Neurodegenerative disease management最新文献

Aim: To determine whether clinicians evaluate American Academy of Neurology (AAN) quality metrics for patients with multiple sclerosis (MS) relapse and whether repository corticotropin injection (RCI) improves clinical and patient-reported outcomes associated with these metrics at 2 and 6 months after treatment. Methods: A multicenter, prospective, observational registry evaluating patients receiving RCI for MS relapse (N = 125) categorized data according to AAN quality metrics involving diagnosis, disability, fatigue, cognitive impairment, depression, and quality of life. Results: Clinicians assessed all 11 AAN quality metrics in patients with MS relapse. Disability, fatigue, cognitive impairment, depression, and quality of life outcomes improved with RCI therapy. Conclusion: RCI was associated with improved quality metrics, and AAN guidelines were followed during routine RCI treatment for MS relapse.

Aim: We aimed to analyze the relationship between tongue measurements and vallecular residue in patients with amyotrophic lateral sclerosis (ALS). Materials & methods: Twenty-one patients with ALS were assessed for posterior maximum tongue isometric pressure (PMTIP) and posterior tongue isometric endurance (PTIE) by the Iowa Oral Performance Instrument; vallecular residue after 10 ml of moderately thickened consistency by Fiberoptic Endoscopic Evaluation of Swallowing; and tongue thickness (TT) by ultrasonography. Results: PMTIP, PTIE and TT were decreased compared with the reference values for healthy individuals and were not different between patients with and without vallecular residue. Conclusion: In ALS, PMTIP, PTIE and TT are not good predictors of vallecular residue in the tested volume and food consistency.

Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder with core clinical features of choreoathetosis, cognitive deficits and behavioral changes. It is a rare disorder, primarily affecting the Caucasian population, and rarely Asians. To date, there are only two reported, genetically proven familial HD cases in the Philippines. We present the case of a 39-year-old Filipino male with a 10-year history of progressive behavior and personality changes followed by cognitive decline and choreoathetotic movements. Neuroimaging showed atrophy of both caudate and putamen with putaminal rim sign. Genetic testing revealed a 47 CAG trinucleotide repeats in the Huntingtin gene; family history is negative. This is the first, genetically proven, sporadic and the third HD case in the Philippines. Despite its rarity, this report highlights the importance of including HD as a possible cause of adult-onset chorea among Filipinos.

Mutations in GBA which are causative of Gaucher disease in their biallelic form, are the most common genetic risk factor for Parkinson's disease (PD). The diagnosis of PD relies upon clinically defined motor features which appear after irreversible neurodegeneration. Prodromal symptoms of PD may provide a means to predict latent pathology, years before the onset of motor features. Previous work has reported prodromal features of PD in GBA mutation carriers, however this has been insufficiently sensitive to identify those that will develop PD. The Remote Assessment of Parkinsonism Supporting Ongoing Development of Interventions in Gaucher Disease (RAPSODI GD) study assesses a large cohort of GBA mutation carriers, to aid development of procedures for earlier diagnosis of PD.

Limb-girdle muscular dystrophies (LGMDs) represent a major group of muscle disorders. Treatment is sorely needed and currently expanding based on safety and efficacy adopting principles of single-dosing gene therapy for monogenic autosomal recessive disorders. Gene therapy has made in-roads for LGMD and this review describes progress that has been achieved for these conditions. This review first provides a background on the definition and classification of LGMDs. The major effort focuses on progress in LGMD gene therapy, from experimental studies to clinical trials. The disorders discussed include the LGMDs where the most work has been done including calpainopathies (LGMD2A/R1), dysferlinopathies (LGMD2B/R2) and sarcoglycanopathies (LGMD2C/R5, LGMD2D/R3, LGMD2E/R4). Early success in clinical trials provides a template to move the field forward and potentially apply emerging technology like CRISPR/Cas9 that may enhance the scope and efficacy of gene therapy applied to patient care.

Aim: To examine whether receiver operating characteristic plots and area under the curve (AUC) values may be potentially misleading when assessing cognitive screening instruments as binary predictors rather than as categorical or continuous scales. Materials & methods: AUC was calculated using different methods (rank-sum, diagnostic odds ratio) using data from test accuracy studies of two binary classifiers of cognitive status (applause sign, attended with sign), a screener producing categorical data (Codex), and a continuous scale screening test (Mini-Addenbrooke's Cognitive Examination). Results: For all screeners, AUC calculated using diagnostic odds ratio method was greater than using rank-sum method. When Codex and Mini-Addenbrooke's Cognitive Examination were analyzed as binary (single fixed threshold) tests, AUC using rank-sum method was lower than when screeners were analyzed as categorical or continuous scales, respectively. Conclusion: If cognitive screeners producing categorical or continuous measures are dichotomized, calculated AUC may be an underestimate, thus affecting screening test accuracy.

The prevalence of musculoskeletal (MSK) pain in people with Parkinson's disease (PD) is higher than that of age-matched controls. In this review, we outline what is known about MSK pain in PD, focusing on the neck, shoulder, knee, hip and low back. We also compare what is known about MSK pain in PD to what is known in older adults without PD. Finally, we outline areas of for future research related to MSK pain in people with PD.

Teriflunomide, a once daily, oral disease-modifying therapy, has demonstrated consistent efficacy, safety and tolerability in patients with relapsing forms of multiple sclerosis (MS) and with a first clinical episode suggestive of MS treated up to 12 years. This review is an update to a previous version that examined data from the teriflunomide core clinical development program and extension studies. Data have since become available from active comparator trials with other disease-modifying therapies, treatment-related changes in brain volume (analyzed using structural image evaluation using normalization of atrophy) and real-world evidence including patient-reported outcomes. Initial data on the potential antiviral effects of teriflunomide in patients with MS, including case reports of patients infected with the 2019 novel coronavirus (SARS-CoV-2), are also presented.

Aim: The objective was to determine the prevalence of the potentially inappropriate antipsychotics and anticholinergics used in patients with Parkinson's disease. Materials & methods: A cross-sectional study identified the prescription of antipsychotics, anticholinergics and drugs for the treatment of Parkinson's disease. The anticholinergic burden was evaluated, and quetiapine and clozapine were considered to be adequate antipsychotics. Results: 2965 patients with Parkinson's disease were identified. The presence of psychiatric disorders and other neurological pathologies was associated with a greater probability of receiving potentially inappropriate antipsychotic prescriptions. The presence of greater number of comorbidities was associated with a greater probability of receiving anticholinergics. Conclusion: Older age and associated comorbidities, especially psychiatric and neurological comorbidities, increase the likelihood of patients with Parkinson's disease being prescribed antipsychotics and anticholinergics.