Frequency of C9orf72 hexanucleotide repeat expansion and SOD1 mutations in Portuguese patients with amyotrophic lateral sclerosis

Mutation frequency of the two main Amyotrophic Lateral Sclerosis (ALS)-related genes, C9orf72 and SOD1, varies considerably across the world. We analyzed those genes in a large population of Portuguese ALS patients (n=371) and recorded demographic and clinical features.Familial ALS (FALS) was disclosed in 11.6% of patients. Mutations in either SOD1 or C9orf72 were found in 9.2% of patients and accounted for 40% of FALS and 5.2% of sporadic ALS (SALS). SOD1 mutations were rare (0.83%), but a novel and probably disease-causing mutation was identified: p.Ala152Pro (c.457G>C).
Source: Neurobiology of Aging - Category: Neuroscience Authors: Source Type: research

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In conclusion, we focus on the various newer molecular mechanisms that are associated with the basic understanding of neuroinflammation in neurodegeneration.
Source: Neurochemistry International - Category: Neuroscience Source Type: research
Judith Machts, Stefan Vielhaber, Katja Kollewe, Susanne Petri, Joern Kaufmann, Mircea Ariel Schoenfeld
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Publication date: Available online 18 July 2018Source: Journal of Clinical NeuroscienceAuthor(s): Yasuyuki Ohta, Toru Yamashita, Nozomi Hishikawa, Kota Sato, Noriko Hatanaka, Mami Takemoto, Shinji Doutare, Koji AbeAbstractNeurological disease patients living alone or with a single caregiver need a support system to care for their psychological symptoms. We evaluated the clinical effects of a unique telephone call system that automatically called participants at their desired times once a week for 3 months. In total, 104 neurological disease patients and caregivers were evaluated by the geriatric depression scale, apathy ...
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research
Authors: Walker LC, Meadows MR, Du Y, March LK, Jones JK Abstract BACKGROUND: Amyotrophic lateral sclerosis (ALS) is devastating, leading to paralysis and death. Disease onset begins pre-symptomatically through spinal motor neuron (MN) axon die-back from musculature at ∼47 days of age in the mutant superoxide dismutase 1 (mSOD1G93A) transgenic ALS mouse model. This period may be optimal to assess potential therapies. We previously demonstrated that post-symptomatic adipose-derived stem cell conditioned medium (ASC-CM) treatment is neuroprotective in mSOD1G93A mice. We hypothesized that early disease onset treat...
Source: Restorative Neurology and Neuroscience - Category: Neurology Tags: Restor Neurol Neurosci Source Type: research
Publication date: 17 July 2018Source: Cell Reports, Volume 24, Issue 3Author(s): Elke Bogaert, Steven Boeynaems, Masato Kato, Lin Guo, Thomas R. Caulfield, Jolien Steyaert, Wendy Scheveneels, Nathalie Wilmans, Wanda Haeck, Nicole Hersmus, Joost Schymkowitz, Frederic Rousseau, James Shorter, Patrick Callaerts, Wim Robberecht, Philip Van Damme, Ludo Van Den BoschSummaryRNA-binding protein aggregation is a pathological hallmark of several neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). To gain better insight into the molecular interactions underlying thi...
Source: Cell Reports - Category: Cytology Source Type: research
(VIB (the Flanders Institute for Biotechnology)) The mutated and aggregated protein FUS is implicated in two neurodegenerative diseases: amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). Using a newly developed fruit fly model, researchers led by prof. Ludo Van Den Bosch (VIB-KU Leuven) have zoomed in on the protein structure of FUS to gain more insight into how it causes neuronal toxicity and disease.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
Muscle&Nerve,Volume 0, Issue ja, -Not available-.
Source: Muscle and Nerve - Category: Internal Medicine Authors: Source Type: research
Muscle&Nerve,Volume 0, Issue ja, -Not available-.
Source: Muscle and Nerve - Category: Internal Medicine Authors: Source Type: research
A therapy for an inherited form of amyotrophic lateral sclerosis extends survival and reverses signs of neuromuscular damage in mice and rats, a new study shows.
Source: Health News - - Category: Consumer Health News Source Type: news
Abnormalities in nucleic acid processing are associated with the development of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Mutations inMatrin 3 (MATR3), a poorly understood DNA- and RNA-binding protein, cause familial ALS/FTD, and MATR3 pathology is a feature of sporadic disease, suggesting that MATR3 dysfunction is integrally linked to ALS pathogenesis. Using a rat primary neuron model to assess MATR3-mediated toxicity, we noted that neurons were bidirectionally vulnerable to MATR3 levels, with pathogenic MATR3 mutants displaying enhanced toxicity. MATR3 ’s zinc finger domains partially m...
Source: eLife - Category: Biomedical Science Tags: Cell Biology Neuroscience Source Type: research
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