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Canavan disease was first described in 1931 by Myrtelle Canavan. [17] In 1931, she co-wrote a paper discussing the case of a child who had died at 16 months old and whose brain had a spongy white section. Canavan was the first to identify this degenerative disorder of the central nervous system, which was later named Canavan disease. [18]
The first case of spongy degeneration of the CNS was reported in 1928 by Globus and Strauss, [42] who designated the case as Schilder's disease, a term for diffuse myelinoclastic sclerosis. [43] [44] [45] In 1931, Canavan reported a case where the megalencephaly of brain degeneration is different from that caused by a tumour. [46]
Myrtelle May Moore Canavan [1] (June 24, 1879 – August 4, 1953) was an American physician and medical researcher. She was one of the first female pathologists and is best known for publishing a description of Canavan disease in 1931.
Whether they constitute a separate disease is still an open subject. Anyway, even this pubertal MS could be more than one disease, because early-onset and late-onset have different demyelination patterns. [150] Pediatric MS patients tend to have active inflammatory disease course with a tendency to have brainstem / cerebellar presentations at ...
A. Schematic initial progression of Lewy body deposits in the first stages of Parkinson's Disease, as proposed by Braak and colleagues. B. Localization of the area of significant brain volume reduction in initial PD compared with a group of participants without the disease in a neuroimaging study which concluded that brain stem damage may be the first identifiable stage of PD neuropathology. [1]
Progressive disease or progressive illness is a disease or physical ailment whose course in most cases is the worsening, growth, or spread of the disease. This may happen until death, serious debility, or organ failure occurs. [1] Some progressive diseases can be halted and reversed by treatment (surgical, dietary, or lifestyle interventions).
In 2020, researchers at The University of Texas Health Science Center at Houston concluded that protein misfolding cyclic amplification could be used to distinguish between two progressive neurodegenerative diseases, Parkinson's disease and multiple system atrophy, being the first process to give an objective diagnosis of Multiple System ...
A 4 base pair insertion in exon 11 is observed in 80% of Tay-Sachs disease presence in the Ashkenazi Jewish population. The frameshift mutations lead to an early stop codon which is known to play a role in the disease in infants. Delayed onset disease appears to be caused by 4 different mutations, one being a 3 base pair deletion. [24]