Amyotrophic lateral sclerosis & frontotemporal degeneration最新文献

Objective: To gather comprehensive insights regarding current neuropsychological assessment practices in PRECISION-ALS, a pan-European research and industry consortium, to propose areas which can be harmonized and facilitate more robust cross-country comparisons.

Methods: Representatives from PRECISION-ALS sites were surveyed with a semi-structured interview, gathering information on how people with ALS are assessed for cognitive/behavioral change, including how they are initially screened, classified as impaired/unimpaired, and followed up longitudinally. Assessment practices across PRECISION-ALS sites were summarized using descriptive analysis.

Results: Ten of the eleven PRECISION-ALS sites perform cognitive and/or behavioral screening at least once during the course of the disease, using the Edinburgh Cognitive and Behavioral ALS Screen, either for clinical or research purposes. All centers categorize impairment, but differ how it is defined, with some using local norms, and others using other countries' norms. Most sites account for age and education, but differ in how these factors are considered. Longitudinal protocols vary in terms of the number of assessments, time intervals, and use of alternative versions. Behavioral screening is more consistently implemented, with the ECAS caregiver interview as the standard tool, however there is a lack of clarity in how this data is applied. Many sites supplement cognitive and behavioral screening with additional measures of mood and/or neuropsychiatric symptoms.

Conclusions: These findings illustrate areas of commonality and divergence in neuropsychological screening practices. Site-specific variations are likely to confound research involving cross-country data-sharing. PRECISION-ALS, in generating prospective population-based datasets, will provide agreed harmonized protocols for neuropsychological assessment across participating sites.

Objective: Primary Lateral Sclerosis (PLS) is a progressive neurodegenerative disease with no current therapy. So far, the lack of a specific evaluation instrument has been a barrier for clinical trials. The Primary Lateral Sclerosis Functional Rating Scale (PLSFRS) is a novel tool designed to specifically assess disease progression and functional impairment in patients with PLS. We sought to translate and validate the PLSFRS to the Spanish language. Methods: We back-translated the PLSFRS scale to Spanish and assessed a cohort of 10 PLS patients by two independent raters. Both inter- and intrarater reliability were evaluated, with assessments conducted through both in-person and over-the-phone interviews. Results: The PLSFRS demonstrated excellent inter- and intrarater reliability for the total score (ICC = 0.90-1.00) and for most subdomains (ICC > 0.90). Agreement between in-clinic and over-the-phone assessments was similarly strong. Squared weighted kappa coefficients for individual items indicated substantial to almost perfect agreement. Bland-Altman analysis revealed no significant systematic bias, with mean differences close to zero and acceptable limits of agreement. Conclusion: This study demonstrates high reliability for the Spanish version of the PLSFRS scale.

Background: This study aimed to synthesize existing research on pre-diagnostic blood lipid levels and the risk of amyotrophic lateral sclerosis (ALS) onset in adults, and the quality of this evidence.

Methods: A systematic review was conducted (8 March 2024, updated 19 June 2025) across six databases (PubMed, Embase, CINAHL, Scopus, Cochrane Library, and Web of Science) following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, identifying adult clinical studies of blood lipids measured prior to ALS onset. Studies with high risk of bias, assessed using the Quality in Prognostic Studies tool, were excluded. Standardized mean difference and 95% confidence intervals were calculated. Study outcomes were categorized by lipid class as indicating reduced, no effect, or increased ALS risk. Certainty of evidence was evaluated using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) framework.

Results: Of 7222 studies identified, eight (n = 7 sterol lipids, n = 1 fatty acids) met inclusion. No significant differences in sterol lipids were observed between ALS cases and controls (I² = 69.9-77.3%). Most studies reported no association or increased risk between ALS onset and higher total cholesterol, triglycerides, LDL-C, HDL-C, or LDL/HDL ratio. For HDL-C, two studies showed protective associations. A single fatty acid study reported increased disease risk with higher arachidonic acid and reduced risk with higher alpha-linoleic acid. Certainty of evidence was low to very low.

Conclusion: Circulating sterol lipid levels were inconsistently associated with ALS risk. The overall low certainty of evidence, and variability of findings across studies call for research using standardized designs, high-resolution lipid profiling, and robust causal inference approaches to clarify the role of lipids in ALS risk.

Objective: To summarize amyotrophic lateral sclerosis (ALS) incidence in all 50 states and the District of Columbia from 2012 to 2019. In 2010, the Agency for Toxic Substances and Disease Registry (ATSDR) launched the congressionally mandated National ALS Registry (Registry) to determine the incidence and prevalence of ALS within the United States, characterize demographics, and identify potential risk factors. This is the first analysis of state-level ALS incidence estimates for all 50 states and the District of Columbia.

Methods: ALS is not a notifiable disease in the United States. As such, the Registry identifies cases using existing national administrative databases (Medicare, Veterans Health Administration, and Veterans Benefits Administration), and a secure web portal that identifies cases not included in the national databases. Confirmed and likely cases are deduplicated and counted as incident cases for the first year they are identified using a validated algorithm. Incident counts, incident rates, and rate ratios were then calculated.

Results: State-level age-adjusted overall incidence rates for 2012 to 2019 ranged from 0.65 per 100,000 persons (Alaska) to 2.25 per 100,000 persons (Vermont), with an overall incidence of 1.44 per 100,000 persons in the United States. New England and the upper Midwest regions had higher incidence rates than national rates.

Conclusions: These findings summarize the incidence of ALS for all 50 states from 2012 to 2019. This is a continuing effort to identify ALS cases nationally. The establishment of the Registry allows for epidemiological analyses of ALS data and the assessment of potential risk factors.

Objective: Noninvasive ventilation (NIV) improves quality of life and extends survival in amyotrophic lateral sclerosis (ALS), yet NIV uptake among Australians with ALS has been estimated at 19%. This study aimed to identify demographic and disease-related factors associated with NIV uptake among people with ALS (pwALS). Methods: A national cross-sectional survey. PwALS (or their family caregivers) completed an online survey about their NIV use and healthcare experiences. Survey data were analyzed descriptively. Associations between demographic factors and three dichotomous NIV outcomes: "using NIV"; "offered and accepted NIV"; and "discussed NIV with a healthcare professional (HCP)" were investigated using multivariate logistic regression modeling. Results: A total of 224 responses were received, of which 201 completed the demographic questions. Mean (SD) age was 64 (11) years, 62% were male, and median (IQR) time since diagnosis was 2 (1-5) years. Forty-six percent were using NIV; 6% had started NIV and stopped; 4% had accepted a referral but not started; 3% had declined NIV; and 26% had never discussed NIV with a HCP. Demographic factors positively associated (p < 0.05) with at least one NIV outcome included: being male, age < 65 years, residing in a metropolitan/regional area, attending a ALS multidisciplinary clinic, and longer time since diagnosis. Conclusion: NIV uptake among Australians with ALS appears to have increased in the last decade, however this survey identified concerning disparities related to sex, age, and location of residence. Research exploring the underlying causes of these disparities is urgently required so that targeted interventions can be designed and implemented.

Objective: To adapt successive versions B and C of the Edinburgh Cognitive and Behavioral Screen (ECAS) into Persian and evaluate cognitive and behavioral changes over time in Iranian ALS patients.

Methods: This study included 38 ALS patients in the ECAS-B group and 29 in the ECAS-C group, diagnosed between May 2021 and February 2023 at the Iranian Center of Neurological Research, Imam Khomeini Hospital, Tehran, Iran. Additionally, 59 age- and education-matched healthy controls were enrolled (30 for ECAS-B and 29 for ECAS-C). The Montreal Cognitive Assessment (MoCA) was used to validate the ECAS versions.

Results: The Persian versions of ECAS-B and ECAS-C demonstrated strong internal consistency (Cronbach's alpha: 0.88 for ECAS-B and 0.89 for ECAS-C) and a positive correlation with MoCA and ALS-FRS-r scores. The area under the ROC curve was 0.851 for ECAS-B and 0.861 for ECAS-C. ECAS-C scores were significantly lower than ECAS-B scores, suggesting a faster cognitive decline over time. Optimal cutoff values of 72 for ECAS-B and 78 for ECAS-C were identified for detecting cognitive impairment. Cognitive impairment was observed in 10 patients (26.31%) in the ECAS-B group and 15 patients (51.72%) in the ECAS-C group.

Conclusions: The Persian versions of ECAS-B and ECAS-C demonstrate good validity and reliability for detecting cognitive impairment and tracking cognitive decline in ALS patients.