WHAT ARE HEREDITARY ATAXIAS? Ataxia is a neurologic disorder in which there is loss of coordination of movement. It can result from dysfunction of the cerebellum and brain stem and their afferent or efferent pathways. The etiology of ataxia can be divided into 3 main categories: acquired, sporadic, and hereditary. Hereditary ataxias are one of the largest groups of hereditary progressive neurod...

Hereditary etiologies of pancreatic and hepatobiliary cancers are increasingly recognized. An estimated >10% of pancreatic and increasing number of hepatobiliary cancers are hereditary. The cumulative risk of hereditary pancreatic cancer ranges from measurable but negligible in cystic fibrosis to a sobering 70% in cases of hereditary pancreatitis. Candidates for pancreatic cancer surveillance a...

background degenerative retinal diseases, including age related macular degeneration, glaucoma, and hereditary retinal dystrophies are major causes of blindness. the principal defect in these diseases is cell loss which is amenable to both cell based neuroprotective and neuroregenerative therapies. to briefly review the lines of research and potential candidates for cell based therapies among r...

Hereditary transthyretin amyloidosis belongs to a group of diseases with an autosomal dominant type transmission and heterogeneous clinical picture, which depends on the gene mutation. The leptomeningeal form is rare phenotypic variant predominant involvement brain spinal cord meninges, as well cortical meningeal vessels. main manifestations this phenotype include cephalalgic syndrome, episodes...

What are Hereditary Ataxias? Ataxia is a neurologic disorder in which there is loss of coordination of movement. It can result from dysfunction of the cerebellum and brain stem and their afferent or efferent pathways. The etiology of ataxia can be divided into 3 main categories: acquired, sporadic, and hereditary. Hereditary ataxias are one of the largest groups of hereditary progressive neurod...

Neurodegenerative diseases are the hereditary and sporadic diseases which are characterized by progressive neuronal loss of the nervous system and are emerging as the leading cause of death, disabilities, and a socioeconomic burden due to an increase in life expectancy. There are many neurodegenerative diseases including Alzheimer’s disease, Parkinson’s, disease, amyotrophic lateral...

BACKGROUND Although biomedical information is growing rapidly, it is difficult to find and retrieve validated data especially for rare hereditary diseases. There is an increased need for services capable of integrating and validating information as well as proving it in a logically organized structure. A XML-based language enables creation of open source databases for storage, maintenance and d...

Research in genetics has facilitated the identification of highly penetrant genes responsible for a large number of diseases. In the oncology field, genetic counselling and gene testing are focused on the two most common syndromes in familial cancer: hereditary breast and ovarian cancer syndrome (HBOC) and hereditary non-polyposis colorectal cancer or Lynch syndrome (LS). The objective of this ...