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Current Opinion in Neurology Aug 2023Since the original description of progressive supranuclear palsy (PSP) by Steele, Richardson and Olszewski, the clinical spectrum of PSP has expanded and now includes... (Review)
Review
PURPOSE OF REVIEW
Since the original description of progressive supranuclear palsy (PSP) by Steele, Richardson and Olszewski, the clinical spectrum of PSP has expanded and now includes multiple phenotypic variants linked by a common disease. In this review, we discuss the evolution of the PSP syndrome and clinical criteria, with a particular focus on the 2017 Movement Disorders Society PSP criteria, its application and limitations. We also discuss our current approach to diagnosis and treatment.
RECENT FINDINGS
There is a significant overlap between the different variants of PSP and multiple phenotypes that may be applied to the same patient simultaneously. Variant severity and predominance also evolve throughout the course of the disease. Each variant and level of certainty is associated with different specificity and sensitivity for underlying disease. The differential diagnosis of PSP is continuously evolving and includes other tauopathies, neurodegenerative, genetic, autoimmune and infectious disorders. MRI measurements can aid in the diagnosis. The first guidelines to help with clinical management of those patients have been recently published.
SUMMARY
Although much improved, clinical PSP criteria alone remain insufficient and emphasize the need for improved biomarkers to identify patients at early stages to direct appropriate therapeutic strategies and target potential research.
Topics: Humans; Supranuclear Palsy, Progressive; Movement Disorders; Tauopathies; Diagnosis, Differential; Phenotype
PubMed: 37381926
DOI: 10.1097/WCO.0000000000001163 -
Neurotherapeutics : the Journal of the... Oct 2020
Topics: Animals; Antiparkinson Agents; Botulinum Toxins; Electric Stimulation Therapy; Humans; Movement Disorders
PubMed: 33452629
DOI: 10.1007/s13311-020-00988-2 -
Movement Disorders : Official Journal... Nov 2022The objective of this study was to better delineate the genetic landscape and key clinical characteristics of complex, early-onset, monogenic hyperkinetic movement...
BACKGROUND AND OBJECTIVE
The objective of this study was to better delineate the genetic landscape and key clinical characteristics of complex, early-onset, monogenic hyperkinetic movement disorders.
METHODS
Patients were recruited from 14 international centers. Participating clinicians completed standardized proformas capturing demographic, clinical, and genetic data. Two pediatric movement disorder experts reviewed available video footage, classifying hyperkinetic movements according to published criteria.
RESULTS
One hundred forty patients with pathogenic variants in 17 different genes (ADCY5, ATP1A3, DDC, DHPR, FOXG1, GCH1, GNAO1, KMT2B, MICU1, NKX2.1, PDE10A, PTPS, SGCE, SLC2A1, SLC6A3, SPR, and TH) were identified. In the majority, hyperkinetic movements were generalized (77%), with most patients (69%) manifesting combined motor semiologies. Parkinsonism-dystonia was characteristic of primary neurotransmitter disorders (DDC, DHPR, PTPS, SLC6A3, SPR, TH); chorea predominated in ADCY5-, ATP1A3-, FOXG1-, NKX2.1-, SLC2A1-, GNAO1-, and PDE10A-related disorders; and stereotypies were a prominent feature in FOXG1- and GNAO1-related disease. Those with generalized hyperkinetic movements had an earlier disease onset than those with focal/segmental distribution (2.5 ± 0.3 vs. 4.7 ± 0.7 years; P = 0.007). Patients with developmental delay also presented with hyperkinetic movements earlier than those with normal neurodevelopment (1.5 ± 2.9 vs. 4.7 ± 3.8 years; P < 0.001). Effective disease-specific therapies included dopaminergic agents for neurotransmitters disorders, ketogenic diet for glucose transporter deficiency, and deep brain stimulation for SGCE-, KMT2B-, and GNAO1-related hyperkinesia.
CONCLUSIONS
This study highlights the complex phenotypes observed in children with genetic hyperkinetic movement disorders that can lead to diagnostic difficulty. We provide a comprehensive analysis of motor semiology to guide physicians in the genetic investigation of these patients, to facilitate early diagnosis, precision medicine treatments, and genetic counseling. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Topics: Child; Humans; Hyperkinesis; Movement Disorders; Dystonic Disorders; Chorea; Dystonia; Nerve Tissue Proteins; Forkhead Transcription Factors; Phosphoric Diester Hydrolases; Sodium-Potassium-Exchanging ATPase; GTP-Binding Protein alpha Subunits, Gi-Go
PubMed: 36054588
DOI: 10.1002/mds.29182 -
Revue Neurologique May 2020Functional movement disorders (FMD) represent a complex and disabling entity characterized by a broad range of clinical symptoms not explained by a classical... (Review)
Review
Functional movement disorders (FMD) represent a complex and disabling entity characterized by a broad range of clinical symptoms not explained by a classical neurological disease. In 2013, the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) added a clinical criterion based on incongruence and inconsistency, supported by recent literature highlighting the role of "positive clinical signs". These clinical signs allow a "rule-in" procedure in making a diagnosis of FMD so that the diagnosis is no longer a "rule-out" or "by default" diagnosis made after exclusion of other neurological conditions. This review summarizes current evidence on common clinical features and highlights bedside signs in FMD, such as tremor, dystonia, myoclonus and parkinsonism. Tics, chorea and hemiballism are also briefly discussed.
Topics: Diagnostic Techniques, Neurological; Diagnostic and Statistical Manual of Mental Disorders; History, 21st Century; Humans; Movement Disorders
PubMed: 31606137
DOI: 10.1016/j.neurol.2019.08.007 -
Seminars in Neurology Feb 2023Drug-induced movement disorders (DIMDs) are most commonly associated with typical and atypical antipsychotics. However, other drugs such as antidepressants,... (Review)
Review
Drug-induced movement disorders (DIMDs) are most commonly associated with typical and atypical antipsychotics. However, other drugs such as antidepressants, antihistamines, antiepileptics, antiarrhythmics, and gastrointestinal drugs can also cause abnormal involuntary movements. Different types of movement disorders can also occur because of adverse drug reactions. Therefore, the important key to diagnosing DIMDs is a causal relationship between potential offending drugs and the occurrence of abnormal movements. The pathophysiology of DIMDs is not clearly understood; however, many cases of DIMDs are thought to exert adverse mechanisms of action in the basal ganglia. The treatment of some DIMDs is quite challenging, and removing the offending drugs may not be possible in some conditions such as withdrawing antipsychotics in the patient with partially or uncontrollable neuropsychiatric conditions. Future research is needed to understand the mechanism of DIMDs and the development of drugs with better side-effect profiles. This article reviews the phenomenology, diagnostic criteria, pathophysiology, and management of DIMDs.
Topics: Humans; Antipsychotic Agents; Movement Disorders; Basal Ganglia
PubMed: 36828011
DOI: 10.1055/s-0043-1763510 -
Journal of the Neurological Sciences Feb 2022Ataxia is not a common feature in Parkinson's disease. Nevertheless, some rare forms of parkinsonism have ataxia as one of the main features in their clinical picture,... (Review)
Review
Ataxia is not a common feature in Parkinson's disease. Nevertheless, some rare forms of parkinsonism have ataxia as one of the main features in their clinical picture, especially those with juvenile or early-onset. On the other side, in cerebellar degenerative diseases, parkinsonism might accompany the typical symptoms and even become predominant in some cases. Many disorders involving different neurological systems present with a movement phenomenology reflecting the underlying pattern of pathological involvement, such as neurodegeneration with brain iron accumulation, neurodegeneration associated with calcium deposition, and metabolic and mitochondrial disorders. The prototype of sporadic disorders that present with a constellation of symptoms due to the involvement of multiple Central Nervous System regions is multiple system atrophy, whose motor symptoms at onset can be cerebellar ataxia or parkinsonism. Clinical syndromes encompassing both parkinsonian and cerebellar features might represent a diagnostic challenge for neurologists. Recognizing acquired and potentially treatable causes responsible for complex movement disorders is of paramount importance, since an early diagnosis is essential to prevent permanent consequences. The present review aims to provide a pragmatic overview of the most common diseases characterized by the coexistence of cerebellar and parkinsonism features and suggests a possible diagnostic approach for both inherited and sporadic disorders. This article is part of the Special Issue "Parkinsonism across the spectrum of movement disorders and beyond" edited by Joseph Jankovic, Daniel D. Truong and Matteo Bologna.
Topics: Ataxia; Cerebellar Ataxia; Humans; Multiple System Atrophy; Parkinson Disease; Parkinsonian Disorders
PubMed: 34711421
DOI: 10.1016/j.jns.2021.120020 -
The Veterinary Clinics of North... Aug 2022Movement disorders are defined as involuntary movements that are not due to a painful stimulus or associated with changes in consciousness or proprioception. Diagnosis... (Review)
Review
Movement disorders are defined as involuntary movements that are not due to a painful stimulus or associated with changes in consciousness or proprioception. Diagnosis involves ruling out any lameness and neurologic disease and characterizing the gait during walking backward and forward and trotting. Shivers causes abnormal hindlimb hypertonicity during walking backward and, when advanced, a few strides walking forward. Stringhalt causes consistent hyperflexion during walking forward and trotting and variable difficulty when walking backward. Classification and potential causes are discussed as well as other enigmatic movement disorders in horses are presented. Cerebellar abiotrophy is reviewed.
Topics: Animals; Gait; Horse Diseases; Horses; Lameness, Animal; Movement; Movement Disorders
PubMed: 35811199
DOI: 10.1016/j.cveq.2022.05.009 -
Tremor and Other Hyperkinetic Movements... 2021Task-specific dystonia (TSD) is a form of focal dystonia that occurs in the context of the performance of selective, highly skilled, often repetitive, motor activity.... (Review)
Review
BACKGROUND
Task-specific dystonia (TSD) is a form of focal dystonia that occurs in the context of the performance of selective, highly skilled, often repetitive, motor activity. TSD may be apparent during certain tasks such as writing, playing musical instruments, or other activities requiring fine motor control, but may also occur during certain sports, and maybe detrimental to professional athletes' careers. Therefore, sports physicians and movement disorder neurologists need to be aware of the presentation and phenomenology of sports-related dystonia (SRD), the topic of this review.
METHODS
A broad PubMed search using a wide range of keywords and combinations was done in October 2021 to identify suitable articles for this review.
RESULTS
Most of the publications are on yips in golfers and on runners' dystonia. Other sports in which SRD has been reported are ice skating, tennis, table tennis, pistol shooting, petanque, baseball, and billiards.
DISCUSSION
Yips, which may affect up to half of the golfers and rarely athletes in other sports (e.g., baseball, cricket, basketball, speed skating, gymnastics) seems to be a multi-factorial form of TSD that is particularly troublesome in highly skilled professional golfers. Runners' dystonia, affecting the foot, leg, and hip (in decreasing order), may evolve into more generalized and less specific dystonia. The pathophysiologic mechanisms of SRD are not well understood. Botulinum toxin has been reported to alleviate dystonia in golfers', runners', and other forms of SRD. Future studies should utilize neurophysiologic, imaging, and other techniques to elucidate mechanisms of this underrecognized group of movement disorders.
Topics: Dystonia; Dystonic Disorders; Golf; Humans; Movement Disorders
PubMed: 35036047
DOI: 10.5334/tohm.670 -
Movement Disorders : Official Journal... Mar 2024At present, clinical practice and research in movement disorders (MDs) focus on the "normalization" of altered movements. In this review, rather than concentrating on... (Review)
Review
At present, clinical practice and research in movement disorders (MDs) focus on the "normalization" of altered movements. In this review, rather than concentrating on problems and burdens people with MDs undoubtedly have, we highlight their hidden potentials. Starting with current definitions of Parkinson's disease (PD), dystonia, chorea, and tics, we outline that solely conceiving these phenomena as signs of dysfunction falls short of their complex nature comprising both problems and potentials. Such potentials can be traced and understood in light of well-established cognitive neuroscience frameworks, particularly ideomotor principles, and their influential modern derivatives. Using these frameworks, the wealth of data on altered perception-action integration in the different MDs can be explained and systematized using the mechanism-oriented concept of perception-action binding. According to this concept, MDs can be understood as phenomena requiring and fostering flexible modifications of perception-action associations. Consequently, although conceived as being caught in a (trough) state of deficits, given their high flexibility, people with MDs also have high potential to switch to (adaptive) peak activity that can be conceptualized as hidden potentials. Currently, clinical practice and research in MDs are concerned with deficits and thus the "deep and wide troughs," whereas "scattered narrow peaks" reflecting hidden potentials are neglected. To better delineate and utilize the latter to alleviate the burden of affected people, and destigmatize their conditions, we suggest some measures, including computational modeling combined with neurophysiological methods and tailored treatment. © 2024 International Parkinson and Movement Disorder Society.
Topics: Humans; Movement Disorders; Parkinson Disease; Tics; Dystonia; Chorea
PubMed: 38196315
DOI: 10.1002/mds.29706 -
Continuum (Minneapolis, Minn.) Oct 2022This article reviews the role of palliative care in the treatment of patients with life-limiting neurodegenerative movement disorders. (Review)
Review
PURPOSE OF REVIEW
This article reviews the role of palliative care in the treatment of patients with life-limiting neurodegenerative movement disorders.
RECENT FINDINGS
Growing evidence indicates that palliative care significantly improves quality of life and symptom burden for people with Parkinson disease and other serious movement disorders, while reducing caregiver burnout. An emphasis on advance care planning guides goal-directed treatment recommendations. Serious illness communication skills are evidence-based methods of relaying bad medical news to patients and mapping out values and goals in a way that provides comfort, emphasizes patient autonomy, and builds coping and resiliency strategies.
SUMMARY
Palliative care, when offered alongside primary medical and neurologic teams, provides an extra layer of support for people with serious illnesses. The goal of palliative care is to intensively treat total pain, which includes all of the physical, emotional, social, and spiritual distress caused by serious illness. Serious illness communication skills are key to providing empathic and goal-concordant care.
Topics: Advance Care Planning; Humans; Movement Disorders; Pain; Palliative Care; Quality of Life
PubMed: 36222775
DOI: 10.1212/CON.0000000000001162