The gene for Huntington's disease (HD) was discovered in 1993, after an international collaborative initiative that led researchers to remote regions of South America. It was the most remarkable milestone, since George Huntington's initial description. Through the phenomenological discussions led by Jean-Martin Charcot and Willian Osler, and finally Americo Negrette's reports, which served as the inspiration for the Venezuela Project led by Nancy Wexler, the journey toward discovering the Huntington's disease (HD) gene was marked by substantial efforts.
View Article and Find Full Text PDFBackground: Spinocerebellar ataxia (SCA) presents different rates of functional decline depending on the type of ataxia.
Objective: To compare the progression of disability, imbalance and severity of ataxia in patients with the three most common types of SCA in southern Brazil.
Methods: 126 patients (31-SCA2, 58-SCA3 and 37-SCA10) were stratified into four groups based on disease duration.
The year of 2021 marks 90 year since the death of the neuroscientist Constantin von Economo, whose research in various areas was extremely relevant for the field of neurology. He described lethargic epidemic encephalitis, published an atlas of the cytoarchitecture of the human cerebral cortex, and conducted multiple studies in neuroanatomy, neurophysiology, and clinical neurology. Von Economo's genius extended into other nonmedical fields such as aeronautics, and he had renowned artistic skills.
View Article and Find Full Text PDFObjective: To describe the clinical characteristics of cutaneous adverse reactions and cross-sensitivity induced by antiseizure medications and compare the pattern of use of antiseizure medications in patients with epilepsy according to skin rash history.
Methods: We analysed patients with a history of skin rash presenting for up to 12 weeks after initiating antiseizure medication. The history of skin rash was verified by medical charts, interviews, and identification of skin lesions by patients based on illustrative images.
The authors describe the construction of a statue in honor of Professor Charcot, the father of modern neurology, in Paris in 1898, 5 years after his death. The Nazi invaders destroyed the statue, which was erected near the entrance to the Salpêtrière hospital with the support of his disciples and the international neurological community, in 1942 during World War II. An international campaign is now needed to rebuild the statue of this great neurologist.
View Article and Find Full Text PDFThe authors present a historical review of the seminal contributions of Professor N. H. Wadia (1925-2016) to neurology, in particular, the first description of spinocerebellar ataxia type 2.
View Article and Find Full Text PDFThe authors present a brief historical review of the most important contributions by Professor Elio Lugaresi, of the University of Bologna, Italy, to neurology and sleep disorders.
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