Review
Clinical Neurology
Poonam Bhatia, Jennifer Heim, Patricia Cornejo, Lauren Kane, Jason Santiago, Michael C. Kruer
Summary: Opsoclonus-myoclonus-ataxia syndrome is a rare neuroimmunologic disorder that typically occurs in infants and toddlers, with about half of cases associated with neuroblastoma. The syndrome is characterized by saccadic intrusions, myoclonus, and behavioral abnormalities, and historically had poor long-term outcomes. Recent immunotherapy regimens offer hope for better outcomes in these children.
JOURNAL OF NEUROLOGY
(2022)
Article
Medicine, General & Internal
Li-Shu Wang, Teng-Fei Yu, Bin Chai, Wen He
Summary: This study evaluated the application of transcranial sonography (TCS) for the differential diagnosis of Parkinson disease (PD) and other movement disorders in Chinese individuals. The results showed that SN positivity effectively differentiated PD from ET, PSP, and MSA, while the incidence of lenticular hyperechoic area also played a role in distinguishing between these diseases.
CHINESE MEDICAL JOURNAL
(2021)
Review
Food Science & Technology
Charenya Anandan, Joseph Jankovic
Summary: BoNT has evolved into a therapeutic modality for a variety of neurological and non-neurological disorders since its initial approval in 1989. It has shown effectiveness in treating neurologic movement disorders and is being researched for potential central nervous system applications. BoNT is considered safe when administered by knowledgeable clinicians and has shown promise in recent innovative pilot studies.
Article
Clinical Neurology
Belen Perez-Duenas, Kathleen Gorman, Anna Marce-Grau, Juan D. Ortigoza-Escobar, Alfons Macaya, Federica R. Danti, Katy Barwick, Apostolos Papandreou, Joanne Ng, Esther Meyer, Shekeeb S. Mohammad, Martin Smith, Francesco Muntoni, Pinki Munot, Johanna Uusimaa, Paivi Vieira, Eammon Sheridan, Renzo Guerrini, Jan Cobben, Sanem Yilmaz, Elisa De Grandis, Russell C. Dale, Roser Pons, Kathryn J. Peall, Vincenzo Leuzzi, Manju A. Kurian
Summary: This study delineates the genetic landscape and key clinical characteristics of complex, early-onset, monogenic hyperkinetic movement disorders, highlighting the importance of comprehensive analysis in guiding physicians for genetic investigation, early diagnosis, precision treatment, and genetic counseling.
MOVEMENT DISORDERS
(2022)
Article
Clinical Neurology
Serena Galosi, Ban H. Edani, Simone Martinelli, Hana Hansikova, Erik A. Eklund, Caterina Caputi, Laura Masuelli, Nicole Corsten-Janssen, Myriam Srour, Renske Oegema, Danielle G. M. Bosch, Colin A. Ellis, Louise Amlie-Wolf, Andrea Accogli, Isis Atallah, Luisa Averdunk, Kristin W. Baranano, Roberto Bei, Irene Bagnasco, Alfredo Brusco, Scott Demarest, Anne-Sophie Alaix, Carlo Di Bonaventura, Felix Distelmaier, Frances Elmslie, Ziv Gan-Or, Jean-Marc Good, Karen Gripp, Erik-Jan Kamsteeg, Ellen Macnamara, Carlo Marcelis, Noelle Mercier, Joseph Peeden, Simone Pizzi, Luca Pannone, Marwan Shinawi, Camilo Toro, Nienke E. Verbeek, Sunita Venkateswaran, Patricia G. Wheeler, Lucie Zdrazilova, Rong Zhang, Giovanna Zorzi, Renzo Guerrini, William C. Sessa, Dirk Lefeber, Marco Tartaglia, Fadi F. Hamdan, Kariona A. Grabinska, Vincenzo Leuzzi
Summary: This study investigated the variants in the DHDDS gene and found that they are associated with a new neurodegenerative disorder characterized by symptoms such as neurodevelopmental disorders, epilepsy, myoclonus, and cognitive decline. The study also revealed dysfunctional lysosomal enzymatic scavenger machinery.
Review
Clinical Neurology
Vanessa Carvalho, Joaquim J. Ferreira, Leonor Correia Guedes
Summary: The landscape of genetic forms of Parkinson's diseases has been expanding rapidly in recent years. A review found that aneuploidies of sex chromosomes were the most common chromosomal abnormalities associated with parkinsonism and tremor syndromes, while structural chromosomal disorders were often linked to Parkinson's disease and 22q11.2 deletion syndrome, with additional case reports of deletion and duplication syndromes also identified.
MOVEMENT DISORDERS
(2021)
Article
Clinical Neurology
Sangeetha Yoganathan, Madhan Kumar, Suvasini Sharma, Smruti Patel, Sumita Danda, Maya Thomas
Summary: A 5-year-old girl presented with myoclonus and frequent falls for 2.5 years. A pathogenic heterozygous nonsense variant in exon 3 of the SGCE gene was identified.
Article
Clinical Neurology
Dina Ben Mohamed, Rania Zouari, Jihen Ketata, Fatma Nabli, Samir Blel, Samia Ben Sassi
Summary: The coronavirus virus (COVID-19) pandemic has shown that the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV2) can cause neurological symptoms, including myoclonus. We report the first case of myoclonus status as the inaugural and sole symptom of COVID-19 in a conscious patient.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2023)
Article
Clinical Neurology
Edoardo Ferlazzo, Michele Ascoli, Francesca Abate, Sara Gasparini, Giovanni Mastroianni, Vittoria Cianci, Giulia Ferrigno, Chiara Sueri, Tiziana D'Agostino, Umberto Aguglia
Summary: Dystonia is a common and previously underestimated clinical feature in adults and adolescents with AS, with 93.3% of subjects showing dystonia, mainly affecting the upper limbs. The severity of dystonia ranges from slight to moderate, with a linear correlation between severity and age.
JOURNAL OF NEUROLOGY
(2021)
Article
Medicine, General & Internal
Camilla Elefante, Giulio Emilio Brancati, Silvia Bacciardi, Sonia Mazzucchi, Eleonora Del Prete, Giovanni Palermo, Daniela Frosini, Ubaldo Bonuccelli, Roberto Ceravolo, Lorenzo Lattanzi, Icro Maremmani, Giulio Perugi
Summary: Mood and anxiety disorders are common neuropsychiatric syndromes associated with Parkinson's disease. Patients with anxiety disorders in PD tend to have a history of psychiatric symptoms, lifetime major depression, and higher anxiety scores. Current anxiety disorders in PD are linked to more severe psychopathology, depressive symptoms, and avoidant behavior.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Clinical Neurology
Ana L. C. Martimbianco, Fabio C. Prosdocimi, Camillo Anauate-Netto, Elaine M. dos Santos, Gustavo D. Mendes, Yara D. Fragoso
Summary: Patients with Parkinson's disease have poor oral health, with conditions that are mostly preventable. Most studies provide class IV evidence, while one paper offers class II evidence.
NEUROLOGY AND THERAPY
(2021)
Article
Chemistry, Analytical
Julius Welzel, David Wendtland, Elke Warmerdam, Robbin Romijnders, Morad Elshehabi, Johanna Geritz, Daniela Berg, Clint Hansen, Walter Maetzler
Summary: Current research on Parkinson's disease is focusing on identifying objective markers for assessing therapy effects and disease progression. This study found that step length has a significant impact on PD progression, while step time shows minimal change, emphasizing the importance of evaluating quantitative gait parameters for making assumptions about disease progression in chronic progressive diseases like PD.
Review
Clinical Neurology
Lennart H. Stieglitz, Markus F. Oertel, Ettore A. Accolla, Julien Bally, Roland Bauer, Christian R. Baumann, David Benninger, Stephan Bohlhalter, Fabian Buechele, Stefan Haegele-Link, Georg Kaegi, Paul Krack, Marie T. Krueger, Sujitha Mahendran, J. Carsten Moeller, Veit Mylius, Tobias Piroth, Beat Werner, Alain Kaelin-Lang
Summary: This study summarizes and unifies the knowledge and experience of the Swiss neurological and neurosurgical communities regarding MRgHiFUS interventions for brain disorders, aiming to publish a national consensus paper. The research emphasizes the need for standardization and safe implementation of MRgHiFUS treatments in functional neurosurgery.
FRONTIERS IN NEUROLOGY
(2021)
Article
Multidisciplinary Sciences
Lewis A. Ingram, Vincent K. Carroll, Annie A. Butler, Matthew A. Brodie, Simon C. Gandevia, Stephen R. Lord
Summary: The study evaluated the validity of the upper limb Physiological Profile Assessment (PPA) in people with Parkinson's disease (PD) and found that the PPA can effectively differentiate PD patients from healthy controls and detect differences in upper limb test domains between different medication states. Six key tests, including handgrip strength, finger-press reaction time, 9-hole peg test, bimanual pole test, arm stability, and shirt buttoning, were identified for assessing upper limb function in PD patients. These findings suggest that clinical assessments in PD patients should prioritize tests of muscle strength, unilateral movement and dexterity, bimanual coordination, arm stability and functional tasks.
Article
Orthopedics
Mark M. Manago, Laura A. Swink, Emily R. Hager, Robyn Gisbert, Gammon M. Earhart, Cory L. Christiansen, Margaret Schenkman
Summary: The study found that during the COVID-19 pandemic, there was a decrease in in-person exercise class participation for people with PD and an increase in virtual classes. However, virtual classes may not fully meet the needs of patients, with primary barriers being technology issues and lack of social interaction.
Article
Clinical Neurology
Jun-Pyo Hong, Hanim Kwon, Euyhyun Park, Sun-Uk Lee, Chan-Nyoung Lee, Byung-Jo Kim, Ji-Soo Kim, Kun-Woo Park
Summary: In patients with mild-to-moderate PD, vestibular function assessed by video head-impulse tests appears relatively preserved and has minimal impact on the risk of falls. Risk of postural instability is associated with the severity of clinical symptoms in PD.
PARKINSONISM & RELATED DISORDERS
(2024)
Article
Clinical Neurology
Yaqin Xiang, XiuRong Huang, Qian Xu, Zhenhua Liu, Yase Chen, Qiying Sun, Junling Wang, Hong Jiang, Lu Shen, Xinxiang Yan, Beisha Tang, Jifeng Guo
Summary: Using the novel data-driven method DEBM, this study determined the sequence of several common biomarker changes in Parkinson's disease (PD). The left putamen was found to be the earliest biomarker to become abnormal, followed by the right putamen, CSF alpha-synuclein, right caudate, left caudate, and serum NfL. The estimated disease stages showed significant differences between PD and healthy controls, and achieved a high accuracy for distinguishing PD from HC.
PARKINSONISM & RELATED DISORDERS
(2024)
Article
Clinical Neurology
Yan Li, David J. McLernon, Carl E. Counsell, Angus D. Macleod
Summary: This study aimed to investigate the incidence and risk factors for institutionalisation in Parkinson's disease (PD) and atypical parkinsonism (AP). The study found that institutionalisation was more frequent in AP compared to PD and controls. Age, poorer cognition, and more-severe parkinsonian impairment were independent predictors of institutionalisation.
PARKINSONISM & RELATED DISORDERS
(2024)
