Huntington's Disease

Huntington's disease is a hereditary disease caused by a defect in a single gene on Chromosome 4 that is inherited in an autosomal dominant fashion. The defect causes a part of DNA, called a CAG...

Eye disease

Gaucher's disease

Gaucher's (go-SHAYZ) disease occurs when certain harmful fatty substances accumulate to excessive levels in your liver, spleen, lungs, bone marrow and, less commonly, brain. This accumulation of...

Graves' disease

Cutaneous disease

Researchers discover new treatment possibilities for Lou Gehrig's disease

(Medical Xpress)—A team led by Dr. Alex Parker, a professor of pathology and cellular biology and a researcher at the University of Montreal Hospital Research Centre (CRCHUM), has identified an impo...

Controlling vascular disease may be key to reducing prevalence of Alzheimer's disease

(IOS Press) Over the last 15 years, researchers have found a significant association between vascular diseases such as hypertension, atherosclerosis, diabetes type 2, hyperlipidemia, and heart disease...

Study links disease, poverty and biodiversity

Poverty and disease often come together. That much is well understood. But how much does poverty foster disease? Or, how much can disease perpetuate poverty? And what's the role of nature, given that...

Paget Disease of the Breast

A fact sheet about Paget disease of the breast, a rare type of cancer that is sometimes called Paget disease of the nipple or mammary Paget disease.

MID1 complex binds with messenger RNA and controls synthesis of defective Huntingtin

Huntington's disease, also known as Huntington's chorea, is a hereditary brain disease causing movement disorders and dementia. In Germany, there are about 8,000 patients affected by Huntington's dise...

Researchers identify predictive biomarker for Parkinson's disease

Because there is currently no laboratory test that can diagnose Parkinson's disease, it is practically impossible to detect those individuals who are in the earliest stages of the disease. As a result...

Same genetic defect causes Pompe disease in both humans and dogs

Pompe disease, a severe glycogen storage disease appearing in Lapphunds is caused by a genetic defect in acid α-glucosidase gene. The same genetic mutation also causes the equivalent disease in h...

Canine Pompe disease can now be diagnosed with genetic test

Pompe disease, a severe glycogen storage disease appearing in Lapphunds is caused by a genetic defect in acid α-glucosidase gene. The same genetic mutation also causes the equivalent disease in human...

Characteristics of Susac syndrome: a review of all reported cases.

In Susac syndrome, occlusions of microvessels-presumed to be mediated by an autoimmune response to an as yet unknown antigen-lead to a characteristic clinical triad of CNS dysfunction, branch retinal...

Long-term clinical and radiological evolution in one case of Susac's syndrome.

Susac's syndrome is a rare idiopathic microangiopathy affecting the precapillary arterioles of the brain, retina and cochlea leading to the clinical triad of encephalopathy, retinopathy and hearing lo...

Branch retinal artery occlusion with visual field and multifocal erg in Susac syndrome: a case report.

A 19-year-old woman presented with subacute encephalopathy and subsequently developed hearing loss and occlusions of branches of the central retinal artery. The triad of microangiopathy of the brain,...

Microangiopathy of the inner ear, deafness, and cochlear implantation in a patient with Susac syndrome.

Abstract Conclusion: The cochlear implant was beneficial as an attempt to restore hearing and improve communication abilities in this patient with profound sensorineural hearing loss secondary to Susa...

Susac's syndrome, a rare, potentially severe or lethal neurological disease.

Susac's syndrome (SS) is a rare, immune-mediated endotheliopathy affecting the microvasculature of the brain, the inner ear and the retina. Clinical presentation is characterised by a triad: encephalo...