Tremor and Other Hyperkinetic Movements最新文献

Background: Adult-onset dystonia can also spread to other parts of the body, although it is not as common as childhood-onset dystonia.

Objective: Our study aimed to examine the clinical factors determining spreading patterns in all adult-onset dystonia types.

Methods: We retrospectively analyzed the medical records of patients with a diagnosis of isolated dystonia followed longitudinally at our center. We included patients reporting symptom onset after 18 years. We then compared the clinical factors between groups with and without spreading.

Results: Among 434 patients (396 focal, 29 segmental, and nine generalized onset dystonia. mean follow-up of 8.6 ± 7.8 years), 48 (11.1%) experienced spread of dystonia, with 37 progressing from focal to segmental, two from focal to generalized, two from segmental to generalized, and seven from focal to segmental to generalized dystonia. Blepharospasm was the most common focal dystonia noted to spread, followed by oromandibular dystonia, cervical dystonia, laryngeal dystonia, and upper extremity dystonia, in decreasing order. A spreading pattern was observed in approximately one in 10 dystonia patients, and the spreading was more frequent in the segmental dystonia group. While there was no difference between the spreading groups regarding sensory tricks, tremor, and gender, family history was more common in the non-spreading group (p = 0.023). Older age at onset was independently associated with increased odds of spreading (hazards ratio: 1.054, p < 0.001, B = 0.053).

Conclusion: Although risk factors for spread are variable, the underlying mechanisms are not fully known. Genetic factors may be possibly related to the spread, and future studies are needed on this subject.

Background: While levodopa may benefit some patients with monogenic Parkinson's Disease and parkinsonism, others may exhibit aberrant responses earlier after exposure. Reporting treatment responses in rare genetic parkinsonism will help tailor therapeutic approaches to specific patients subpopulations.

Case report: We report the therapeutic response in a patient with RAB39B X-linked parkinsonism, who exhibited motor and non-motor complications within a few months of Levodopa.

Discussion: Severe and debilitating Levodopa-induced complications can occur very early in the treatment course of X-linked parkinsonism, highlighting the need for an individualized therapeutic approach and follow-up in rare parkinsonian syndromes.

Background: Subacute Sclerosing Panencephalitis (SSPE) is a fatal disorder marked by gradual cognitive and motor deterioration, leading to death typically within 1-3 years.

Case report: A 20-year-old woman with progressive abnormal behaviour, forgetfulness, and involuntary movements showed significant improvement after treatment with interferon and isoprinosine. Initially severely cognitively impaired and dependent, she regained independence and demonstrated marked cognitive enhancement, her MMSE improved from 15 to 28 and reduced myoclonus. Her progress was sustained over three years, substantially enhancing her quality of life.

Discussion: This SSPE case shows significant improvement in disability. Early identification of such cases is crucial for improved prognostic counselling for families.

This review discusses non-pharmacological, non-surgical interventions for action tremor, including essential tremor (ET). We review transcutaneous peripheral nerve stimulation (PNS), a variety of orthotic/mechanical devices, cooling and vibration strategies, and adaptive utensils, most of which are currently available. The PNS section discusses open loop (CALA-Trio) and closed loop systems (Felix™, NeuroAI™ and Motimove® systems). Orthotic devices which physically dampen tremor include Tremulo™, GyroGlove™, WOTAS exoskeleton, Magnetorheological Fluid-Based Exoskeleton System, Steadi-One® and Steadi-Two®, and Readi-Steady®. Adaptive devices include weighted spoons, deep cavity spoons, counter-balance utensils, and electrical actuator devices. Despite availability, most of these devices have limited to no published clinical trial data.

Background: Moving Ear Syndrome is a rare hyperkinetic disorder.

Phenomenology shown: This Video Abstract illustrates typical backward movements of the right ear associated with pain and discomfort in a man with Moving Ear Syndrome.

Educational value: Moving Ear Syndrome is effectively and safely treatable with EMG-US-guided botulinum toxin injections.

Background: Neuronal ceroid lipofuscinosis (NCL) is a rare hereditary lysosomal storage disorder causing neuronal loss and progressive neurodegeneration. CLN variants cause varied phenotypic presentations.

Case report: A 49-year-old male presented with late adult-onset progressive focal right lower limb dystonia. Imaging showed cerebellar atrophy, and genetic testing was positive for the CLN5 variant (c.826T > C; p.Phe276 Leu) with uncertain significance. Skin biopsy suggested NCL, which made us consider the variant pathogenic, leading to novel phenotypic presentation.

Conclusion: Isolated focal dystonia has not been reported as an initial presentation in ANCL. Early genetic testing and periodic clinical assessments are advisable for better management and prognostication.

Background: Neuropathic tremor occurs with damage to the peripheral nervous system. Guillain-Barré syndrome (GBS) causes acute paralysis following nerve inflammation sometimes resulting in long-term disability. It is unclear how frequent and severe tremor is following GBS.

Objectives: We aimed to assess the frequency and features of tremor following GBS.

Methods: We enrolled 18 patients with GBS treated in a secondary care center within a 4-year period. Evaluations were done with the Fahn-Tolosa-Marin tremor rating scale (FTM-TRS). We compared these features with a cohort of consecutive patients with untreated essential tremor (ET).

Results: There were 13 males and 5 females with a mean age at evaluation (S.D.) of 41.5 ± 14.0 years and at GBS onset of 40.2 ± 13.7. No patient had history of tremor before GBS. Upper limb tremor was identified in 16 (89%) cases, 35.5% of patients had FTM-TRS score ≥10 points. Tremor was mostly kinetic, jerky with low amplitude with a total score of 10.94 ± 11.84 in the FTM-TRS. Compared with patients with ET, those with GBS-tremor were younger and had lower scores in all subscales of the FTM-TRS (P value < 0.05 for all comparisons). In a multivariate linear regression analysis "days of hospitalization" had a positive association with the total FTM-TRS score (P = 0.001).

Conclusions: Tremor was common following GBS. This tremor is mild compared with patients with ET, but adds functional impact.

Background: Anecdotal evidence suggests paradoxical caffeine overuse in individuals with Huntington's disease (HD). A small retrospective study associated caffeine intake over 190 grams daily to earlier onset of HD symptoms. However, specific data on consumption habits is limited. This study aims to gather pilot data on caffeine use in people with HD, exploring motivations and consequences.

Methods: Thirty adults with HD completed a survey on daily caffeine intake, its impact on symptoms, and consumption motivations through multiple-choice and open-ended questions. Descriptive statistics were used to analyze findings and compare them to general population data.

Results: Caffeine intake ranged from 0 to 1400.4 mg/day, with a median of 273.2 mg/day and a mean of 382.5 mg/day. Seventy percent of participants with HD consumed more caffeine than the average for their age group in the general population. Additionally, 20% of participants and 38% of family members believed caffeine influenced HD symptoms, primarily anxiety.

Discussion: People with HD typically consume more caffeine than the general U.S. population. Contrary to the hypothesis, higher caffeine intake was not associated with significant subjective worsening of HD symptoms. Further research with objective measures and multiple HD centers is necessary to guide screening and counseling on caffeine use in this population.

Highlights: Participants with Huntington's disease (HD) had increased caffeine intake compared to the general population, supporting previous anecdotal observations. Anxiety was the most affected HD symptom. Further research using objective measures of symptom burden and including multiple HD centers can help inform screening and counseling regarding caffeine use in this population.

Clinical vignette: A 23-year-old woman with pantothenate kinase-associated neurodegeneration (PKAN) presented with medication-refractory generalized dystonia and an associated gait impairment.

Clinical dilemma: Bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) can be an effective treatment for dystonia. However, outcomes for PKAN DBS have been variable and there are no standardized criteria for patient selection.

Clinical solution: Bilateral GPi DBS implantation resulted in improvement in dystonia and gait. The benefit has persisted over one year after implantation.

Gap in knowledge: PKAN is a rare neurodegenerative disorder and evidence supporting the use of PKAN DBS has been largely limited to case reports and case series. Consequently, there is a paucity of long-term data, especially on gait-related outcomes.

Expert commentary: The clinical characteristics of dystonia that respond to DBS tend to respond in PKAN. Clinicians counselling patients about the effects of DBS for PKAN should thoughtfully discuss gait and postural instability as important aspects to consider, especially as the disease will progress post-DBS.

Background: Postural tremor is an uncommon and often overlooked phenotype in skeletal myopathy, which may lead to diagnostic delays.

Case report: A 21-year-old man presented with adolescent onset postural hand tremor as the initial symptom, followed by mild limb muscle weakness. Neurological examination showed restricted ocular motility without diplopia and myopathic facial appearance. A muscle biopsy showed a decrease in type 2A fibers. Whole-exome sequencing identified two novel compound heterozygous variants in MYH2 gene (NM_017534.6): c.505+2T>C and c.3565 del C. The diagnosis was further validated via bioinformatics analysis and confirmed through familial co-segregation by Sanger sequencing.

Discussion: This report expands the mutational and phenotypic spectrum of MYH2-associated myopathy. We suggest that in the differential diagnosis of tremor, besides common neurogenic causes, myogenic etiology should also be considered.

Highlights: Hand tremor in this case expands the phenotype of MYH2-associated myopathy, enhancing our understanding of tremor origins. It underscores the importance of nuanced clinical assessment and genetic screening in complex tremor disorders.