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Gerstmann–Sträussler–Scheinker syndrome (GSS) is an extremely rare, always fatal (due to it being caused by prions) neurodegenerative disease that affects patients from 20 to 60 years in age. It is exclusively heritable, and is found in only a few families all over the world. [1] It is, however, classified with the transmissible spongiform ...
1–3 per 1 million people. Pantothenate kinase-associated neurodegeneration (PKAN), formerly called Hallervorden–Spatz syndrome, [1] is a genetic degenerative disease of the brain that can lead to parkinsonism, dystonia, dementia, and ultimately death. Neurodegeneration in PKAN is accompanied by an excess of iron that progressively builds up ...
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.
Lissencephaly (/ ˌlɪs.ɛnˈsɛf.əl.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 (gyri) and grooves (sulci ...
The scientists investigating this experiment conclude these mutations may be infective agents for the disease. Lastly, the patients' behavioural, physical, and psychiatric symptoms are included on the data chart. [13]
BVVLS1 [1] Brown-Vialetto-Van-Laere syndrome (BVVL), sometimes known as Brown's syndrome, is a rare degenerative disorder often initially characterized by progressive sensorineural deafness. [2] The syndrome most often affects children, adolescents, and young adults. As knowledge of BVVL grows some adult patients have now been diagnosed.
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare neurodegenerative disorders caused by genetic mutations and characterised by progressive atrophy of various parts of the brain such as the cerebellum or brainstem (particularly the pons). [1] Where known, these disorders are inherited in an autosomal recessive fashion.
Frequency. 1 in 12,000 to 20,000 people [6] Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. [6] Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, and sleep ...