Neurology Updates

Neurology Updates

Here you will find regular scientific news from our Scientific Panels. We cover all areas of neurology, including rare diseases. The most recent news are displayed below. You will find all news of different areas sorted into the subsections of the respective scientific panel. Enjoy reading!

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| Neurogenetics | Rare Neurological Diseases  

Advancements in solving the hereditability of rare neurological disorders: deep intronic expansions in FGF14-ataxia

Deep intronic GAA-expansions in the FGF14 gene have been recently identified as a common cause of late onset cerebellar ataxia, a disease entity that…

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Created by Elisabetta Indelicato

| COVID-19 | Neurogenetics  

EAN Neurogenetics Scientific Panel: COVID-19 expert statement

To our knowledge, there is currently no evidence on how and if Corona Virus Disease 2019 (COVID-19) affects people with rare neurological diseases,…

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Created by Michelangelo Mancuso, Sylvia Boesch, Henry Houlden, Maria Judit Molnar, Alessandro Filla

| Neurogenetics  

Expanding the expansions in hereditary ataxias

A recent paper from Cortese et al (2019) reported that a new intronic expansion may be a relevant cause of late-onset ataxia.

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Created by Alessandro Filla, MD; Department of Neurological and Reproductive Sciences and Odontostomatology, Federico II University; Naples, Italy, Michelangelo Mancuso, MD, Department of Experimental and Clinical Medicine, Neurological Institute

| Neurogenetics  

DNA methylation editing tools: a promising approach in Fragile X syndrome and other neurodegenerative diseases.

DNA methylation editing of the FMR1 gene rescue Fragile X syndrome neurons.

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Created by Alessandro Filla, MD; Federico II University, Naples-I Michelangelo Mancuso, MD; Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara, Pisa-I

| Neurogenetics  

Next Generation Sequencing: Sweet and Lowdown

McNeill and colleagues describe a patient suffering from leukoencephalopathy, brain calcifications and cysts (LCC).

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Created by Dr. Ettore Salsano – Fondazione IRCCS Istituto Neurologico C. Besta – via Celoria 11 – 20133 Milano - ITALY