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Whole transcriptome analysis of unmutated sporadic ALS patients' peripheral blood reveals phenotype-specific gene expression signature.
Neurobiol Dis
March 2025
IRCCS Mondino Foundation, Pavia, Italy. Electronic address:
Amyotrophic lateral sclerosis (ALS) is an adult neurodegenerative disorder. According to clinical criteria, ALS patients can be classified into eight subgroups: classic, bulbar, pyramidal, pure lower motor neuron, flail arm, pure upper motor neuron, flail leg, and respiratory. There are no well-established molecular biomarkers for early diagnosis, prognosis, and progression monitoring of this fatal disease.
View Article and Find Full Text PDFExploring the Role of Variants in Italian ALS Patients.
Genes (Basel)
December 2024
Centro Clinico NeMO Adulti, Fondazione Serena Onlus-Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.
Variants in Cyclin F () have been associated to amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD) in a group of cases. The objectives of this study were to determine the contribution of in a large cohort of Italian ALS patients, to look for genotype-phenotype correlation of the mutations and to evaluate the -associated clinical features. We applied next-generation sequencing technologies on 971 unrelated Italian ALS patients and we filtered results to look for variants in gene.
View Article and Find Full Text PDFAmyotrophic lateral sclerosis established as a multistep process across phenotypes.
Eur J Neurol
January 2025
Brain and Nerve Research Centre, The University of Sydney, Concord Hospital, Sydney, New South Wales, Australia.
Background And Purpose: Given the accepted multistep process of disease causation in amyotrophic lateral sclerosis (ALS), the present study was undertaken to determine the number of steps required for disease onset across each of the ALS phenotypes.
Methods: Clinical and demographic data were prospectively accumulated using the Australian Motor Neurone Disease Registry (2005-2016), and age-specific incidence rates were calculated. Poisson regression was utilized to assess the relationship between log age-specific incidence and log age of onset, with McFadden's R used to assess the goodness of fit of the model.
Investigating the prevalence of mutations in amyotrophic lateral sclerosis: insights from an Italian cohort.
Brain Commun
September 2024
Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), Università degli Studi di Milano, 20122 Milan, Italy.
Article Synopsis
- The study focuses on the mitofusin 2 gene, which is essential for mitochondrial functions and is linked primarily to Charcot-Marie-Tooth disease type 2A, but also seen in some amyotrophic lateral sclerosis (ALS) cases.
- Researchers analyzed 385 ALS patients in Italy from 2008 to 2023, identifying 12 rare mutations in 19 individuals, with 8 variants showing potential pathogenic relevance.
- The clinical features observed included various ALS types, and patients showed a wide range of survival durations, indicating a need for further exploration of the impact of these mutations on motor neuron diseases.
Case report: A patient with brachio-cervical inflammatory myopathy was misdiagnosed as flail arm syndrome.
Front Immunol
July 2024
Department of Neurology and Neuroscience Center, The First Affiliated Hospital of Jilin University, Changchun, China.
Brachio-cervical inflammatory myopathy (BCIM) is a rare inflammatory myopathy characterized by dysphagia, bilateral upper limb atrophy, limb-girdle muscle weakness, and myositis-specific antibody (MSA) negativity. BCIM has a low incidence and is commonly associated with autoimmune diseases. We present a case report of a 55-year-old man with progressive upper limb weakness and atrophy, diagnosed with flail arm syndrome (FAS).
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