Objective: Spinocerebellar ataxia type 2 (SCA2) is a rare, inherited neurodegenerative disease characterised by progressive deterioration in both motor coordination and cognitive function. Atrophy of the cerebellum, brainstem, and spinal cord are core features of SCA2, however the evolution and pattern of whole-brain atrophy in SCA2 remain unclear. We undertook a multi-site, structural magnetic resonance imaging (MRI) study to comprehensively characterize the neurodegeneration profile of SCA2.
View Article and Find Full Text PDFThe establishment of Russian neurology in the late 19th century was significantly shaped by the neurology department at La Salpêtrière Hospital under Professor Jean-Martin Charcot's leadership. A group of Russian neurologists, guided by Professor Kozhevnikov and featuring his disciples such as Korsakov, Minor, Darkshevich, and Bekhterev, had the privilege of being mentored by Professor Charcot. Subsequently, they played pivotal roles in founding various neurology services in Russia, greatly influenced by the teachings and insights they acquired under Charcot's tutelage.
View Article and Find Full Text PDFThis paper provides a historical overview of Professor Fulgence Raymond, Charcot's eldest pupil, who was chosen as his successor. It explores Raymond's origins as a veterinary surgeon, his evolution as a neurologist under Charcot's mentorship, and his tenure as the professor's successor at the La Salpêtrière Hospital in Paris, France, from 1894 to 1910.
View Article and Find Full Text PDFwas an early designation used for cervical dystonia. The origin of this name is attributed to French physician and writer François Rabelais in the mid-sixteenth century. This early description of torticollis in the book was an inspiration for the understanding of cervical dystonia.
View Article and Find Full Text PDFBackground: Meige's syndrome is a type of facial dystonia characterized by the simultaneous occurrence of blepharospasm and oromandibular dystonia. Although botulinum toxin type A (OBTA) injections are the standard treatment, evidence of their effectiveness and safety in this scenario is still lacking.
Objective: Our research aimed to evaluate the improvement and occurrence of side effects following injections of onabotulinum toxin type A (OBTA) in patients with Meige's syndrome.
Background: Spinal cord damage is a feature of many spinocerebellar ataxias (SCAs), but well-powered in vivo studies are lacking and links with disease severity and progression remain unclear. Here we characterise cervical spinal cord morphometric abnormalities in SCA1, SCA2, SCA3 and SCA6 using a large multisite MRI dataset.
Methods: Upper spinal cord (vertebrae C1-C4) cross-sectional area (CSA) and eccentricity (flattening) were assessed using MRI data from nine sites within the ENIGMA-Ataxia consortium, including 364 people with ataxic SCA, 56 individuals with preataxic SCA and 394 nonataxic controls.
Background: Down syndrome is the most commonly genetic cause of developmental delay and intellectual disability, affecting 1:700 live births. It is associated with heart disease and recurrent infections, among other complications that greatly impair the patient's quality of life.
Objective: To evaluate the major factors associated with quality of life in a cohort of patients with Down syndrome.
Arq Neuropsiquiatr
December 2023
Jean-Martin Charcot, widely regarded as a leading founder of modern neurology, made substantial contributions to the understanding and characterization of numerous medical conditions. His initial focus was on internal medicine, later expanding to include neuropathology, general neurology, and eventually emerging fields such as neuropsychology and neuropsychiatry. Furthermore, Charcot's intellectual pursuits extended beyond medicine, encompassing research in art history, medical iconography, sociology, religious studies, and the arts, solidifying his status as a polymath.
View Article and Find Full Text PDFRita Levi-Montalcini was a researcher in the field of neuroscience, Italian and Jewish in origin, who discovered the nerve growth factor and rightfully earned the 1986 Nobel Prize in Physiology or Medicine, alongside her collaborator Stanley Cohen. She was persecuted by the fascist dictatorship of Benito Mussolini and experienced gender and religious discrimination throughout her entire life. Despite these obstacles, she carried out her activities with diligence and grace, becoming a role model in the field.
View Article and Find Full Text PDFProfessor Jean-Martin Charcot was the founder of clinical neurology and one of the prominent researchers in the field of hysteria in the 19 century. His book is a representation of hysterical symptoms in religion and religious art. This paper aims to discuss Charcot's descriptions of hysteria in religion and his "hysterical saints".
View Article and Find Full Text PDFTo celebrate the 400 anniversary of the birth of Thomas Willis, his main contributions to the development of neurosciences, in particular neurology, are presented. Willis coined the term neurology and contributed significantly to the field of neuroanatomy, with the description of the arterial circle-located at the base of the brain-, which bears his name. He also described the striatum and cranial nerves.
View Article and Find Full Text PDFAugusta Dejerine-Klumpke was ahead of her time, with extensive contributions to the field of neuroanatomy and neurology, achieving international recognition. Despite her great contribution to world neurology, she was expelled from the Salpêtrière hospital in 1917, due to the rivalry and mutual hatred between Pierre Marie and his rival Jules Déjerine, her husband and collaborator.
View Article and Find Full Text PDFLittle is known about access of rare disease carriers to health care. To increase this knowledge, the Pan American Hereditary Ataxia Network (PAHAN) conducted an exploratory survey about care for hereditary ataxias in American continents and the Caribbean. A questionnaire was sent to health professionals about the hereditary ataxias identified; access to care; and local teaching and research.
View Article and Find Full Text PDFParkinsonism Relat Disord
April 2022
More frequent use of next-generation sequencing led to a paradigm shift in assessing heredodegenerative diseases. This is particularly notable in progressive myoclonus epilepsy (PME) and progressive myoclonus ataxia (PMA) where a group of disorders linked to novel genetic mutations has now been added to these phenotypical realms. Despite the historical value of Ramsay Hunt's contribution defining the syndrome later known as PMA, recent genetic developments have made this eponym obsolete and a new definition and classification of PMA and PME seem necessary.
View Article and Find Full Text PDFThe syndromic group of hereditary spastic paraplegias has a heterogeneous clinical profile and a broad differential diagnosis, including neurometabolic disorders that are potentially treatable. This group includes 5,10-methylenetetrahydrofolate reductase deficiency, cobalamin C deficiency disease, dopamine responsive dystonia, cerebrotendinous xanthomatosis, biotinidase deficiency, GLUT1 deficiency syndrome, delta-e-pyrroline-carboxylase-synthetase deficiency, hyperonithinemia-hyperammonemia-homocitrullinuria syndrome, arginase deficiency, multiple carboxylase deficiency, and X-linked adrenoleukodystrophy. This review describes these diseases in detail, highlighting the importance of early diagnosis and effective treatment aiming at preserving functionality and quality of life in these patients.
View Article and Find Full Text PDFJean-Martin Charcot was one of the most influential physicians of the nineteenth century and is now rightly considered the father of Neurology. The aim of this paper was to review and describe Charcot's close relationships to Britain and the influence of this particular affinity on his career.
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