Phosphatemia is an Independent Prognostic Factor in Amyotrophic Lateral Sclerosis.

Objective: The objective of this study was to evaluate the prognostic value of several muscle damage biomarkers.

Methods: Data from Piemonte and Valle d'Aosta Amyotrophic Lateral Sclerosis (PARALS) were considered for this study. Survival was defined as the time from diagnosis to death, tracheostomy, or the censoring date.

Changes to Average Survival of Patients With Amyotrophic Lateral Sclerosis (1995-2018): Results From the Piemonte and Valle d'Aosta Registry.

Background And Objectives: The average survival of patients with amyotrophic lateral sclerosis (ALS) ranges from 2 to 5 years from symptom onset. However, it remains unclear whether this estimate has improved over time. The objective of this study was to analyze the survival trend of a large population-based cohort of patients with ALS over a 24-year period.

Brain Metabolic Features of FUS-ALS: A 2-[F]FDG-PET Study.

Objective: We aimed at evaluating the brain metabolic features of fused in sarcoma amyotrophic lateral sclerosis (FUS-ALS) compared with sporadic ALS (sALS), using 2-[fluorine-18] fluoro-2-deoxy-D-glucose positron emission tomography (2-[F]FDG-PET).

Methods: We employed the 2-sample t-test model of SPM12, implemented in MATLAB, to compare 12 FUS-ALS cases with 40 healthy controls (HC) and 48 sALS, randomly collected from the series of patients who underwent brain 2-[F]FDG-PET at the ALS Center of Turin (Italy) at diagnosis from 2009 to 2019. In the comparisons between cases and HC, we included age at PET and sex as covariates.

Sex-related differences in amyotrophic lateral sclerosis: A 2-[F]FDG-PET study.

Purpose: We investigated sex-related brain metabolic differences in Amyotrophic Lateral Sclerosis (ALS) and healthy controls (HC).

Methods: We collected two equal-sized groups of male (m-ALS) and female ALS (f-ALS) patients (n = 130 each), who underwent 2-[F]FDG-PET at diagnosis, matched for site of onset, cognitive status and King's stage. We included 168 age-matched healthy controls, half female (f-HC) and half male (m-HC).

Cognitive and Behavioral Features of Patients With Amyotrophic Lateral Sclerosis Who Are Carriers of the Pathogenic Variant.

Background And Objectives: patients are considered particularly prone to cognitive involvement, but no systematic studies of cognitive impairment in patients are available. The aim of this article was to depict in depth the cognitive-behavioral characteristics of a cohort of patients with amyotrophic lateral sclerosis (ALS) carrying pathogenetic variants followed by an ALS referral center.

Methods: We enrolled all patients with ALS seen at the Turin ALS expert center in the 2009-2021 period who underwent extensive genetic testing and a neuropsychological battery encompassing executive function, verbal memory, language, visual memory, visuoconstructive abilities, attention/working memory, psychomotor speed, nonverbal intelligence, cognitive flexibility, social cognition, and behavior.

A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease.

Recently, pathogenic expansions (range 40-64 CAG repeats) in the HTT gene have been found in patients diagnosed with pure frontotemporal dementia/amyotrophic lateral sclerosis (FTD/ALS). We report a mother with Huntington's disease (HD) associated with motor neuron disease (MND) signs and her daughter suffering from ALS with subtle signs of HD, both carrying a pathogenic allele of the HTT gene (i.e.

High serum uric acid levels are protective against cognitive impairment in amyotrophic lateral sclerosis.

Background: Uric acid (UA) has emerged as a factor that can modify cognitive function both in the general population and in people with neurodegenerative disorders. Since very few data are available concerning amyotrophic lateral sclerosis (ALS), we explored the correlation of UA levels and cognitive impairment in a large cohort of ALS patients.

Methods: We enrolled ALS patients consecutively seen at the Turin ALS expert center in the 2007-2018 period who underwent both cognitive/behavioral and UA evaluation at diagnosis.

Exposure to electromagnetic fields does not modify neither the age of onset nor the disease progression in ALS patients.

Being exposed to electromagnetic fields has been suggested to increase the risk of developing Amyotrophic Lateral Sclerosis (ALS). Here, we investigated the effect of exposure to electromagnetic fields on ALS onset age and progression rate (ΔALSFRS-r). A large cohort of ALS patients (n = 1098) was geolocalized at the time of their diagnosis.

Brain metabolic differences between pure bulbar and pure spinal ALS: a 2-[F]FDG-PET study.

Background: MRI studies reported that ALS patients with bulbar and spinal onset showed focal cortical changes in corresponding regions of the motor homunculus. We evaluated the capability of brain 2-[F]FDG-PET to disclose the metabolic features characterizing patients with pure bulbar or spinal motor impairment.

Methods: We classified as pure bulbar (PB) patients with bulbar onset and a normal score in the spinal items of the ALSFRS-R, and as pure spinal (PS) patients with spinal onset and a normal score in the bulbar items at the time of PET.

Role of brain 2-[F]fluoro-2-deoxy-D-glucose-positron-emission tomography as survival predictor in amyotrophic lateral sclerosis.

Purpose: The identification of prognostic tools in amyotrophic lateral sclerosis (ALS) would improve the design of clinical trials, the management of patients, and life planning. We aimed to evaluate the accuracy of brain 2-[F]fluoro-2-deoxy-D-glucose-positron-emission tomography (2-[F]FDG-PET) as an independent predictor of survival in ALS.

Methods: A prospective cohort study enrolled 418 ALS patients, who underwent brain 2-[F]FDG-PET at diagnosis and whose survival time was available.

Amyotrophic lateral sclerosis with SOD1 mutations shows distinct brain metabolic changes.

Purpose: Neuropathological data suggest that ALS with SOD1 mutations (SOD1-ALS) is a distinct form of ALS. We evaluated brain metabolic changes characterizing SOD1-ALS as compared to sporadic ALS (sALS), employing fluorodeoxyglucose-positron-emission tomography (F-FDG-PET).

Methods: We included 18 SOD1-ALS patients, 40 healthy controls (HC), and 46 sALS patients without mutations in SOD1, TARDBP, FUS, and C9ORF72, randomly selected from 665 subjects who underwent brain F-FDG-PET at diagnosis between 2008 and 2019 at the ALS Centre of Turin.

Amyotrophic lateral sclerosis caregiver burden and patients' quality of life during COVID-19 pandemic.

To assess patients Quality of life (QoL) and the burden of their caregivers during Covid-19 pandemic and specifically the impact of two-month lockdown period. : In April 2020, a total of 60 patients and 59 caregivers were administered by phone scales assessing patients' QoL (McGill QoL Questionnaire), general health status (EQ-5D-5L), and caregiver burden (Zarit Burden Interview). The administration was repeated one month after the end of lockdown measures, with the addition of a qualitative questionnaire (COVID-QoL Questionnaire) exploring family reorganization and personal perception of lock down.

The interplay among education, brain metabolism, and cognitive impairment suggests a role of cognitive reserve in Amyotrophic Lateral Sclerosis.

We tested the Cognitive Reserve (CR) hypothesis in Amyotrophic Lateral Sclerosis (ALS), enrolling 111 patients, using education as CR proxy, F-FDG-PET to assess brain damage, and ECAS to measure cognition. Education was regressed out against brain metabolism, including age, sex, spinal/bulbar onset, ALSFRS-R, and ECAS as covariates. Clusters showing a significant correlation were used as seed regions in an interregional correlation analysis (IRCA) in the ALS group and in 40 controls.

Brain metabolic changes across King's stages in amyotrophic lateral sclerosis: a F-2-fluoro-2-deoxy-D-glucose-positron emission tomography study.

Purpose: To assess the brain metabolic correlates of the different regional extent of ALS, evaluated with the King's staging system, using brain F-2-fluoro-2-deoxy-D-glucose-PET (F-FDG-PET).

Methods: Three hundred ninety ALS cases with King's stages 1, 2, and 3 (n = 390), i.e.

Telemedicine for patients with amyotrophic lateral sclerosis during COVID-19 pandemic: an Italian ALS referral center experience.

We describe the telemedicine experience of an Italian ALS tertiary Center during COVID-19 pandemic. A total of 144 visits were scheduled between 6th March and 6th April 2020. These mostly consisted of neurological or psychological visits (139, 96.