Sirs, About 3% of cases of amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disorder, are due to mutations in the copper–zinc superoxide dismutase gene, SOD1 . We have analyzed the variation in age at onset (AAO) in pedigrees with SOD1 mutations that are both common and have...
Here we report a novel mutation in exon 4 of SOD1 gene in a 55-year-old ALS patient belonging to a large Italian family with ALS first clinically described in 1968. In the family the clinical presentation was characterized by relatively early age of onset, spinal onset with proximal ...
We find that FAD-APP mutations destabilize the APP-TM dimer and increase the population of APP peptide monomers. Conclusion The dissociation constants are correlated to both the Aβ42/Aβ40 ratio and the mean age of disease onset in AD patients. We also show that these TM-peptides reduce ...
We evaluated the clinicopathological features of familial amyotrophic lateral sclerosis (ALS) with the fused in sarcoma (FUS) P525L mutation. Two sisters and their mother had a similar clinical course, which was characterized by the development of limb weakness at a young age with rapid disease ...
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Individuals affected with ALS4 usually have an onset of symptoms at age <25 years, a slow rate of progression, and a normal life span. The ALS4 ... YZ Chen,CL Bennett,HM Huynh,... - 《Americ...
Twelve cases of adult-onset progressive muscular atrophy variant of amyotrophic lateral sclerosis (PMA/ALS) were studied in a small rural population of 1500 in the Republic of Belarus (former Soviet Union). The patients were members of three apparently related kindreds, each showing autosomal domina...
Mutations in SOD1, ANG, VAPB, TARDBP and FUS genes have been identified in amyotrophic lateral sclerosis (ALS). Methods. We estimated the relative contributions of the different mutations to ALS by systematically screening a cohort of 162 families enrolled in France and 500 controls (1000 ...
The nature of the “toxic gain of function” that results from amyotrophic lateral sclerosis (ALS)-, Parkinson-, and Alzheimer-related mutations is a matter of debate. As a result no adequate model of any neurodegenerative disease etiology exists. We dem
site of disease onset predominantly a limb rather than bulbar and a mean age of disease onset of approximately 57 years. The mean delay in clinical diagnosis forALS patientsincluded in the study was 14.8 months. A higher percentage of patients with rapid progression had bulbar-onset disease...
‘anticipation’, in the form of a declining age of onset with each passing generation. I consider two models of leukemia genesis that can potentially account for anticipation in familial cases and incorporate epidemiological observations made in sporadic cases. The first model is analogous to ...