To assess neurological manifestations and health-related quality of life (QoL) 3 months after COVID-19.In this prospective, multicenter, observational cohort study we systematically evaluated neurological signs and diseases by detailed neurological examination and a predefined test battery assessing smelling disorders (16-item Sniffin Sticks test), cognitive deficits (Montreal Cognitive Assessment), QoL (36-item Short Form), and mental health (Hospital Anxiety and Depression Scale, Posttraumatic Stress Disorder Checklist-5) 3 months after disease onset.Of 135 consecutive COVID-19 patients, 31 (23%) required intensive care unit (ICU) care (severe), 72 (53%) were admitted to the regular ward (moderate), and 32 (24%) underwent outpatient care (mild) during acute disease. At the 3-month follow-up, 20 patients (15%) presented with one or more neurological syndromes that were not evident before COVID-19. These included polyneuro/myopathy (n = 17, 13%) with one patient presenting with Guillain-Barré syndrome, mild encephalopathy (n = 2, 2%), parkinsonism (n = 1, 1%), orthostatic hypotension (n = 1, 1%), and ischemic stroke (n = 1, 1%). Objective testing revealed hyposmia/anosmia in 57/127 (45%) patients at the 3-month follow-up. Self-reported hyposmia/anosmia was lower (17%) at 3 months, however, improved when compared to the acute disease phase (44%; p < 0.001). At follow-up, cognitive deficits were apparent in 23%, and QoL was impaired in 31%. Assessment of mental health revealed symptoms of depression, anxiety, and posttraumatic stress disorders in 11%, 25%, and 11%, respectively.Despite recovery from the acute infection, neurological symptoms were prevalent at the 3-month follow-up. Above all, smelling disorders were persistent in a large proportion of patients.
Abstract Study Objectives To evaluate macro sleep architecture and characterize rapid eye movement (REM) sleep without atonia (RWA) by using the SINBAR excessive electromyographic (EMG) montage including mentalis and upper extremity muscles in early and advanced Parkinson’s disease (PD). Methods We recruited 30 patients with early- and advanced-stage of PD according to Movement Disorder Society (MDS) Clinical Diagnostic Criteria. Participants were classified as early-stage PD if they were treatment-naïve or had no motor complications and had been diagnosed with PD within the previous 6 years. Advanced PD was defined as a disease duration equal to or >6 years with or without motor complications. Results There was significantly shorter REM sleep latency in early as compared to the advanced stage of PD. We found that the sleep Innsbruck Barcelona (SINBAR) EMG index and tonic EMG activity of the mentalis muscle in advanced-stage PD were significantly higher than in early-stage PD with a trend in phasic EMG activity of the flexor digitorum superficialis muscles. The SINBAR EMG index, tonic and any EMG activity of the mentalis muscle, and phasic EMG activity of flexor digitorum superficialis muscles significantly correlated with disease duration. Conclusions This study analyzed RWA using the SINBAR EMG montage in early- and advanced-stage of PD and showed higher RWA in mentalis and flexor digitorum superficialis muscles and SINBAR EMG index in advanced-PD patients compared to patients in the early stage. Also, polysomnography-confirmed REM sleep behavior disorder was more common in advanced versus early-stage patients. Our findings suggest that RWA worsens or is more intense or more frequent with disease progression.
Dorsal column spinal stimulation in dopamine-depleted rodents was recently reported to disrupt pathologic corticostriatal synchronization, alleviate akinesia, and restore locomotion.1 This claim has prompted consideration that spinal stimulation “might become an efficient and less invasive alternative for treatment of Parkinson disease (PD) in the future.”
In this study, we investigated whether dorsal column stimulation was of therapeutic benefit in 2 patients with PD.
### Level of evidence.
This study provides Class II evidence that for patients with moderate to severe motor impairment from PD, high-frequency epidural cervical spinal cord stimulation does not significantly improve motor function as measured by the motor subsection of the Unified Parkinson's Disease Rating Scale (UPDRS).
### Methods.
Two patients with PD had spinal stimulators (Medtronic models 3487a or 3898) implanted surgically into the high cervical epidural space without complication, as described previously.2 Patient 1, 75 years old, had moderate motor impairment (off/on medication motor UPDRS = 30/18). Patient 2, 77 years old, had more severe motor impairment (off/on medication UPDRS = 51/38) and was unable to walk without dopaminergic medication. Both patients met UK Brain Bank criteria for PD.3
Ten days postoperatively, both patients participated in a double-blind crossover study of the motor effects of spinal stimulation. In an initial exploratory phase, an antiparkinsonian effect of spinal stimulation was sought over a range of frequencies (30–300 Hz) and intensities (up to 4.0 V and 240 μs). Having failed to establish a clear benefit for any particular set of parameters, for the purposes of the study, patient 1 was …
Abstract Mutations in the valosin‐containing protein ( VCP ) are known to cause autosomal‐dominant inclusion‐body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD). We report a novel missense mutation (G157R) in the N‐terminal region of the VCP gene in a German family. Family members presented with mild to moderate proximal muscle weakness, Paget disease of bone, and signs of early cognitive decline, with onset in the fourth decade. Two family members also showed signs of early hearing impairment, which was confirmed to be sensorineural in one person, a symptom not yet described in the context of IBMPFD. Muscle Nerve 39: 389–391, 2009
Satisfactory management of Parkinson's disease is a challenge that requires a tailored approach for each individual. In the advanced phase of the disease, patients may experience motor complications despite optimized pharmacological therapy. Apomorphine, a short-acting D1- and D2-like receptor agonist, is the only drug proven to have an efficacy equal to that of levodopa, albeit with a shorter time to onset and effect duration. Clinical trials have shown that intermittent apomorphine injections provide rapid and effective relief from unpredictable "off" periods. Continuous apomorphine infusion reduced around 50% of the daily "off" time in several studies. Dopaminergic side effects such as nausea, somnolence and hypotonia, as well as administration site reactions, are often mild or treatable, but somnolence and skin reactions in particular can sometimes be reasons for premature discontinuation. We provide an overview of the pharmacological mechanism of action of the drug in light of its effects on Parkinson's disease symptoms. We then summarize the evidence regarding the efficacy and tolerability of apomorphine, both in its established formulations (subcutaneous intermittent injection and continuous infusion) and in the new preparations currently under investigation.
In this study we describe an autosomal dominant distal muscular dystrophy in a small Austrian family. The myopathy started in early adulthood with a slowly progressive weakness of the muscles of the anterior tibial compartment, followed by the long finger extensors and sternocleidomastoids in some family members. Other muscles were spared. Histopathology showed fiber size variation and autophagic vacuoles. This disease pattern is similar to Laing distal myopathy, which has been described previously in only one other family.
Abstract Wilson disease (WD) is caused by biallelic pathogenic variants in adenosine triphosphatase copper‐transporting beta (ATP7B); however, genetic testing identifies only one or no pathogenic ATP7B variant in a number of patients with WD. Synonymous single‐nucleotide sequence variants have been recognized as pathogenic in individual families. The aim of the present study was to evaluate the prevalence and disease mechanism of the synonymous variant c.2292C>T (p.Phe764=) in WD. A cohort of 280 patients with WD heterozygous for a single ATP7B variant was investigated for the presence of c.2292C>T (p.Phe764=). In this cohort of otherwise genetically unexplained WD, the allele frequency of c.2292C>T (p.Phe764=) was 2.5% (14 of 560) compared to 7.1 × 10 −6 in the general population (2 of 280,964 in the Genome Aggregation Database; p < 10 −5 ; Fisher exact test). In an independent United Kingdom (UK) cohort, 2 patients with WD homozygous for p.Phe764= were identified. RNA analysis of ATP7B transcripts from patients homozygous or heterozygous for c.2292C>T and control fibroblasts showed that this variant caused high expression of an ATP7B transcript variant lacking exon 8. Conclusion: The synonymous ATP7B variant c.2292C>T (p.Phe764=) causes abnormal messenger RNA processing of ATP7B transcripts and is associated with WD in compound heterozygotes and homozygotes.
DiGeorge syndrome, also referred as 22q11.2 deletion syndrome is a multisystem disorder associated with an increased risk of early-onset parkinsonism. In this case report, we present a case of a 47-year-old male patient with complex comorbidities and seizures. This patient presented with increased seizure frequency and on examination was found to have parkinsonism. Due to the symptoms constellation, a genetic analysis was done which revealed presence of DiGeorge syndrome. However, his DaTscan was normal and hence a possibility of medication induced parkinsonism was considered. Through this case report, we want to emphasize the fact that while it is important to consider genetic testing for young patients with parkinsonism especially in those with complex comorbidities, other possible causes of parkinsonism should not be ignored.
Movement Disorders Clinical Practice-is an online-only journal committed to publishing high quality peer reviewed articles related to clinical aspects of movement disorders which broadly include phenomenology (interesting case/case series/rarities), investigative (for e.g.genetics, imaging), translational (phenotype-genotype or other) and treatment aspects (clinical guidelines, diagnostic and treatment algorithms).In addition the journal will encourage the publication of educative material (solicited and unsolicited reviews), clinical-pathological cases, drug trials results and task force reports related to the field of movement disorders.MDCP encourages the submission of multimedia material accompanying all types of articles.
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