Movement Disorders Clinical Practice最新文献

{"title":"Parkinsonism after uncal herniation-an overlooked false localizing sign?","authors":"Arthur W G Buijink, Stefanie de Vries, P Richard Schuurman, Andries van Iperen, Joke M Dijk","doi":"10.1002/mdc3.13964","DOIUrl":"10.1002/mdc3.13964","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11322587/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139087638","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous GNAL Mutations.","authors":"Luca Magistrelli, Elena Contaldi, Beatrice Piola, Fjorilda Caushi, Miryam Carecchio, Sandra D'Alfonso, Lucia Corrado","doi":"10.1002/mdc3.14124","DOIUrl":"10.1002/mdc3.14124","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11329568/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141288361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expanding the Spectrum of GBA1-Associated Neurodegenerative Diseases in an Italian Family.","authors":"Cristiano Sorrentino, Giovanna Dati, Sofia Cuoco, Paolo Barone, Maria Teresa Pellecchia","doi":"10.1002/mdc3.14146","DOIUrl":"10.1002/mdc3.14146","url":null,"abstract":"<p><strong>Background: </strong>Heterozygous mutations in GBA1 gene are known as most common genetic risk factor for Parkinson's disease (PD). However, role of GBA1 mutations in non-α-synuclein disorders is unclear.</p><p><strong>Cases: </strong>Case index, 76 year-old woman referred to our movement disorders outpatient clinic for 2-year history of gait impairment, falls and motor slowness, with partial response to levodopa. Clinical and instrumental examinations were consistent with Progressive Supranuclear Palsy-Corticobasal Syndrome (PSP-CBS). Case 2 is older sister reporting depressive symptoms; however, she had dementia (MMSE 18/30), gait apraxia and vertical supranuclear gaze palsy (VSNGP). Case 3 is her deceased older sister who had been diagnosed with Corticobasal Syndrome (CBS). Case 4, older brother had been diagnosed with Parkinson's disease-dementia (PDD) with good response to levodopa. Two affected living siblings harboring same genetic variant.</p><p><strong>Conclusions: </strong>To our knowledge, this is the first family showing such intrafamilial variability ranging from CBS to PDD to dementia.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11329572/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141331480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"\"Alternating\" the Diagnosis after 40 Years of Disease: The Thousand Faces of ATP1A3 Mutation.","authors":"Silvia Gallo, Fabienne Ory-Magne, Clémence Leung, Margherita Fabbri, Bastien Estublier, Emmanuel Cheuret, Olivier Patat, Raquel Pinheiro Barbosa","doi":"10.1002/mdc3.13980","DOIUrl":"10.1002/mdc3.13980","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11322589/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139513414","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Understanding Anxiety in Cervical Dystonia: An Imaging Study.","authors":"Abhimanyu Mahajan, Travis Stoub, David A Gonzalez, Glenn Stebbins, Gabrielle Gray, Tila Warner-Rosen, Dana Sugar, Caroline Pylypyuk, Mandy Yu, Cynthia Comella","doi":"10.1002/mdc3.14070","DOIUrl":"10.1002/mdc3.14070","url":null,"abstract":"<p><strong>Background: </strong>Anxiety may precede motor symptoms in cervical dystonia (CD) and is associated with an earlier onset of dystonia. Our understanding of anxiety in CD is inadequate.</p><p><strong>Objective: </strong>To investigate brain networks associated with anxiety in CD.</p><p><strong>Methods: </strong>Twenty-six subjects with idiopathic CD underwent MRI Brain without contrast. Correlational tractography was derived using Diffusion MRI connectometry. Quantitative Anisotropy (QA) was used in deterministic diffusion fiber tracking. Correlational tractography was then used to correlate QA with State-Trait Anxiety Inventory (STAI) state (STAI-S) and trait (STAI-T) subscales.</p><p><strong>Results: </strong>Connectometry analysis showed direct correlation between state anxiety and QA in tracts from amygdala to thalamus/ pulvinar bilaterally, and trait anxiety and QA in tracts from amygdala to motor cortex, sensorimotor cortex and parietal association area bilaterally (FDR ≤0.05).</p><p><strong>Conclusion: </strong>Our efforts to map anxiety to brain networks in CD highlight the role of the amygdala in the pathophysiology of anxiety in CD.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11329561/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140922890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anticipating Tomorrow: Tailoring Parkinson's Symptomatic Therapy Using Predictors of Outcome.","authors":"Ronald B Postuma, Daniel Weintraub, Tanya Simuni, Mayela Rodríguez-Violante, Albert F G Leentjens, Michele T Hu, Alberto J Espay, Roberto Erro, Kathy Dujardin, Nicolaas I Bohnen, Daniela Berg, Tiago A Mestre, Connie Marras","doi":"10.1002/mdc3.14089","DOIUrl":"10.1002/mdc3.14089","url":null,"abstract":"<p><strong>Background: </strong>Although research into Parkinson's disease (PD) subtypes and outcome predictions has continued to advance, recommendations for using outcome prediction to guide current treatment decisions remain sparse.</p><p><strong>Objectives: </strong>To provide expert opinion-based recommendations for individually tailored PD symptomatic treatment based on knowledge of risk prediction and subtypes.</p><p><strong>Methods: </strong>Using a modified Delphi approach, members of the Movement Disorders Society (MDS) Task Force on PD subtypes generated a series of general recommendations around the question: \"Using what you know about genetic/biological/clinical subtypes (or any individual-level predictors of outcome), what advice would you give for selecting symptomatic treatments for an individual patient now, based on what their subtype or individual characteristics predict about their future disease course?\" After four iterations and revisions, those recommendations with over 75% endorsement were adopted.</p><p><strong>Results: </strong>A total of 19 recommendations were endorsed by a group of 13 panelists. The recommendations primarily centered around two themes: (1) incorporating future risk of cognitive impairment into current treatment plans; and (2) identifying future symptom clusters that might be forestalled with a single medication.</p><p><strong>Conclusions: </strong>These recommendations provide clinicians with a framework for integrating future outcomes into patient-specific treatment choices. They are not prescriptive guidelines, but adaptable suggestions, which should be tailored to each individual. They are to be considered as a first step of a process that will continue to evolve as additional stakeholders provide new insights and as new information becomes available. As individualized risk prediction advances, the path to better tailored treatment regimens will become clearer.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11329576/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141179818","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pick's Disease Presenting as Tremulous Parkinsonism with Limited Levodopa Response-A Rare Cause of Corticobasal Syndrome.","authors":"Shakya Bhattacharjee, William Scotton, Ibrahim Djoukhadar, Yvonne S Davidson, James Minshull, Andrew C Robinson, Federico Roncaroli, Christopher Kobylecki","doi":"10.1002/mdc3.14125","DOIUrl":"10.1002/mdc3.14125","url":null,"abstract":"<p><strong>Background: </strong>Corticobasal syndrome is a clinical diagnosis and common pathological causes are corticobasal degeneration, progressive supranuclear palsy and Alzheimer's disease.</p><p><strong>Objectives: </strong>We would like to highlight a rare but important differential of corticobasal syndrome.</p><p><strong>Methods: </strong>A 78-year-old female had a 4-year history of predominantly right-hand rest tremor, worsening of handwriting but no change in cognition. The clinical examination showed right upper limb postural and kinetic tremor, mild wrist rigidity and reduced amplitude of right-sided finger tapping. She was initially diagnosed as idiopathic Parkinson's disease. Five years after onset of symptoms, she demonstrated bilateral myoclonic jerks and right upper limb dystonic posturing. She could not copy movements with the right hand. The magnetic resonance imaging (MRI) revealed disproportionate atrophy in the parietal lobes bilaterally. The clinical diagnosis was changed to probable corticobasal syndrome. She passed away 11 years from onset of symptoms at the age of 85 years. She underwent a post-mortem.</p><p><strong>Results: </strong>The anterior and posterior frontal cortex, anterior cingulate, temporal neocortex, hippocampus and amygdaloid complex demonstrated considerable tau-related pathology consisting of a dense background of neuropil threads, and rounded, paranuclear neuronal inclusions consistent with Pick bodies. The immunostaining for three microtubule binding domain repeats (3R) tau performed on sections from the frontal and temporal lobes, basal ganglia and midbrain highlighted several inclusions whilst no 4R tau was observed. She was finally diagnosed with Pick's disease.</p><p><strong>Conclusions: </strong>Pick's disease can rarely present with clinical features of corticobasal syndrome.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11329554/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141200107","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Widening the Phenotype of Fragile-X Tremor Ataxia Syndrome in Females: Spasmodic Dysphonia in Two Patients.","authors":"Sana Khan, Stefan Williams, Jeremy Cosgrove, John Bamford, Jane Alty","doi":"10.1002/mdc3.14061","DOIUrl":"10.1002/mdc3.14061","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11329571/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141176181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"How Do I Examine Laryngeal Dystonia?","authors":"Daniel G Di Luca, Joel S Perlmutter, Randal C Paniello, Scott Norris","doi":"10.1002/mdc3.14131","DOIUrl":"10.1002/mdc3.14131","url":null,"abstract":"<p><p>Laryngeal dystonia is a potentially disabling task specific dystonia primarily affecting speech. The evaluation and diagnosis of laryngeal dystonia remain challenging, and often require a multi-disciplinary approach, involving collaboration among speech language pathologists, neurologists and laryngologists (1-5). It is crucial to correctly differentiate between the types of laryngeal dystonia due to the distinct therapeutic approaches and responses to botulinum toxin therapy or speech therapy. For educational purposes, we have divided laryngeal dystonia into two main types: adductor and abductor dystonia. In this article, we describe a series of examination techniques that can assist movement disorders neurologists diagnosing this condition, and appropriately differentiating the most common forms of laryngeal dystonia.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11329560/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141498523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Aceruloplasminemia: Unique Clinical and MRI Findings in a Patient with a Novel Frameshift Mutation.","authors":"Fabiana Colucci, Silvia Barca, Roberto Cilia, Valentino De Franco, Antonio E Elia, Nico Golfrè Andreasi, Luigi Romito, Roberta Telese, Arianna Braccia, Valentina Leta, Marina Grisoli, Celeste Panteghini, Barbara Garavaglia, Grazia Devigili, Roberto Eleopra","doi":"10.1002/mdc3.14000","DOIUrl":"10.1002/mdc3.14000","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11322588/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139940318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}