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Lung Dec 2023Chronic cough is common, and in many cases unexplained or refractory to otherwise effective treatment of associated medical conditions. Cough hypersensitivity has... (Review)
Review
Chronic cough is common, and in many cases unexplained or refractory to otherwise effective treatment of associated medical conditions. Cough hypersensitivity has developed as a paradigm that helps to explain clinical and research observations that frequently point towards chronic cough as a neuropathic disorder. Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recently described neurological condition whose clinical features include gait ataxia, unsteadiness, peripheral neuropathy, and autonomic dysfunction. Chronic cough is also a common feature of the syndrome, with features of hypersensitivity, often preceding core neurological symptoms by up to 30 years or more. The genetic basis in a majority of cases of CANVAS appears to be biallelic variable repeat intron expansion sequences within RFC1, a gene normally involved in the regulation of DNA replication and repair. The same polymorphism has now been identified at an increased frequency in patients with unexplained or refractory chronic cough in the absence of defining clinical features of CANVAS. This review expands on these points, aiming to increase the awareness of CANVAS amongst clinicians and researchers working with chronic cough. We discuss the implications of a link between RFC1 disease and cough. Improved understanding of CANVAS may lead to an enhanced grasp of the pathophysiology of chronic cough, and new approaches to antitussive treatments.
Topics: Humans; Cerebellar Ataxia; Bilateral Vestibulopathy; Cough; Peripheral Nervous System Diseases; Syndrome
PubMed: 37979058
DOI: 10.1007/s00408-023-00660-4 -
Pediatric Neurology Apr 2024Cerebral palsy (CP) is a clinical diagnosis and was long categorized as an acquired disorder, but more and more genetic etiologies are being identified. This review aims... (Review)
Review
BACKGROUND
Cerebral palsy (CP) is a clinical diagnosis and was long categorized as an acquired disorder, but more and more genetic etiologies are being identified. This review aims to identify the clinical characteristics that are associated with genetic CP to aid clinicians in selecting candidates for genetic testing.
METHODS
The PubMed database was systematically searched to identify genes associated with CP. The clinical characteristics accompanying these genetic forms of CP were compared with published data of large CP populations resulting in the identification of potential indicators of genetic CP.
RESULLTS
Of 1930 articles retrieved, 134 were included. In these, 55 CP genes (described in two or more cases, n = 272) and 79 candidate genes (described in only one case) were reported. The most frequently CP-associated genes were PLP1 (21 cases), ARG1 (17 cases), and CTNNB1 (13 cases). Dyskinesia and the absence of spasticity were identified as strong potential indicators of genetic CP. Presence of intellectual disability, no preterm birth, and no unilateral distribution of symptoms were classified as moderate genetic indicators.
CONCLUSIONS
Genetic causes of CP are increasingly identified. The clinical characteristics associated with genetic CP can aid clinicians regarding to which individual with CP to offer genetic testing. The identified potential genetic indicators need to be validated in large CP cohorts but can provide the first step toward a diagnostic algorithm for genetic CP.
Topics: Female; Humans; Cerebral Palsy; Premature Birth; Dyskinesias; Muscle Spasticity; Intellectual Disability
PubMed: 38382247
DOI: 10.1016/j.pediatrneurol.2024.01.025 -
The American Journal of Managed Care Aug 2023This study examined the relationship between claims-based and patient-reported continuity of care (COC) measures and investigated the effects of the 2 types of COC...
OBJECTIVES
This study examined the relationship between claims-based and patient-reported continuity of care (COC) measures and investigated the effects of the 2 types of COC measures on subjective and objective health care outcomes.
STUDY DESIGN
A prospective, cross-sectional, correlational survey design was used. A nationwide face-to-face interview survey of community-dwelling older adults was conducted, and the survey participants' health claims records were retrieved and linked under the universal health insurance system of Taiwan in 2018.
METHODS
Health care outcomes were measured subjectively (patient satisfaction and perceived lack of coordination) and objectively (likelihood of hospital admissions and emergency department [ED] visits). COC was measured using claims-based and multidimensional patient-reported COC. Ordered logit and logit models were used to examine the relationship between the 2 types of COC measures, and health care outcomes were measured subjectively and objectively. Average marginal effects with bootstrapped SEs were computed for health care outcomes.
RESULTS
This study demonstrated that the correlations of claims-based and patient-reported COC measures were quite low and mainly insignificant. A higher claims-based COC was significantly associated with a lower likelihood of hospital admissions, ED visits, and perceived lack of coordination. No significant relationship was identified between claims-based COC and patient satisfaction. Participants reporting higher COC had better patient satisfaction and less perceived lack of coordination. However, no relationship was identified between patient-reported COC and the likelihood of hospital admissions and ED visits.
CONCLUSIONS
The correlation between claims-based and patient-reported COC measures is low, and claims-based and patient-reported COC measures are associated with different subjective and objective health care outcomes. We suggest that claims-based COC indicators representing the pattern of physician visits might be considered a unique dimension of COC.
Topics: Humans; Aged; Cross-Sectional Studies; Prospective Studies; Continuity of Patient Care; Patient Satisfaction; Ataxia
PubMed: 37616152
DOI: 10.37765/ajmc.2023.89411 -
Effect of acupuncture treatment on nonketotic hyperglycemic hemichorea-hemiballismus: a case report.Journal of Traditional Chinese Medicine... Aug 2023Nonketotic hyperglycemic hemichorea-hemiballismus is a rare syndrome in the clinic, and treatment is often delayed. Hypoglycemic therapy is the most widely used and...
Nonketotic hyperglycemic hemichorea-hemiballismus is a rare syndrome in the clinic, and treatment is often delayed. Hypoglycemic therapy is the most widely used and effective treatment, but some patients experience a slower improvement. Other symptomatic treatment medicines have some degree of side effects. Acupuncture treatment is beneficial for hemichorea-hemiballismus. A male patient, aged 59 years, first visited our hospital outpatient department due to motor agitation with involuntary movements of the right limb. He had a history of type 2 diabetes mellitus and poor blood glucose control. His serum glucose was 26.5 mmol/L (normal: 4.4-6.1 mmol/L), and magnetic resonance imaging demonstrated an irregular area of high signal intensity in T1-weighted imaging, low signal intensity on T2-weighted imaging, and high signal intensity in the left corpus striatum in T2-FLAIR imaging. Hospitalization was recommended for the patient. After ruling out other possibilities, he was eventually diagnosed with nonketotic hyperglycemic hemichorea-hemiballismus. Intensive glycemic control was immediately started with subcutaneous injection and acupuncture treatment at "governor vessel 13 acupoints", and the involuntary movements completely disappeared on the ninth day of hospitalization. The pathophysiology of nonketotic hyperglycemic hemichorea-hemiballismus is unclear. Different patient histories lead to different brain tissue conditions, and relapses and uncontrolled blood glucose add difficulties to treatment. According to Traditional Chinese Medicine theory, insufficient kidney essence leads to brain dystrophy and causes the symptoms of hemichorea-hemiballismus. Research evidence has shown that acupuncture at "governor vessel 13 acupoints" has a beneficial treatment effect on nonketotic hyperglycemic hemichorea-hemiballismus.
Topics: Humans; Male; Diabetes Mellitus, Type 2; Dyskinesias; Chorea; Brain; Acupuncture Therapy
PubMed: 37454270
DOI: 10.19852/j.cnki.jtcm.20230308.004 -
Ear, Nose, & Throat Journal Jun 2024Synkinesis refers to abnormal involuntary facial movements that accompany volitional facial movements. Despite a 55% incidence of synkinesis reported in patients with... (Review)
Review
INTRODUCTION
Synkinesis refers to abnormal involuntary facial movements that accompany volitional facial movements. Despite a 55% incidence of synkinesis reported in patients with enduring facial paralysis, there is still a lack of complete understanding of this debilitating condition, leading to functional limitations and decreased quality of life. This article reviews the diagnostic assessment, etiology, pathophysiology, rehabilitation, and nonsurgical and surgical treatments for facial synkinesis.
METHODS
A PubMed and Cochrane search was done with no date restrictions for English-language literature on facial synkinesis. The search terms used were "facial," "synkinesis," "palsy," and various combinations of the terms.
RESULTS
The resultant inability to control the full extent of one's facial movements has functional and psychosocial consequences and may result in social withdrawal with a significant decrease in quality of life. An understanding of facial mimetic musculature is imperative in guiding appropriate intervention. While chemodenervation with botulinum toxin and neurorehabilitation have continued to be the primary treatment strategy for facial synkinesis, novel techniques such as selective myectomy, selective neurolysis, free-functioning muscle transfer, and nerve grafting techniques are becoming increasingly utilized in treatment regimens. Facial rehabilitation, including neuromuscular retraining, soft tissue massage, and relaxation therapy in addition to chemodenervation with botulinum toxin, remains the cornerstone of treatment. In cases of severe, intractable synkinesis and non-flaccid facial paralysis, surgical interventions, including selective neurectomy, selective myectomy, nerve grafting, or free muscle transfer, may play a more significant role in alleviating symptoms.
DISCUSSION
A multidisciplinary approach involving therapists, clinicians, and surgeons is necessary to develop a comprehensive treatment regimen that will result in optimal outcomes. Ultimately, therapy should be tailored to the severity and pattern of synkinesis, and each patient approached on a case-by-case basis. A multidisciplinary approach involving therapists, clinicians, and surgeons is necessary to develop a comprehensive treatment regimen that will result in optimal outcomes.
Topics: Humans; Synkinesis; Facial Paralysis; Facial Muscles; Quality of Life; Botulinum Toxins; Neuromuscular Agents; Denervation
PubMed: 34836457
DOI: 10.1177/01455613211054627 -
Medicine Jun 2024Dyskinesia is one of the most common complications of stroke. Acupuncture therapy (AT) and mirror therapy (MT) are promising rehabilitation measures for the treatment of... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Dyskinesia is one of the most common complications of stroke. Acupuncture therapy (AT) and mirror therapy (MT) are promising rehabilitation measures for the treatment of post-stroke dyskinesia. Although some studies suggested that AT and MT are effective and safe for dyskinesia, the effects, and safety remain uncertain due to lacking strong evidence. The purpose of this study is to investigate the efficacy and safety of AT combined with MT in the treatment of post-stroke dyskinesia.
METHODS
We searched the following databases: PubMed, Web of Science, Cochrane Library, EMBASE, Medline, China Knowledge Network, WANFANG, and China Biomedical Literature Database, from inception to 1 January 2023 to identify eligible studies. Total effective rate, the Fugl-Meyer assessment scale (FMA) upper and lower limb scores, modified Barthel index scores, Berg balance scale, modified Ashworth scale, and adverse reactions were adopted as outcome indicators. The Grading of Recommendations Assessment Development and Evaluation system was used by 2 independent reviewers to assess the quality of evidence for the outcome indicators included in the study. The statistical analysis was conducted by RevMan V.5.4 software.
RESULTS
A total of 24 randomized controlled studies included 2133 patients with post-stroke dyskinesia were included. The total effective rate of AT combined with MT was more advantageous in the treatment of post-stroke dyskinesia (relative risk = 1.31, 95% confidence interval [CI] [1.22-1.42], Z = 6.96, P < .0001). AT combined with MT was more advantageous for FMA upper limb score (mean difference [MD] = 6.67, 95% CI [5.21-8.13], Z = 8.97, P < .00001) and FMA lower limb score (MD = 3.72, 95% CI [2.81-4.63], Z = 7.98, P < .00001). Meta-analysis showed that AT combined with MT for post-stroke dyskinesia had a more advantageous modified Barthel index score (MD = 9.51, 95% CI [7.44-11.58], Z = 9.01, P < .00001).
CONCLUSION
AT combined with MT is effective in improving motor function and daily living ability of patients, especially in improving muscle spasms. However, these results should be regarded with caution given the low quality of evidence for the evaluation results.
Topics: Humans; Acupuncture Therapy; Stroke; Dyskinesias; Stroke Rehabilitation; Randomized Controlled Trials as Topic; Combined Modality Therapy; Treatment Outcome
PubMed: 38941386
DOI: 10.1097/MD.0000000000038733 -
Physiological Research Apr 2024This comprehensive review explores the physiological and pathophysiological significance of VPS13A, a protein encoded by the VPS13A gene. The VPS13A gene is associated... (Review)
Review
This comprehensive review explores the physiological and pathophysiological significance of VPS13A, a protein encoded by the VPS13A gene. The VPS13A gene is associated with Chorea-acanthocytosis (ChAc), a rare hereditary neurodegenerative disorder. The review covers essential aspects, beginning with the genetics of VPS13A, highlighting its role in the pathogenesis of ChAc, and addressing the spectrum of genetic variants involved. It delves into the structure and function of the VPS13A protein, emphasizing its presence in various tissues and its potential involvement in protein trafficking and lipid homeostasis. Molecular functions of VPS13A in the brain tissue and other cell types or tissues with respect to their role in cytoskeletal regulation and autophagy are explored. Finally, it explores the intriguing link between VPS13A mutations, lipid imbalances, and neurodegeneration, shedding light on future research directions. Overall, this review serves as a comprehensive resource for understanding the pivotal role of VPS13A in health and disease, particularly in the context of ChAc. Key words: Chorein , Tumor, Actin, Microfilament, Gene expression, Chorea-acanthocytosis.
Topics: Humans; Animals; Vesicular Transport Proteins; Neuroacanthocytosis; Mutation; Lipid Metabolism
PubMed: 38710051
DOI: 10.33549/physiolres.935268 -
Journal of Neurology Apr 2024To describe the clinical features of a cohort of individuals with stiff person syndrome spectrum disorders (SPSD) and identify potential early predictors of future... (Observational Study)
Observational Study
OBJECTIVE
To describe the clinical features of a cohort of individuals with stiff person syndrome spectrum disorders (SPSD) and identify potential early predictors of future disability.
BACKGROUND
There is a need to better understand the full spectrum of clinical and paraclinical features and long-term impact of SPSD.
DESIGN/METHODS
Observational study from 1997 to 2022 at Johns Hopkins. Clinical phenotypes included classic SPS, partial SPS (limb or trunk limited), SPS-plus (classic features plus cerebellar/brainstem involvement), and progressive encephalomyelitis with rigidity and myoclonus (PERM). Outcome measures were modified Rankin scale (mRS) and use of assistive device for ambulation. Multivariate logistic regression was used to assess significant predictors of outcomes.
RESULTS
Cohort included 227 individuals with SPSD with mean follow-up of 10 years; 154 classic, 48 SPS-plus, 16 PERM, and 9 partial. Mean age at symptom onset was 42.9 ± 14.1 years, majority were white (69.2%) and female (75.8%). Median time to diagnosis was 36.2 months (longest for SPS-plus and PERM) and 61.2% were initially misdiagnosed. Most had systemic co-morbidities and required assistive devices for ambulation. Female sex (OR 2.08; CI 1.06-4.11) and initial brainstem/cerebellar involvement (OR 4.41; CI 1.63-14.33) predicted worse outcome by mRS. Older age at symptom onset (OR 1.04; CI 1.01-1.06), female sex (OR 1.99; CI 1.01-4.01), Black race (OR 4.14; CI 1.79-10.63), and initial brainstem/cerebellar involvement (OR 2.44; CI 1.04-7.19) predicted worse outcome by use of assistive device. Early implementation of immunotherapy was associated with better outcomes by either mRS (OR 0.45; CI 0.22-0.92) or use of assistive device (OR 0.79; CI 0.66-0.94).
CONCLUSIONS
We present the expanding phenotypic variability of this rare spectrum of disorders and highlight potential predictors of future disability.
Topics: Humans; Female; Stiff-Person Syndrome; Prognosis; Myoclonus; Comorbidity; Outcome Assessment, Health Care
PubMed: 38078976
DOI: 10.1007/s00415-023-12123-0 -
Arquivos de Neuro-psiquiatria Oct 2023Frontal ataxia, originally described by Bruns, is characterized by the presence of signs of frontal lobe dysfunction, such as perseveration, paratonia, frontal release...
Frontal ataxia, originally described by Bruns, is characterized by the presence of signs of frontal lobe dysfunction, such as perseveration, paratonia, frontal release signs, cognitive changes, and urinary difficulty, associated with imbalance, slow gait, broad-based, the presence of postural instability and falls, retropulsion, and bradykinesia in the lower limbs. The goal of the present study is to recall the historical aspects of this condition, to draw attention to the importance of this clinical finding for the differential diagnosis of ataxias and to review the main semiological differences between primary ataxias (frontal, cerebellar, and sensory ataxia).
Topics: Humans; Ataxia; Cerebellum; Diagnosis, Differential; Frontal Lobe; Gait
PubMed: 37899045
DOI: 10.1055/s-0043-1775886 -
Journal of Neurology, Neurosurgery, and... Mar 2024variants increase the risk of developing Parkinson disease (PD) and influence its outcome. Deep brain stimulation (DBS) is a recognised therapeutic option for advanced...
BACKGROUND
variants increase the risk of developing Parkinson disease (PD) and influence its outcome. Deep brain stimulation (DBS) is a recognised therapeutic option for advanced PD. Data on DBS long-term outcome in carriers are scarce.
OBJECTIVE
To elucidate the impact of variants on long-term DBS outcome in a large Italian cohort.
METHODS
We retrospectively recruited a multicentric Italian DBS-PD cohort and assessed: (1) prevalence; (2) pre-DBS clinical features; and (3) outcomes of motor, cognitive and other non-motor features up to 5 years post-DBS.
RESULTS
We included 365 patients with PD, of whom 73 (20%) carried variants. 5-year follow-up data were available for 173 PD, including 32 mutated subjects. GBA-PD had an earlier onset and were younger at DBS than non-GBA-PD. They also had shorter disease duration, higher occurrence of dyskinesias and orthostatic hypotension symptoms.At post-DBS, both groups showed marked motor improvement, a significant reduction of fluctuations, dyskinesias and impulsive-compulsive disorders (ICD) and low occurrence of most complications. Only cognitive scores worsened significantly faster in GBA-PD after 3 years. Overt dementia was diagnosed in 11% non-GBA-PD and 25% GBA-PD at 5-year follow-up.
CONCLUSIONS
Evaluation of long-term impact of variants in a large Italian DBS-PD cohort supported the role of DBS surgery as a valid therapeutic strategy in GBA-PD, with long-term benefit on motor performance and ICD. Despite the selective worsening of cognitive scores since 3 years post-DBS, the majority of GBA-PD had not developed dementia at 5-year follow-up.
Topics: Humans; Parkinson Disease; Retrospective Studies; Deep Brain Stimulation; Dyskinesias; Dementia; Italy
PubMed: 37879897
DOI: 10.1136/jnnp-2023-332387