HTRA1 mutations tied to cerebral small vessel disease

August 11, 2017

(HealthDay)—Heterozygous HTRA1 mutations may play a role in familial cerebral small vessel disease (SVD), according to a study published online Aug. 6 in CNS Neuroscience & Therapeutics.

Ilaria Di Donato, M.D., from the University of Siena in Italy, and colleagues performed mutational analysis of HTRA1 gene in 142 NOTCH3-negative and 160 healthy age-matched controls.

The researchers found that five different HTRA1 heterozygous were detected in nine patients from five unrelated families. In these patients, the clinical phenotype was typical of SVD, and the onset was pre-senile. A subcortical leukoencephalopathy, with involvement of the external and internal capsule, , and multiple lacunar infarcts, was seen on brain magnetic resonance imaging. Additionally, cerebral microbleeds were seen, but anterior temporal lobe involvement was not present.

"Our observation further supports the pathogenic role of the heterozygous HTRA1 mutations in familial SVD," the authors write.

Explore further: Cerebral microbleeds in MS are associated with increased risk for disability

More information: Abstract
Full Text (subscription or payment may be required)

Related Stories

Cerebral microbleeds in MS are associated with increased risk for disability

June 16, 2016
Leaky blood vessels in the brain called cerebral microbleeds are associated with an increased risk of physical and cognitive disability in patients with multiple sclerosis (MS), according to a new study by researchers in ...

MRI effectively measures hemochromatosis iron burden

October 3, 2015
(HealthDay)—Magnetic resonance imaging (MRI) is an accurate and safe tool for the detection of low levels of iron overload in patients with hereditary hemochromatosis, according to a letter to the editor published online ...

Microbleeds, diminished cerebral blood flow in cognitively normal older patients

July 13, 2015
A small imaging study suggests cortical cerebral microbleeds in the brain, which are the remnant of red blood cell leakage from small vessels, were associated with reduced brain blood flow in a group of cognitively normal ...

Disruption of NAD synthesis tied to congenital malformations

August 10, 2017
(HealthDay)—For humans and mice, disruption of nicotinamide adenine dinucleotide (NAD) synthesis causes deficiency of NAD, resulting in congenital mutations, according to a study published in the Aug. 10 issue of the New ...

Mutations in COQ2 linked to multiple-system atrophy

June 13, 2013
(HealthDay)—Functionally impaired variants in the COQ2 gene, which encodes the enzyme parahydroxybenzoate-polyprenyl transferase, have been identified in multiplex families with multiple-system atrophy and in patients with ...

Genetically inherited high cholesterol increases long-term risks of CHD and stroke

June 29, 2016
Patients who experience high cholesterol due to an inherited genetic disorder from one of their parents—heterozygous familial hypercholesterolemia—are much more likely than those with average cholesterol levels to have ...

Recommended for you

Researchers find monkey brain structure that decides if viewed objects are new or unidentified

August 18, 2017
A team of researchers working at the University of Tokyo School of Medicine has found what they believe is the part of the monkey brain that decides if something that is being viewed is recognizable. In their paper published ...

Artificial neural networks decode brain activity during performed and imagined movements

August 18, 2017
Artificial intelligence has far outpaced human intelligence in certain tasks. Several groups from the Freiburg excellence cluster BrainLinks-BrainTools led by neuroscientist private lecturer Dr. Tonio Ball are showing how ...

Study of nervous system cells can help to understand degenerative diseases

August 18, 2017
The results of a new study show that many of the genes expressed by microglia differ between humans and mice, which are frequently used as animal models in research on Alzheimer's disease and other neurodegenerative disorders.

How whip-like cell appendages promote bodily fluid flow

August 18, 2017
Researchers at Nagoya University have identified a molecule that enables cell appendages called cilia to beat in a coordinated way to drive the flow of fluid around the brain; this prevents the accumulation of this fluid, ...

Researchers make surprising discovery about how neurons talk to each other

August 17, 2017
Researchers at the University of Pittsburgh have uncovered the mechanism by which neurons keep up with the demands of repeatedly sending signals to other neurons. The new findings, made in fruit flies and mice, challenge ...

Neurons involved in learning, memory preservation less stable, more flexible than once thought

August 17, 2017
The human brain has a region of cells responsible for linking sensory cues to actions and behaviors and cataloging the link as a memory. Cells that form these links have been deemed highly stable and fixed.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.