The genetic architecture of ALS

phylogeography and genetic diversity of the lesser mouse- eared bat (myotis blythii) in iran

in current study, 63 samples of bat populations collected from differ regions were used for evaluating the geographic variations. twenty cranial and dental characters for traditional morphometric and landmarks method on the ventral, dorsal skull and mandible for geometry morphometric studies were used. statistical analyses of traditional morphometric and geometry morphometric data indicated low...

ALS genetic epidemiology 'How simplex is the genetic epidemiology of ALS?'

First, how genetic is amyotrophic lateral sclerosis (ALS)? We know that there are clear ‘Mendelian’ forms of the disease where the classic Mendelian rules of inheritance apply, and several first-degree and second-degree relatives are affected by the disease. Prospective population-based registries show that the rate of this Mendelian form of ALS is about 5% (and not 10% as most often is assumed...

Is all ALS genetic?

Genetic testing in ALS

OBJECTIVE To determine the degree of consensus among clinicians on the clinical use of genetic testing in amyotrophic lateral sclerosis (ALS) and the factors that determine decision-making. METHODS ALS researchers worldwide were invited to participate in a detailed online survey to determine their attitudes and practices relating to genetic testing. RESULTS Responses from 167 clinicians fro...

The evolving genetic risk for sporadic ALS.

OBJECTIVE To estimate the genetic risk conferred by known amyotrophic lateral sclerosis (ALS)-associated genes to the pathogenesis of sporadic ALS (SALS) using variant allele frequencies combined with predicted variant pathogenicity. METHODS Whole exome sequencing and repeat expansion PCR of C9orf72 and ATXN2 were performed on 87 patients of European ancestry with SALS seen at the University ...