Skip to main content

Posts

Showing posts from February, 2020

Huntington's Disease

Huntington's Disease (HD) is a neurological disorder that impairs voluntary movement and cognition. Adult onset of the disease is usually in the 30s and 40s, but HD can occur in juveniles. Juvenile HD patients usually die 10 to 15 years after their symptoms appear. Huntington's Disease causes changes in mood, impaired cognition, and motor symptoms (such as chorea , small involuntary movements). Huntington's disease affects the basal ganglia and the cerebral cortex. Huntington's disease can be traced to genetics. It is caused by a dominant inheritance for a mutation of the  huntingtin (HTT) gene  located on chromosome 4, which codes for the huntingtin protein . The mutation involves an abnormal amount of repeats for a three-part snippet of DNA. Normally, people have 10 to 35 repeats of the sequence CAG (cytosine, adenine, guanine). HD patients, however, can have 36 to 120 of these repeats, known as a trinucleotide repeat . Potential HD biomarkers

Epliepsy

Epilepsy is a condition characterized by seizures that result from irregular activity in brain cells. These seizures can last for five minutes or more. Most people associate seizures with collapsing, shaking, and losing consciousness. However, some seizures are milder and include staring spells or rapid blinking. Epileptic seizures are classified by their location in the brain.     Generalized seizures  affect both sides of the brain. They include: Absence or petit-mal   seizures cause rapid blinking or a few seconds of staring into space Tonic-clonic or grand-mal   seizures cause muscle spasms, loss of consciousness or suddenly crying out  Local or partial seizures  are localized to one area of the brain. They include Simple focal seizures  cause twitching or changes in sensation Complex focal seizures  can leave a person confused and unable to follow directions. There are also secondary generalized seizures , which begin as focal seizures and then spread to th