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GLUT1 deficiency syndrome, also known as GLUT1-DS, De Vivo disease or Glucose transporter type 1 deficiency syndrome, is an autosomal dominant genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier. [1]
The average lifespan after the onset of symptoms in patients with MSA is 6–10 years. [3] Approximately 60% of patients require a wheelchair within five years of onset of the motor symptoms, and few patients survive beyond 12 years. [3] The disease progresses without remission at a variable rate.
Lissencephaly (/ ˌ l ɪ s. ɛ n ˈ s ɛ f. ə l. i /, meaning 'smooth brain') [1] is a set of rare brain disorders whereby the whole or parts of the surface of the brain appear smooth. [2] It is caused by defective neuronal migration during the 12th to 24th weeks of gestation, resulting in a lack of development of brain folds and grooves . [3]
The term post-infectious fatigue syndrome was initially proposed as a subset of "chronic fatigue syndrome" with a documented triggering infection, but might also be used as a synonym of ME/CFS or as a broader set of fatigue conditions after infection. [26] Many individuals with ME/CFS object to the term chronic fatigue syndrome. They consider ...
The progression of symptoms, starting with type 1 diabetes and subsequent vision loss within the first decade of life, is a critical diagnostic clue. [23] Imaging studies are essential for understanding the extent of brain and optic nerve damage in Wolfram syndrome.
Cerebral atrophy is a common feature of many of the diseases that affect the brain. [1] Atrophy of any tissue means a decrement in the size of the cell, which can be due to progressive loss of cytoplasmic proteins.
Wernicke encephalopathy (WE), also Wernicke's encephalopathy, [1] or wet brain is the presence of neurological symptoms caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B 1). [2]
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.