Two case reports of an unusual association between Klippel-Feil syndrome and amyotrophic lateral sclerosis: Do they share same genetic defect?

Klippel-Feil syndrome (KFS) is an unusual skeletal disorder characterized by congenital fusion of two or more cervical vertebrae which can be sporadic...
2MB Sizes 1 Downloads 0 Views

Recommend Documents

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia.
We have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological relationship between the diseases. Here, we investigate the genetic relationship betwee

No association between gluten sensitivity and amyotrophic lateral sclerosis.
To examine evidence for a role of gluten sensitivity (GS) or celiac disease (CD) in ALS etiology, we included participants from a population-based case-control study in The Netherlands between January 2006 and December 2015. We compared levels and se

Association between diabetes and amyotrophic lateral sclerosis in Sweden.
Energy metabolism is altered in patients with amyotrophic lateral sclerosis (ALS) but the role of diabetes is largely unknown.

Neurophysiological Differences between Flail Arm Syndrome and Amyotrophic Lateral Sclerosis.
There are many clinical features of flail arm syndrome (FAS) that are different from amyotrophic lateral sclerosis (ALS), suggesting they are probably different entities. Studies on electrophysiological differences between them are limited at present

Tale of two diseases: amyotrophic lateral sclerosis and frontotemporal dementia.
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) were independently described in clinical and pathological details more than a century ago. Recent breakthrough discoveries identifying common genes that are causal to either ALS or

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n = 1,861). Through imputation

Pelvic organ prolapse and stress urinary incontinence, do they share the same risk factors?
To determine whether there are differences in the etiologies of two of the most common pelvic floor disorders (PFD), pelvic organ prolapse (POP) and stress urinary incontinence (SUI).

Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease including about 15% of genetically determined forms. A de novo mutation in the SS18L1 (also known as CREST or KIAA0693) gene encoding the calcium-responsive transactivator and/

Lack of association between APOE gene polymorphisms and amyotrophic lateral sclerosis: a comprehensive meta-analysis.
Several studies have evaluated the association between APOE gene polymorphisms and the risk for amyotrophic lateral sclerosis (ALS), with inconclusive results. The aim of our study was to further define the risk associated with carriage of the APOE a