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- Dilliott, Allison A., et al.
(författare)
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Clinical testing panels for ALS : global distribution, consistency, and challenges
- 2023
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Ingår i: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. - : Taylor & Francis. - 2167-8421 .- 2167-9223. ; 24:5-6, s. 420-435
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Tidskriftsartikel (refereegranskat)abstract
- Objective: In 2021, the Clinical Genome Resource (ClinGen) amyotrophic lateral sclerosis (ALS) spectrum disorders Gene Curation Expert Panel (GCEP) was established to evaluate the strength of evidence for genes previously reported to be associated with ALS. Through this endeavor, we will provide standardized guidance to laboratories on which genes should be included in clinical genetic testing panels for ALS. In this manuscript, we aimed to assess the heterogeneity in the current global landscape of clinical genetic testing for ALS.Methods: We reviewed the National Institutes of Health (NIH) Genetic Testing Registry (GTR) and members of the ALS GCEP to source frequently used testing panels and compare the genes included on the tests.Results: 14 clinical panels specific to ALS from 14 laboratories covered 4 to 54 genes. All panels report on ANG, SOD1, TARDBP, and VAPB; 50% included or offered the option of including C9orf72 hexanucleotide repeat expansion (HRE) analysis. Of the 91 genes included in at least one of the panels, 40 (44.0%) were included on only a single panel. We could not find a direct link to ALS in the literature for 14 (15.4%) included genes.Conclusions: The variability across the surveyed clinical genetic panels is concerning due to the possibility of reduced diagnostic yields in clinical practice and risk of a missed diagnoses for patients. Our results highlight the necessity for consensus regarding the appropriateness of gene inclusions in clinical genetic ALS tests to improve its application for patients living with ALS and their families.
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| 2. |
- Karpul, David, et al.
(författare)
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Vibrotactile sensitivity of patients with HIV-related sensory neuropathy: An exploratory study
- 2019
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Ingår i: Brain and Behavior. - : WILEY. - 2162-3279 .- 2162-3279. ; 9:1
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Tidskriftsartikel (refereegranskat)abstract
- Background: HIV-associated distal polyneuropathy (HIV-PN) affects large and small sensory nerve fibers and can cause tactile insensitivity. This exploratory study forms part of an effort to apply subsensory electrical nerve stimulation (SENS) to improve tactile sensitivity of patients with HIV-PN. This work presented an opportunity to use a robust protocol to quantitatively describe the vibrotactile sensitivity of individuals with HIV-PN on effective antiretroviral therapy (ART) and correlate these findings with commonly used clinical vibration testing and scoring grades. Methods: The vibration perception thresholds (VPTs) of 20 patients with HIV-PN at three vibration frequencies (25, 50, and 128 Hz) were measured. We compare the vibration perception threshold (VPT) outcomes to an age- and gender-matched control cohort. We further correlated VPT findings with 128 Hz tuning fork (TF) assessments performed on the HIV-PN participants, accrued as part of a larger study. HIV-PN was defined as having at least one distal symmetrical neuropathic sign, although 18 of 20 had at least two neuropathic signs. Conclusions: HIV-PN participants were found to have lower VPT sensitivity than controls for all three vibration frequencies, and VPT was more sensitive at higher vibration frequencies for both HIV-PN and controls. VPT sensitivity was reduced with older age. Years on ART was correlated with VPT-25 Hz but not with VPT in general. Notably, VPT sensitivity did not correlate with the clinically used 128 Hz TF severity grades. Outcomes of tests for interaction with vibration frequency suggest that HIV-PN pathology does not affect all mechanoreceptors similarly.
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| 3. |
- Rostedt Punga, Anna, et al.
(författare)
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Epidemiology, diagnostics, and biomarkers of autoimmune neuromuscular junction disorders
- 2022
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Ingår i: Lancet Neurology. - : Elsevier. - 1474-4422 .- 1474-4465. ; 21:2, s. 176-188
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Forskningsöversikt (refereegranskat)abstract
- Autoimmune neuromuscular junction disorders are rare. However, myasthenia gravis is being increasingly recognised in people older than 50 years. In the past 5-10 years, epidemiological studies worldwide suggest an incidence of acetylcholine receptor antibody-positive myasthenia gravis of up to 29 cases per 1 million people per year. Muscle-specific tyrosine kinase antibody-positive myasthenia gravis and Lambert-Eaton myasthenic syndrome are about 20 times less common. Several diagnostic methods are available for autoimmune neuromuscular junction disorders, including serological antibody, electrophysiological, imaging, and pharmacological tests. The course of disease can be followed up with internationally accepted clinical scores or patient-reported outcome measures. For prognostic purposes, determining whether the disease is paraneoplastic is of great importance, as myasthenia gravis can be associated with thymoma and Lambert-Eaton myasthenic syndrome with small-cell lung cancer. However, despite well defined diagnostic parameters to classify patients into subgroups, objective biomarkers for use in the clinic or in clinical trials to predict the course of myasthenia gravis and Lambert-Eaton myasthenic syndrome are needed.
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