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Brown-Vialetto-Van-Laere syndrome (BVVL), is a rare, progressive, inherited neurodegenerative disorder that most often manifests in infancy or early childhood.Since 2010, mutations in the SLC52A1, SLC52A2, or SLC52A3 genes, which encode riboflavin transporters, have been identified as the cause of BVVL.
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.
Ewart's sign is a set of findings on physical examination in people with large collections of fluid around their heart (pericardial effusions). [2]Dullness to percussion (described historically as "woody" in quality), egophony, and bronchial breath sounds may be appreciated at the inferior angle of the left scapula when the effusion is large enough to compress the left lower lobe of the lung ...
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.
Brain atrophy from vascular dementia: Specialty: Psychiatry, neurology Symptoms: Cognitive impairment, short-term memory loss [3] Complications: Heart disease, loss of ability to care for self and interact, pneumonia [4] Causes: Conditions that impair blood vessels in the brain and therefore interfere with oxygen delivery to the brain [3] Risk ...
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]
Diagnosis of primary CNS vasculitis may be made with brain imaging and biopsy of the affected blood vessel. The most definitive diagnostic modality is a biopsy of the affected blood vessel however brain biopsy has a low yield, with up to 30-50% of biopsies being normal in suspected cases. [5]
In 1825, Bouchet and Cazauvieilh described palpable firmness and atrophy of the uncus and medial temporal lobe of brains from epileptic and non-epileptic individuals. [4]: 565 In 1880, Wilhelm Sommer investigated 90 brains and described the classical Ammon's horn sclerosis pattern, severe neuronal cell loss in hippocampal subfield cornum Ammonis 1 (CA1) and some neuronal cell loss in ...