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CDD is caused by pathogenic variants in the gene CDKL5. This gene provides instructions for making a protein ( cyclin-dependent kinase -like 5) that is essential for normal brain development and function. [ 4] The CDKL5 protein is widely expressed in the brain, predominantly in nerve cells ( neurons ), with roles in cell proliferation, neuronal ...
Posterior cortical atrophy ( PCA ), also called Benson's syndrome, is a rare form of dementia which is considered a visual variant or an atypical variant of Alzheimer's disease (AD). [ 1][ 2][ 3] The disease causes atrophy of the posterior part of the cerebral cortex, resulting in the progressive disruption of complex visual processing. [ 4]
Learning about the dementia stages can help caregivers track and monitor stage-related symptoms to identify a loved one’s brain-health status. The seven stages of dementia include: Stage 1: No ...
Neurology. Early-onset Alzheimer's disease ( EOAD ), also called younger-onset Alzheimer's disease ( YOAD ), [ 1] is Alzheimer's disease diagnosed before the age of 65. [ 2] It is an uncommon form of Alzheimer's, accounting for only 5–10% of all Alzheimer's cases. About 60% have a positive family history of Alzheimer's and 13% of them are ...
Corticobasal degeneration. Corticobasal degeneration ( CBD) is a rare neurodegenerative disease involving the cerebral cortex and the basal ganglia. [ 1] CBD symptoms typically begin in people from 50 to 70 years of age, and typical survival before death is eight years.
With increasing clinical focus on dementia, there is likewise increasing interest in pharmacology in the development of drugs to halt, or slow the progression of dementia-related illness such as Alzheimer's Disease. Therefore, early and accurate diagnosis of dementia and staging can be essential to proper clinical care.
Frequency. 904,000 (2015) [ 6] Deaths. 60,700 (2015) [ 7] Chronic lymphocytic leukemia ( CLL) is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell ). [ 2][ 8] Early on, there are typically no symptoms. [ 2] Later, non-painful lymph node swelling, feeling tired, fever, night sweats, or weight loss ...
Sanfilippo syndrome. Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare genetic disease that mainly affects the brain and spinal cord. It is caused by a problem with how the body breaks down certain large sugar molecules called glycosaminoglycans (also known as GAGs or mucopolysaccharides).