Moving Beyond Movement: Diagnosing Functional Movement Disorder
Semin Neurol DOI: 10.1055/s-0043-1763505Functional movement disorder (FMD) is a complex neuropsychiatric syndrome, encompassing abnormal movements and weakness, and is a common cause of potentially disabling neurological symptoms. It is vital to recognize that FMD is a syndrome, with nonmotor manifestations negatively affecting a patient's quality of life. This review highlights a diagnostic algorithm, where a history suggestive of FMD is combined with the presence of positive signs on examination and appropriate investigations to make the diagnosis. Positive signs indicate internal inconsistency such as variability and di...
Source: Seminars in Neurology - March 9, 2023 Category: Neurology Authors: Gilmour, Gabriela S. Lidstone, Sarah C. Tags: Review Article Source Type: research

Ethical Aspects of Prodromal Synucleinopathy Prognostic Counseling
Semin Neurol DOI: 10.1055/a-2019-0245Alpha-synucleinopathies can be identified in their prodromal phase, raising several ethical issues. In this review, we first provide definitions of prodromal α-synucleinopathies and discuss the importance of distinguishing between prodromes and risk factors. Next, we discuss the implications of a diagnosis of prodromal α-synucleinopathy and considerations regarding prognostic counseling in both clinical and research settings. We review available data on patient preferences regarding disclosure as well as providers' perspectives. We examine the pros and cons of disclosing a diagnosis o...
Source: Seminars in Neurology - March 7, 2023 Category: Neurology Authors: Stefani, Ambra Mozersky, Jessica Kotagal, Vikas H ögl, Birgit Ingravallo, Francesca Ju, Yo-El S. Avidan, Alon Sharp, Richard Videnovic, Aleksandar Schenck, Carlos H. St Louis, Erik K. Tags: Review Article Source Type: research

Diagnostic Uncertainties: Chorea
Semin Neurol DOI: 10.1055/s-0043-1763506Chorea is a hyperkinetic movement disorder with a multitude of potential etiologies, both acquired and inherited. Although the differential diagnosis for new-onset chorea is extensive, there are often clues in the history, exam, and basic testing that can help to narrow the options. Evaluation for treatable or reversible causes should take priority, as rapid diagnosis can lead to more favorable outcomes. While Huntington's disease is most common genetic cause of chorea, multiple phenocopies also exist and should be considered if Huntington gene testing is negative. The decision of wh...
Source: Seminars in Neurology - March 7, 2023 Category: Neurology Authors: Cincotta, Molly C. Walker, Ruth H. Tags: Review Article Source Type: research

Structural and Molecular Imaging for Clinically Uncertain Parkinsonism
Semin Neurol DOI: 10.1055/s-0043-1764228Neuroimaging is an important adjunct to the clinical assessment of Parkinson disease (PD). Parkinsonism can be challenging to differentiate, especially in early disease stages, when it mimics other movement disorders or when there is a poor response to dopaminergic therapies. There is also a discrepancy between the phenotypic presentation of degenerative parkinsonism and the pathological outcome. The emergence of more sophisticated and accessible neuroimaging can identify molecular mechanisms of PD, the variation between clinical phenotypes, and the compensatory mechanisms that occur...
Source: Seminars in Neurology - March 6, 2023 Category: Neurology Authors: Sasikumar, Sanskriti Strafella, Antonio P. Tags: Review Article Source Type: research

Delivering a Diagnosis of Parkinson's Disease and Parkinsonism with Wisdom and Sensitivity
Semin Neurol DOI: 10.1055/s-0043-1763509Parkinson's disease (PD) is a chronic, progressive, complex movement disorder. In addition to the motor manifestations, changes in mood and cognition frequently occur. It is understandable that receiving this diagnosis can be difficult for patients and their significant others. For the clinician, delivering a PD diagnosis can be challenging and requires a comprehensive patient assessment followed by a thoughtful treatment plan. How this diagnosis is conveyed can have a long-term impact on patient outcomes such as treatment adherence, participation in decision making, understanding of...
Source: Seminars in Neurology - February 28, 2023 Category: Neurology Authors: Saint-Hilaire, Marie-H élène Thomas, Cathi-Ann Tags: Review Article Source Type: research

“Unvoluntary” Movement Disorders: Distinguishing between Tics, Akathisia, Restless Legs, and Stereotypies
Semin Neurol DOI: 10.1055/s-0043-1764164Tics, stereotypies, akathisia, and restless legs fall at different places on the spectrum of discrete, unwanted and potentially disabling motor routines. Unlike tremor, chorea, myoclonus, or dystonia, this subgroup of abnormal movements is characterized by the subject's variable ability to inhibit or release undesired motor patterns on demand. Though it may be sometimes clinically challenging, it is crucial to distinguish these “unvoluntary” motor behaviors because secondary causes and management approaches differ substantially. To this end, physicians must consider the degree of...
Source: Seminars in Neurology - February 28, 2023 Category: Neurology Authors: Nilles, Christelle Amorelli, Gabriel Pringsheim, Tamara M. Martino, Davide Tags: Review Article Source Type: research

Genetic Testing in Clinical Movement Disorders: A Case-Based Review
Semin Neurol DOI: 10.1055/s-0043-1763507Genetics are fundamental to understanding the pathophysiology of neurological disease, including movement disorders. Genetic testing in clinical practice has changed dramatically over the last few decades. While the likelihood of establishing an etiological diagnosis is greater now with increased access to testing and more advanced technologies, clinicians face challenges when deciding whether to test, then selecting the appropriate test, and ultimately interpreting and sharing the results with patients and families. In this review, we use a case-based approach to cover core aspects ...
Source: Seminars in Neurology - February 28, 2023 Category: Neurology Authors: Kalia, Lorraine V. Nimmo, Graeme A. M. Mestre, Tiago A. Tags: Review Article Source Type: research

Drug-Induced Movement Disorders
This article reviews the phenomenology, diagnostic criteria, pathophysiology, and management of DIMDs. [...] Thieme Medical Publishers, Inc. 333 Seventh Avenue, 18th Floor, New York, NY 10001, USAArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Seminars in Neurology)
Source: Seminars in Neurology - February 24, 2023 Category: Neurology Authors: Pandey, Sanjay Pitakpatapee, Yuvadee Saengphatrachai, Weerawat Chouksey, Anjali Tripathi, Madhavi Srivanitchapoom, Prachaya Tags: Review Article Source Type: research

Ataxias: Hereditary, Acquired, and Reversible Etiologies
Semin Neurol DOI: 10.1055/s-0043-1763511A variety of etiologies can cause cerebellar dysfunction, leading to ataxia symptoms. Therefore, the accurate diagnosis of the cause for cerebellar ataxia can be challenging. A step-wise investigation will reveal underlying causes, including nutritional, toxin, immune-mediated, genetic, and degenerative disorders. Recent advances in genetics have identified new genes for both autosomal dominant and autosomal recessive ataxias, and new therapies are on the horizon for targeting specific biological pathways. New diagnostic criteria for degenerative ataxias have been proposed, specifica...
Source: Seminars in Neurology - February 24, 2023 Category: Neurology Authors: Lin, Chi-Ying R. Kuo, Sheng-Han Tags: Review Article Source Type: research

Introduction to Diagnostic Challenges in Movement Disorders
Semin Neurol DOI: 10.1055/s-0043-1762913 Thieme Medical Publishers, Inc. 333 Seventh Avenue, 18th Floor, New York, NY 10001, USAArticle in Thieme eJournals: Table of contents  |  Full text (Source: Seminars in Neurology)
Source: Seminars in Neurology - February 17, 2023 Category: Neurology Authors: Mahajan, Abhimanyu Shih, Ludy C. Tags: Introduction Source Type: research

Challenging Cases in Neuroimmunology
Semin Neurol 2022; 42: 695-707 DOI: 10.1055/s-0042-1760100Neuroimmunology is rapidly evolving field extending from well-known, but incompletely understood conditions like multiple sclerosis, to novel antibody-mediated disorders, of which dozens have been described in the past 10 years. The ongoing expansion in knowledge needed to effectively diagnose and treat these patients presents myriad challenges for clinicians. Here, we discuss six informative cases from our institution. By highlighting these challenging cases, we hope to instill fundamental points on the nuances of diagnosis and management for conditions including t...
Source: Seminars in Neurology - January 23, 2023 Category: Neurology Authors: Shah, Anna A. Wolf, Andrew B. Declusin, Anthony Coleman, Kyle Kammeyer, Ryan Khan, Baber Corboy, John R. Tags: Review Article Source Type: research

Challenging Cases in Cerebrovascular Disease
We present four cases of stroke of uncommon cause and remind clinicians to be open minded to the many possible causes of stroke, in particular because early recognition and treatment is often critical. Case 1 discusses a patient with inflammatory cerebral amyloid angiopathy. The presentation, ability to recur, and current treatment considerations are reviewed. Case 2 discusses microangiopathic thrombotic angiopathy. Diagnosis and treatment are considered. An association with interferon therapy and the evolving terminology of this and related conditions are discussed. Case 3 discusses intracranial hemorrhage secondary to ac...
Source: Seminars in Neurology - January 9, 2023 Category: Neurology Authors: Kelly, Michael A. Singh, Jasmine Balabanov, Alexandra Wadina, Adam Dasovic, Braden Tags: Review Article Source Type: research

Challenging Cases of Neurocognitive Disorders
We present here three cases that highlight the decision-making process in the evaluation of patients with atypical presentations of dementia. [...] Thieme Medical Publishers, Inc. 333 Seventh Avenue, 18th Floor, New York, NY 10001, USAArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Seminars in Neurology)
Source: Seminars in Neurology - January 9, 2023 Category: Neurology Authors: Mastrianni, James A. Seibert, Kaitlin Tags: Review Article Source Type: research

Challenging Cases in Neurology Introduction
Semin Neurol 2022; 42: 694-694 DOI: 10.1055/s-0042-1760231 Thieme Medical Publishers, Inc. 333 Seventh Avenue, 18th Floor, New York, NY 10001, USAArticle in Thieme eJournals: Table of contents  |  Full text (Source: Seminars in Neurology)
Source: Seminars in Neurology - January 9, 2023 Category: Neurology Authors: Schneck, Michael J. Biller, Jose Tags: Preface Source Type: research

Michael Schneck, MD, FAHA, FAAN, FACP, and Jose Biller, MD, FACP, FAAN, FANA, FAHA
Semin Neurol 2022; 42: 693-693 DOI: 10.1055/s-0042-1760230 Thieme Medical Publishers, Inc. 333 Seventh Avenue, 18th Floor, New York, NY 10001, USAArticle in Thieme eJournals: Table of contents  |  Full text (Source: Seminars in Neurology)
Source: Seminars in Neurology - January 9, 2023 Category: Neurology Authors: Greer, David M. Tags: Introduction to the Guest Editors Source Type: research