on finger and foot tapping appears within the limits of normal. Slowed backward spelling and calculation is apparent, yet the scarce further detail does not fully support “fronto-parietal compromise with both cortical and subcortical features”. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 13, 2021 Category: Neurology Authors: Adrian Danek Tags: Editorial Source Type: research

The auditory startle response in relation to outcome in functional movement disorders
The auditory startle reflex (ASR) is enlarged in patients with functional movement disorders (FMD). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 13, 2021 Category: Neurology Authors: Y.E.M. Dreissen, J.H.T.M. Koelman, M.A.J. Tijssen Tags: Short communication Source Type: research

A French survey on the lockdown consequences of COVID-19 pandemic in Parkinson ’s disease. The ERCOPARK study
In 2020 the coronavirus disease 19 (COVID-19) pandemic imposed a total and sudden lockdown. We aimed to investigate the consequences of the first COVID-19 lockdown (mid-March – mid-April 2020) on motor and non-motor symptoms (NMS) in a cohort of French people with Parkinson’s disease (PwP). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 13, 2021 Category: Neurology Authors: Margherita Fabbri, Cl émence Leung, Guillaume Baille, Matthieu Bérau, Christine Brefel Courbon, Giovanni Castelnovo, Nicolas Carriere, Philippe Damier, Luc Defebvre, Anne Doe de Maindreville, Frederique Fluchere, Marie Fuzzatti, David Grabli, David Malt Tags: Short communication Source Type: research

C9orf12 Mutation Causing Mitochondrial Membrane-protein Associated Neurodegeneration Masquerading as Spastic Paraplegia
We report a young woman presented with spastic paraparesis due to C9orf12 gene. MPAN presenting like Hereditary spastic paraplegia-43 is rare and the genetic mutation had been described only once in the literature. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 13, 2021 Category: Neurology Authors: Rithvik Ramesh, Anu Deenadayalu, Shakya Bhattacharjee, Vijayashankar Paramanandam Tags: Correspondence Source Type: research

C19orf12 mutation carriers and their first-degree relatives require prospective clinical and genetic work-up
With interest we read the article by Sparber et al. about 17 Russian patients with mitochondrial membrane protein-associated neurodegeneration (MPAN) due to variants in C19orf12 [1]. It was concluded that the stady expands the genotypic and phenotypic spectrum of MPAN [1]. We have the following comments and concerns. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 13, 2021 Category: Neurology Authors: J. Finsterer Tags: Correspondence Source Type: research

Tailoring the use of wearable systems and telehealth for Parkinson ’s Disease
We present data from a randomized trial of followup care delivered via traditional face to face visits with symptom diaries versus telehealth followup with wearable sensors. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 12, 2021 Category: Neurology Authors: Dakota Peacock, Joshua Yoneda, Vanessa Thomson, Daryl Wile Tags: Correspondence Source Type: research

A diagnosis of progressive myoclonic ataxia guided by blood biomarkers
The authors declare no conflict of interest concerning the research related to the manuscript. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 10, 2021 Category: Neurology Authors: Patricia Dubot, Marie Rafiq, Jonathan Curot, Marion Simonetta-Moreau, Fr édérique Sabourdy, Magali Pettazzoni, Roseline Froissart, Thierry Levade, Fabienne Ory-Magne Source Type: research

Genetic etiology of a Chinese ataxia cohort: expanding the mutational spectrum of hereditary ataxia
Hereditary ataxias demonstrate a high degree of clinical and genetic heterogeneity. Understanding the genetic etiology of hereditary ataxia is crucial for genetic counseling and clinical management. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 10, 2021 Category: Neurology Authors: Na Wan, Zhao Chen, Linlin Wan, Hongyu Yuan, Zhichao Tang, Mingjie Liu, Yun Peng, Linliu Peng, Lijing Lei, Yue Xie, Qi Deng, Shang Wang, Chunrong Wang, Huirong Peng, Xuan Hou, Yuting Shi, Zhe Long, Rong Qiu, Kun Xia, Beisha Tang, Hong Jiang Source Type: research

Clinical features of autopsy-confirmed multiple system atrophy in the Mayo Clinic Florida brain bank
This study aims to provide evidence supporting the revision of the current diagnostic criteria for MSA. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 9, 2021 Category: Neurology Authors: Shunsuke Koga, William P. Cheshire, Philip W. Tipton, Erika D. Driver-Dunckley, Zbigniew K. Wszolek, Ryan J. Uitti, Neill R. Graff-Radford, Jay A. van Gerpen, Dennis W. Dickson Source Type: research

Paroxysmal dyspnea in Parkinson's disease: Respiratory dyskinesias and autonomic hyperventilation are not the same
Respiratory complaints are not uncommon in patients with Parkinson's disease (PD). While many are explained by pulmonary and cardiovascular problems unrelated to PD, secondary effects of PD, such as kyphoscoliosis, respiratory muscle rigidity, repeated pneumonias, or side effects of medication such as dyskinesias, there is a small group of patients with paroxysmal dyspnea for whom neither anxiety or other explanation has been found. This Point of View was written to call attention to this neglected, uncommon, but very distressing symptom. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 8, 2021 Category: Neurology Authors: Joseph H. Friedman Tags: Point of view Source Type: research

Paroxysmal dyspnea in Parkinson ’s disease: respiratory dyskinesias and autonomic hyperventilation are not the same.
Respiratory complaints are not uncommon in patients with Parkinson ’s disease (PD). While many are explained by pulmonary and cardiovascular problems unrelated to PD, secondary effects of PD, such as kyphoscoliosis, respiratory muscle rigidity, repeated pneumonias, or side effects of medication such as dyskinesias, there is a small group of patients with paroxysm al dyspnea for whom neither anxiety or other explanation has been found. This Point of View was written to call attention to this neglected, uncommon, but very distressing symptom. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 8, 2021 Category: Neurology Authors: Joseph H. Friedman Tags: Point of view Source Type: research

Speech and Swallowing Deficits in X-Linked Dystonia-Parkinsonism
X-linked Dystonia-Parkinsonism (XDP) is a progressive, disabling disease characterized by the devastating impairment of bulbar function, including speech and swallowing. Despite these detrimental impacts, bulbar impairments in this population are not well characterized. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 8, 2021 Category: Neurology Authors: Ana Luiza Zaninotto, Jan K. de Guzman, Kaila L. Stipancic, Bridget J. Perry, Melanie L. Supnet, Criscely Go, Nutan Sharma, Jordan R. Green Source Type: research

Telemedicine and Deep brain stimulation - Current practices and Recommendations
The use of telemedicine in the management of chronic neurological conditions including movement disorders has expanded over time. In addition to enabling remote access to specialized care, telemedicine has also been shown to reduce caregiver burden and to improve patient satisfaction. With the COVID-19 pandemic, implementation of telehealth for patients with movement disorders, particularly those with more severe mobility issues, has increased rapidly. Although telemedicine care has been shown to be effective for patients with various movement disorders, its utilization for patients with device aided therapies such as deep...
Source: Parkinsonism and Related Disorders - July 7, 2021 Category: Neurology Authors: D.Sharma Vibhash, Delaram Safarpour, Shyamal H. Mehta, Nora Vanegas-Arroyave, Daniel Weiss, Jeffrey W. Cooney, Zoltan Mari, Alfonso Fasano Tags: Point of View Source Type: research

Flexible vs. Standard Subthalamic Stimulation in Parkinson disease: a Double-Blind Proof-of-Concept Cross-Over Trial
Deep brain stimulation (DBS) of the subthalamus (STN) is effective for the treatment of cardinal motor signs of Parkinson disease (PD). Structures around the STN can suppress dyskinesia and tremor (zona incerta) and improve gait and balance (substantia nigra pars reticulata). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 7, 2021 Category: Neurology Authors: Derrick Soh, Ricardo Maciel, Musleh Algarni, Karlo Lizarraga, Aaron Loh, J ürgen Germann, Gavin Elias, Alexandre Boutet, Renato P. Munhoz, Suneil K. Kalia, Mojgan Hodaie, Andres M. Lozano, Alfonso Fasano Tags: Short communication Source Type: research

Parkinson ’s disease patients may have higher rates of Covid-19 mortality in Iran
Parkinson ’s disease (PD) patients may be at increased risk of Covid-19 mortality due to the nature of their disease or underlying conditions. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 7, 2021 Category: Neurology Authors: Mehri Salari, Masoud Etemadifar, Farzad Ashrafi, Davood Ommi, Zahra Aminzade, Sepand Tehrani Fateh Tags: Correspondence Source Type: research

Excessive daytime sleepiness in idiopathic blepharospasm
To explore the frequency of excessive daytime sleepiness (EDS), and its impact on quality of life and its associated clinical factors in idiopathic blepharospasm. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 7, 2021 Category: Neurology Authors: Jing Yang, Lingyu Zhang, Yanbing Hou, Qianqian Wei, Ruwei Ou, Junyu Lin, Wei Song, Bei Cao, Huifang Shang Source Type: research

Editorial Board
(Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 1, 2021 Category: Neurology Source Type: research

Role of LRP10 in Parkinson ’s disease in a Taiwanese cohort
Variants in the low-density lipoprotein receptor –related protein 10 (LRP10), linked to inherited forms of α-synucleinopathies, have been reported. Nine variants of LRP10 were identified in the first such report, and subsequent studies have identified possible pathogenic variants in patients with sporadic Parkinson’s disease (PD). Few studies have investigated the role of LRP10 in PD. We sought to validate the role of this gene in Taiwanese patients with PD. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - July 1, 2021 Category: Neurology Authors: Ting-Wei Liao, Chun-Chieh Wang, Wen-Hung Chung, Shih-Chi Su, Szu-Han Chin, Hon Chung Fung, Yih-Ru Wu Source Type: research

Impulse control disorders are associated with lower ventral striatum dopamine D3 receptor availability in Parkinson's disease: a [11C]-PHNO PET study
Reduced postsynaptic D3 dopaminergic receptor availability has been reported in the ventral striatum of pathological gamblers without Parkinson ’s disease (PD) and in patients with PD and impulse control disorders (ICD). However, a direct relationship between ventral striatum D3 dopaminergic receptors and the severity of ICD in PD patients has not yet been proven using a validated tool for ICD in PD, such as the Questionnaire for Impulsiv e-Compulsive Disorders in Parkinson's disease-Rating Scale (QUIP-RS). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 30, 2021 Category: Neurology Authors: G. Pagano, S. Molloy, P.G. Bain, E.A. Rabiner, K. Ray Chaudhuri, D.J. Brooks, N. Pavese Source Type: research

Determining an efficient deep brain stimulation target in Essential Tremor - cohort study and review of the literature
Deep brain stimulation (DBS) is a highly efficacious treatment for essential tremor (ET). Still, the optimal anatomical target in the (sub)thalamic area is a matter of debate. The aim of this study was to determine the optimal target of DBS for ET regarding beneficial clinical outcome and impact on activities of daily living as well as stimulation-induced side effects and compare it with previously published coordinates. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 29, 2021 Category: Neurology Authors: Dorothee K übler, Daniel Kroneberg, Bassam Al-Fatly, Gerd-Helge Schneider, Siobhan Ewert, Christoph van Riesen, Doreen Gruber, Georg Ebersbach, Andrea A. Kühn Source Type: research

The Impact of Subthalamic Deep Brain Stimulation on Belief Revision and Social Validation
We investigated whether Deep Brain Stimulation (DBS) of the subthalamic nucleus (STN) influences social validation as measured by a Judge-Advisor task. In contrast to healthy controls and patients with their DBS OFF, patients with their stimulation switched on do not experience a gain of confidence after receiving competent advice. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 29, 2021 Category: Neurology Authors: Hannah Jergas, Linn éa Grindegård, Thomas Schultze, Sharmili Edwin Thanarajah, Elke Kalbe, Thilo van Eimeren, Haidar S. Dafsari, Till A. Dembek, Veerle Visser-Vandewalle, Gereon R. Fink, Lars Timmermann, Leonhard Schilbach Tags: Correspondence Source Type: research

A patient with SCA17 featuring 41 CAG repeats presents with spastic paraplegia and involuntary movement
Spinocerebellar ataxia 17 (SCA17) is among the most heterogeneous forms of autosomal dominant cerebellar ataxia; it is caused by triplet repeat expansions within the TATA box-binding protein (TBP) gene. Its features include ataxia, dementia, involuntary movement and psychiatric symptoms, with parkinsonism and dystonia being common manifestations. However, SCA17 is a complex disease with extensive phenotypic variability. Alleles with 50 or greater CAG/CAA repeats are pathologic with full penetrance, while alleles with 43 to 49 CAG/CAA repeats have a reported penetrance between 50% and 80%. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 28, 2021 Category: Neurology Authors: Yuting Ren, Kang Zhang, Qian Zhang, Bin Chen, Songtao Niu, Xingao Wang, Zaiqiang Zhang Tags: Correspondence Source Type: research

A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson ’s disease
Missense variants and multiplications of the alpha-synuclein gene (SNCA) are established as rare causes of autosomal dominant forms of Parkinson ’s Disease (PD). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 28, 2021 Category: Neurology Authors: Christina Fevga, Yangshin Park, Ebba Lohmann, Anneke J. Kievit, Guido J. Breedveld, Federico Ferraro, Leon de Boer, Rick van Minkelen, Hasmet Hanagasi, Agnita Boon, Wei Wang, Gregory A. Petsko, Quyen Q. Hoang, Murat Emre, Vincenzo Bonifati Source Type: research

Treatment of subcutaneous nodules after infusion of apomorphine; a biopsy-controlled study comparing 4 frequently used therapies
This study aimed to provide clinical evidence for existing treatments of subcutaneous nodules after subcutaneous infusion of apomorphine, using a biopsy-controlled prospective crossover design of four treatments. We demonstrated that dilution of apomorphine significantly improved patient satisfaction, while subcutaneous hydrocortisone reduced nodule size, however with no differences in the histopathology. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 28, 2021 Category: Neurology Authors: Robbert W.K. Borgemeester, Gilles F.H. Diercks, Teus van Laar Tags: Correspondence Source Type: research

A multimodal approach using TMS and EEG reveals neurophysiological changes in Parkinson's disease
Alterations in large scale neural networks leading to neurophysiological changes have been described in Parkinson's disease (PD). The combination of transcranial magnetic stimulation (TMS) and electroencephalography (EEG) has been suggested as a promising tool to identify and quantify neurophysiological mechanisms. The aim of this study was to investigate specific changes in electrical brain activity in response to stimulation of four brain areas in patients with PD. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 28, 2021 Category: Neurology Authors: Inbal Maidan, Noa Zifman, Jeffrey M. Hausdorff, Nir Giladi, Ofri Levy-Lamdan, Anat Mirelman Source Type: research

Per-oral image guided gastrojejunostomy insertion for levodopa-carbidopa intestinal gel in Parkinson ’s disease is safe and may be advantageous
We describe our experience of using per-oral image guided gastrojejunostomy (PIG-J) which avoids the need for endoscopy and routine sedation in percutaneous endoscopic gastrojejunostomy (PEG-J) and allows more secure tube placement than radiologically inserted gastrojejunostomy techniques. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 28, 2021 Category: Neurology Authors: Fahd Baig, Mihaela Boca, Lucy Mooney, Lucy Cheminais, Marianna Selikhova, Michal Rolinski, Konrad Szewczyk-Krolikowski, Neil Collin, Alan Whone Tags: Short communication Source Type: research

Long-term effect of bilateral STN-DBS on non-motor symptoms in Parkinson ’s disease: a four-year observational, prospective study
Several studies have shown beneficial effects of bilateral stimulation of the subthalamic nucleus (STN-DBS) on motor as well as on non-motor symptoms (NMS) up to 36 months post-surgery in advanced Parkinson ’s disease (PD) patients. We set to explore the long-term effect of STN-DBS on NMS in a four-year follow-up, prospective, observational study. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 24, 2021 Category: Neurology Authors: Dejan Georgiev, Maru ša Mencinger, Robert Rajnar, Polona Mušič, Mitja Benedičič, Dušan Flisar, Roman Bošnjak, Jan Mehrkens, Zvezdan Pirtošek, Kai Boetzel, Maja Trošt Source Type: research

Coincident parkinsonism and myasthenia gravis: A case series
After querying our institution ’s electronic health record system for patients with primary parkinsonism and myasthenia gravis (MG), we report the cases of 15 patients with Parkinson disease and MG, and a case of Dementia with Lewy Bodies and MG. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 23, 2021 Category: Neurology Authors: Jumana T. Alshaikh, Kelly Mills Tags: Correspondence Source Type: research

The neurological and neuropsychiatric spectrum of adults with late-treated phenylketonuria
Phenylketonuria (PKU) is a rare, treatable inborn error of metabolism with frequent neurological and neuropsychiatric complications, especially in undiagnosed or insufficiently treated individuals. Given the wide range of clinical presentations and the importance of treatment implications, we here delineate the neurological and neuropsychiatric spectrum of a large cohort of previously unreported adults with late-treated PKU. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 22, 2021 Category: Neurology Authors: Tina Mainka, Jan-Frederik Fischer, Julius Huebl, Alexandra Jung, Dinah Lier, Matej Skorvanek, Tom J. de Koning, Andrea A. K ühn, Peter Freisinger, Athanasia Ziagaki, Christos Ganos Source Type: research

DNAJC6 mutation causing cranial-onset dystonia with tremor dominant levodopa non-responsive parkinsonism: A novel phenotype
Dystonia-parkinsonism refers to the conditions where the severity of dystonia usually equates that of parkinsonism. The main genetic conditions presenting with dystonia parkinsonism are disorders of dopamine biosynthesis (GCH1, TH, SPR mutations) deficit of neurotransmitter transporters (SLC6A3, SLC18A2) dystonia-parkinsonism syndromes associated with PRKRA, ATP1A3, TAF1 and TUBB4A mutations, and disorders of metal metabolism (i.e., copper, iron, and manganese) [1]. DNAJC6 gene mutation has been reported to cause autosomal recessive levodopa responsive parkinsonism with motor fluctuations and dyskinesia which is slowly pro...
Source: Parkinsonism and Related Disorders - June 19, 2021 Category: Neurology Authors: Somdattaa Ray, Hansashree Padmanabha, Rohan Mahale, Pooja Mailankody, Gautham Arunachal Tags: Correspondence Source Type: research

Preformed fibrils generated from mouse alpha-synuclein produce more inclusion pathology in rats than fibrils generated from rat alpha-synuclein
Alpha-synuclein ( α-syn) preformed fibril (PFF)-induced pathology can be used to study the features and progression of synucleinopathies, such as Parkinson’s disease. Intrastriatal injection of mouse α-syn PFFs produce accumulation of α-syn pathology in both mice and rats. Previous studies in mice have revealed that greater sequence homology between the α-syn amino acid sequence used to produce PFFs with that of the endogenous host α-syn increases α-syn pathology in vivo. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 18, 2021 Category: Neurology Authors: Jacob W. Howe, Caryl E. Sortwell, Megan F. Duffy, Christopher J. Kemp, Christopher P. Russell, Michael Kubik, Pooja Patel, Kelvin C. Luk, Omar M.A. El-Agnaf, Joseph R. Patterson Source Type: research

Screening of LRP10 mutations in Parkinson ’s disease patients from Italy
Parkinson ’s disease (PD) belongs to a family of neurodegenerative diseases characterized by alpha-synuclein accumulation in neurons, whose etiopathogenesis remains largely uncovered. Recently, LRP10 has been associated with PD, Parkinson’s disease Dementia (PDD) and Dementia with Lewy Bodies (DLB) by lin kage analysis and positional cloning in an Italian family with late-onset PD. After the first characterization of a LRP10 pathogenic variant, other eight mutations have been detected in an international series of 660 probands with either a clinical or pathological diagnosis of PD, PDD or DLB. (Source: Parkinso...
Source: Parkinsonism and Related Disorders - June 18, 2021 Category: Neurology Authors: Arianna Manini, Letizia Straniero, Edoardo Monfrini, Marco Percetti, Maria Vizziello, Giulia Franco, Valeria Rimoldi, Anna Zecchinelli, Gianni Pezzoli, Stefania Corti, Giacomo Pietro Comi, Stefano Duga, Alessio Di Fonzo Tags: Short communication Source Type: research

The prevalence of pain in Huntington ’s Disease in a large worldwide cohort
Pain could be an unknown non-motor symptom in Huntington ’s Disease (HD). The aim is therefore, to study the prevalence of pain interference, painful conditions and analgesic use across the different stages of HD and compare these levels to non-HD gene mutation carriers. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 18, 2021 Category: Neurology Authors: Gregory P. Sprenger, Raymund A.C. Roos, Erik van Zwet, Robert H. Reijntjes, Wilco P. Achterberg, Susanne T. de Bot Source Type: research

Subthalamic deep brain stimulation in lingual dystonia: a case series study
Lingual dystonia is characterized by uncontrolled contractions of tongue muscles, which prevalence is less than 10 cases per 100,000[1]. Since oral-lingual dysfunctions often interfere with daily functions such as chewing, swallowing and verbal communication, patients could suffer from feeding difficulties, social embarrassment, depression, weight loss and reduced quality of life. Currently, for the limited efficacy of oral medication and botulinum toxin injections, surgical interventions, such as globus pallidus interna (GPi) deep brain stimulation (DBS) could be an alternative treatment option[2]. (Source: Parkinsonism a...
Source: Parkinsonism and Related Disorders - June 18, 2021 Category: Neurology Authors: Yunhao Wu, Hongxia Li, Yixin Pan, Peng Huang, Tao Wang, Chencheng Zhang, Bomin Sun, Yiwen Wu, Dianyou Li Tags: Correspondence Source Type: research

Motor and non-motor subtypes of cervical dystonia
Cervical dystonia (CD) is a heterogeneous condition. However, while motor subtypes of CD have recently been identified, it is still unknown whether and how non-motor symptoms contribute to CD heterogeneity. In the present cross-sectional study, we aimed to identify clinical CD subtypes on the basis of motor and non-motor symptoms by using a hypothesis-free data-driven approach. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - June 17, 2021 Category: Neurology Authors: Costanzo Matteo, Belvisi Daniele, Berardelli Isabella, Maraone Annalisa, D ’Antonio Fabrizia, Baione Viola, Toscano Arianna, Ferrazzano Gina, Pasquini Massimo, Conte Antonella, Fabbrini Giovanni, Defazio Giovanni, Berardelli Alfredo Source Type: research