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  

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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| Rare Neurological Diseases | Neuroimmunology  

A large study on 147 patients with antibody negative autoimmune encephalitis defines long term outcome and provides important clues on treatment…

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| Autonomic nervous system disorders | Rare Neurological Diseases  

Thermoregulatory abnormalities are known to occur in demyelinating disorders, yet they are poorly studied (Adamec et al 2018). While a few studies…

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| Neuroscience/ Translational neurology | Rare Neurological Diseases  

Arbab et al. (2023) showed for the first time the feasibility of genome editing as permanently restoring SMN protein levels in cellular and animal…

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| Rare Neurological Diseases  

A GAA repeat expansion in FGF14 appears to be an important and frequent cause of autosomal dominant late-onset cerebellar ataxia, further expanding…

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| Rare Neurological Diseases  

WGS can reliably assess the most common neurological disease-causing repeat expansions, further supporting its implementation in clinical practice

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| Rare Neurological Diseases  

The world has changed for patients and parents of children suffering from spinal muscular atrophy (SMA) type 1. Without treatment these children…

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| Rare Neurological Diseases  

SMA is a perfect example of rare neurological disease, and should be regarded as a prototype concerning the medical and social aspects of its…

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| Rare Neurological Diseases  

Highet B, Dieriks BV, Murray HC, Faull RLM and Curtis MA (2020)

Huntingtin Aggregates in the Olfactory Bulb in Huntington’s Disease. Front. Aging…

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| Rare Neurological Diseases  

Ataxin-1 regulates B cell function and the severity of autoimmune experimental encephalomyelitis.

www.pnas.org/cgi/doi/10.1073/pnas.2003798117 …

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| COVID-19 | Rare Neurological Diseases  

Rare neurological diseases are usually hereditary chronic disorders, affecting the central, peripheral nervous system and skeletal muscle, with…

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| Coma & Chronic Disorders of Consciousness | Rare Neurological Diseases  

Three patients with chronic disorders of consciousness showed behavioural and neuroimaging improvements after 30 days of treatment by apomorphine in…

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