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Non-Parkinson movement disorders: Five new things.

ABSTRACT: SOLUTIONS TO THE MAJOR RIDDLES IN MOVEMENT DISORDERS ARE APPEARING AT A BREATHTAKING PACE: 1) loss-of-function mutations in PRRT2, which encodes a cell surface protein expressed in neurons, have been found in many patients with paroxysmal kinesigenic dyskinesias; 2) mutations in CIZ1, which encodes a protein involved in cell-cycle control at the G1-S checkpoint, have been identified in a small percentage of patients with cervical dystonia; and 3) finally, after many years of genetics and identification of more than 25 disease-associated genes, cellular studies related to the pathobiology of hereditary spastic paraplegia are converging on defects in modeling the endoplasmic reticulum and membrane trafficking. On the treatment front, the distinctive syndromes of faciobrachial dystonic seizures with anti-LRI1 antibodies and anti-N-methyl-d-aspartic acid encephalitis with orobuccolingual dyskinesias are becoming increasingly recognized by clinicians as imminently treatable conditions. Also on the treatment front, the first phase I trial of MRI-guided high-intensity focused ultrasound for essential tremor has been completed and intraoperative MRI is currently being used to place electrodes in the brains of patients with medically intractable dystonia. Definitive etiologies and efficacious treatments for non-Parkinson disease movement disorders are no longer wishful thinking.

SUBMITTER: Ledoux MS

PROVIDER: S-EPMC3613216 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature

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Non-Parkinson movement disorders: Five new things.

Ledoux Mark S MS

Neurology. Clinical practice 20130201 1

SOLUTIONS TO THE MAJOR RIDDLES IN MOVEMENT DISORDERS ARE APPEARING AT A BREATHTAKING PACE: 1) loss-of-function mutations in <i>PRRT2</i>, which encodes a cell surface protein expressed in neurons, have been found in many patients with paroxysmal kinesigenic dyskinesias; 2) mutations in <i>CIZ1</i>, which encodes a protein involved in cell-cycle control at the G1-S checkpoint, have been identified in a small percentage of patients with cervical dystonia; and 3) finally, after many years of geneti ...[more]

PMID: 23634381

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Project description:ObjectiveTo describe the characteristics of people with Parkinson disease and movement disorders (PDMDs) referred by neurologist to a physiatrist-led interdisciplinary rehabilitation screening program.DesignRetrospective data analysis of electronic health records (EMRs).SettingOutpatient PDMD neurology clinic and an interdisciplinary rehabilitation hospital's PDMD screening program.ParticipantsPeople with PDMDs referred by neurologists to the interdisciplinary rehabilitation screening program from 2009-2017 (n=934), with early referrals from 2009-2015 (n=449) and recently referred from 2015-2017 (n=485), and patients who had new interdisciplinary rehabilitation screening program evaluations from 2015-2017 (n=183).InterventionParticipation in the physiatrist-led PDMD screening clinic.Main outcome measuresDemographics, disease-related features, timed Up and Go, conversational voice volume, recommended therapy services, and number of therapies completed 90 days following interdisciplinary rehabilitation screening program.ResultsPeople referred from the neurologists to the interdisciplinary rehabilitation screening program from 2009-2017 were 72±12.9 years old, male (56%), white (65%), and with 1 or more comorbidities (62%). Compared with early referrals from 2009-2015, more recently referred participants from 2015-2017 were younger (P<.001) and earlier in disease duration (P=.036). The interdisciplinary rehabilitation screening program participants from 2015-2017 had mean timed Up and Go time of 15.4±10.1 seconds and a mean conversational voice volume of 68.98±4.7 dB.ConclusionsThe interdisciplinary rehabilitation screening program was sustained with increased number of referrals over time, occurring earlier in the disease in more recent years. Key strategies used to sustain the program over time include development of a unique referral order set for the neurologists, implementation of a comprehensive screen tool in the rehabilitation hospital EMR, and centralized communication through social workers at both facilities.

Project description:IntroductionMovement disorders are increasingly described in hospitalized and milder cases of SARS-CoV-2 infection, despite a very low prevalence compared to the total patients.MethodsWe reviewed the scientific literature published in English, spanning from the initial descriptions of COVID-19 until January 25, 2021, in the PubMed/MEDLINE database.ResultsWe identified 93 new-onset movement disorders cases (44 articles) from 200 papers screened in the database or reference lists. Myoclonus was present in 63.4% (n = 59), ataxia in 38.7% (n = 36), action/postural tremor in 10.8% (n = 10), rigid-akinetic syndrome in 5.38% (n = 5), oculomotor abnormalities in 20.4% (n = 19), catatonia in 2.1% (n = 2), dystonia in 1.1% (n = 1), chorea in 1.1% (n = 1), functional (psychogenic) movement disorders in 3.2% (n = 3) of the reported COVID-19 cases with any movement disorder. Encephalopathy was a common association (n = 37, 39.78%).DiscussionComprehensive neurophysiological, clinical, and neuroimaging descriptions of movement disorders in the setting of SARS-CoV-2 infection are still lacking, and their pathophysiology may be related to inflammatory, postinfectious, or even indirect mechanisms not specific to SARS-CoV-2, such as ischemic-hypoxic brain insults, drug effects, sepsis, kidney failure. Cortical/subcortical myoclonus, which the cited secondary mechanisms can largely cause, seems to be the most common hyperkinetic abnormal movement, and it might occur in association with encephalopathy and ataxia.ConclusionThis brief review contributes to the clinical description of SARS-CoV-2 potential neurological manifestations, assisting clinical neurologists in identifying features of these uncommon syndromes as a part of COVID-19 symptomatology.Highlights- Movement disorders are probably uncommon neurological manifestations in SARS-CoV-2 infection;- Myoclonus is the most reported movement disorder associated with COVID-19, its clinical complications or pharmacological management;- The pathophysiology is yet not well-understood but can include systemic inflammation, autoimmune mechanisms, or hypoxia.

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Non-Parkinson movement disorders: Five new things.

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Non-Parkinson movement disorders: Five new things.

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