Log in to search using one of your social media accounts:

 

Genotype-phenotype study in patients with VCP valosin-containing protein mutations associated with multisystem proteinopathy.

Genotype-phenotype study in patients with VCP valosin-containing protein mutations associated with multisystem proteinopathy. Clin Genet. 2017 Jul 10;: Authors: Al-Obeidi E, Al-Tahan S, Surampalli A, Goyal N, Wang A, Hermann A, Omizo M, Smith C, Mozaffar T, Kimonis V Abstract Mutations in valosin-containing protein (VCP), an ATPase involved in protein degradation and autophagy, cause VCP disease, a progressive autosomal dominant adult onset multisystem proteinopathy. The goal of this study is to examine if phenotypic differences in this disorder could be explained by the specific gene mutations. We therefore studied 231 individuals (118 males, 113 females) from 36 families carrying 15 different VCP mutations. We analyzed correlation between the different mutations and prevalence, age of onset and severity of myopathy, PDB, and FTD, and other comorbidities. Myopathy, PDB and FTD was present in 90%, 42% and 30% of the patients respectively, beginning at an average age of 43 years, 41 years, and 56 years respectively. Approximately 9% of patients with VCP mutations had an ALS phenotype, 4% had been diagnosed with Parkinson's disease (PD), and 2% had been diagnosed with Alzheimer's disease (AD). Large inter and intra-familial variation made establishing correlations difficult. We did not find a correlation between the mutation type and the incidence of any of the clinical features associated with VCP disease, except for the absence of PDB with the R159C muta...
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research

Related Links:

Authors: Elufioye TO, Berida TI, Habtemariam S Abstract Neuroprotection is the preservation of the structure and function of neurons from insults arising from cellular injuries induced by a variety of agents or neurodegenerative diseases (NDs). The various NDs including Alzheimer's, Parkinson's, and Huntington's diseases as well as amyotropic lateral sclerosis affect millions of people around the world with the main risk factor being advancing age. Each of these diseases affects specific neurons and/or regions in the brain and involves characteristic pathological and molecular features. Hence, several in vitro and ...
Source: Evidence-based Complementary and Alternative Medicine - Category: Complementary Medicine Tags: Evid Based Complement Alternat Med Source Type: research
BACKGROUND: Vision-based measures have been shown to be useful markers in multiple sclerosis (MS), Alzheimer and Parkinson disease. Therefore, these testing paradigms may have applications to populations explaining repetitive head trauma that has been asso...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news
(University of Chicago Medical Center) Nearly one out of every three humans on earth has a lifelong infection with the brain-dwelling parasite Toxoplasma gondii. In the Sept. 13 issue of Scientific Reports, researchers from multiple institutions describe efforts to learn how infection with the parasite Toxoplasma gondii may alter, and in some cases amplify, several brain disorders, including epilepsy, Alzheimer's and Parkinson's diseases as well as some cancers.
Source: EurekAlert! - Biology - Category: Biology Source Type: news
Source: Movement Disorders - Category: Neurology Authors: Tags: Hot Topics Source Type: research
ConclusionThe overlap of cognitive impairment across different neurodegenerative diseases suggests that PD-MCI is likely to result from a mixture of complex pathophysiologies, rather than being a distinct pathologic entity. Differentiating MCI from other organic symptoms in PD would facilitate novel therapeutic strategies.
Source: Translational Neurodegeneration - Category: Neurology Source Type: research
(MedPage Today) -- News and commentary from the world of neurology and neuroscience
Source: MedPage Today Psychiatry - Category: Psychiatry Source Type: news
(Natural News) Just one century ago in America, all of the most popular chronic diseases and disorders that we know so well today barely existed, including cancer, diabetes type 2, Alzheimer’s, arthritis, osteoporosis, Parkinson’s and heart disease. Still, nearly every medical doctor in the United States blames hereditary genes for these preventable health problems, as...
Source: NaturalNews.com - Category: Consumer Health News Source Type: news
Research carried out at the University of Kent has the potential to influence the future search for treatment of neurodegenerative diseases that are linked to a family of protein molecules known as 'amyloid'. The findings by a team of scientists led by Dr Wei-Feng Xue in the School of Biosciences could lead to a better understanding of the diseases, and suggest potential diagnostics and therapeutics strategies to combat amyloid-associated disease progression and their possible infectivity.
Source: World Pharma News - Category: Pharmaceuticals Tags: Featured Research Research and Development Source Type: news
This article is part of the special issue entitled 'Muscarinic Receptors in the Central Nervous System'. PMID: 28911965 [PubMed - as supplied by publisher]
Source: Neuropharmacology - Category: Drugs & Pharmacology Authors: Tags: Neuropharmacology Source Type: research
This study developed the first procedure for the removal of epithelium from the lung airway with the full preservation of vascular epithelium, which could be applied in vivo to treat diseases of lung epithelium. Whole lung scaffolds with an intact vascular network may also allow for recellularization using patient-specific cells and bioengineering of chimeric lungs for transplantation. In addition to the clinical potential, lung scaffolds lacking an intact epithelial layer but with functional vascular and interstitial compartments may also serve as a valuable physiological model for investigating (i) lung development, (ii)...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
More News: Alzheimer's | Genetics | Parkinson's Disease | Study