Rare Neurologic Diseases and Neurological Sciences: a report for the celebration of the 2020 Rare Diseases Day
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EDITORIAL
Rare Neurologic Diseases and Neurological Sciences: a report for the celebration of the 2020 Rare Diseases Day Antonio Federico 1
# Fondazione Società Italiana di Neurologia 2020
Introduction In the recent years, a great interest has been given to rare diseases, that are over 6000 different pathological conditions, affecting more than 300 million people around the world, more than 70% with genetic pathogenesis, and more than 50% with neurologic or muscle involvement. For years, research projects have been developed, discovering many genes related to the pathogenesis of many disorders and also new therapies. In the same time, in order to promote the better knowledge of these conditions, many actions have been developed, able to improve the information between doctors, families, and also institutions. One of these is the Rare Diseases Day, that is celebrating every year, on the last day of February (this year on the February 29th). Rare Disease Day is a great example of how progress continues to be made in this area. Beginning in 2008, which events only in 18 countries, Rare Disease Day has taken place every year with events being held in over 100 countries in 2019. Neurological Sciences, as done on the past year, participates to the Rare Diseases Day activities promoting the knowledge and the attention on rare neurologic disorders, reporting the main articles published on the journal in 2019 related to Rare Neurologic Diseases. We hope that this action may help our readers to be more familiar with rare neurologic diseases, facilitating their early diagnosis and promoting new researches on therapies. In 2019, our journal published 61 articles related to rare neurologic diseases out of a total of more than 450 articles, the majority (34) referring the clinical aspects of many different diseases, 10 amyotrophic lateral sclerosis, 12 new genetic
* Antonio Federico [email protected] 1
Department Medicine, Surgery an Neurosciences, Medical School, University of Siena, Viale Bracci 2, 53100 Siena, Italy
mutations, 8 pathogenetic aspects, 5 recommendations, guidelines, and reviews, and 2 therapies.
Clinical aspects of Rare Neurologic Diseases The heterogeneity of brain FDG-PET metabolic patterns in patients with C9orf72 mutation was described by Castelnovo et al. [1]. A neurobehavioral phenotype of familial Creutzfeldt–Jakob disease lead to Giovagnoli et al. [2] to discuss an impairment of theory of mind; a fronto-temporal type of dementia was reported associated to Langerhans cell histiocytosis by Garg et al. [3]. Body composition analysis in patients with myotonic dystrophy types 1 and 2 was described by Peric et al. [4]; a case report of cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies was reported by Villa et al. [5]. Late-onset and fast progressive neuropathy and cardiomyopathy was associated to Val32Ala transthyretin gene mutation (Cazzato et al.) [6]. A rare cause of Horner’s syndrome, cervicothoracic spinal root cysts, was described by Karti et al. [7]. Clinical,
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