Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis.

Mutations in the FUS gene have been recently associated with amyotrophic lateral sclerosis (ALS). While most of the variants have been identified in patients with a family history of the disease, a few mutations were also found in sporadic patients. Considering this, we wanted to evaluate the frequency of mutations in the coding region of the FUS gene in a sporadic ALS (SALS) cohort compared to a control population.

Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis.

Objective: To identify novel disease-causing genes for amyotrophic lateral sclerosis (ALS).

Design, Setting, And Patients: We carried out a systematic mutation screening of the entire coding regions of 29 candidate genes encoding critically important proteins for proper differentiation and development of corticospinal motor neurons in 190 patients with familial and sporadic ALS.

Main Outcome Measures: We focused our analysis on coding variants and evaluated the distribution of nonsynonymous and synonymous variants in our cohort of patients with ALS.

Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disease characterized by the degeneration of upper and lower motor neurons. Genetic studies have led, thus far, to the identification of 12 loci and 9 genes for familial ALS (FALS). Although the distribution and impact of superoxide dismutase 1 mutations has been extensively examined for over a decade, the recently identified FALS-associated FUS gene has been less studied.

Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis.

Mutations in the OPTN gene are well known to be associated with the development of glaucoma. Recently, unique variations in the same gene have been reported in familial and sporadic Japanese cases of amyotrophic lateral sclerosis (ALS). We set out to evaluate the frequency of OPTN mutations in a sample of our familial and sporadic ALS cohorts.

Deaths in a head-down position: a case report and review of the literature.

Deaths in a head-down position, mostly accidental events, are rare deaths in which a victim is found in an inverted body posture, with marked congestion of dependent body parts and no definite pathoanatomical cause of death. Such an exclusion diagnosis can only be put forward after elimination of other possible causes of death, following a scene investigation, medical record review, complete autopsy, and toxicological analysis. Particular attention should be taken not to confuse deaths by head-down position from the more usual positional asphyxia.