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About 910 results

ALLMedicine™ Ataxia Center

Research & Reviews  355 results

Adaptation of the heart to Frataxin depletion: Evidence that integrated stress response...
https://doi.org/10.1093/hmg/ddab216
Human Molecular Genetics; Vásquez-Trincado C, Patel M et. al.

Sep 23rd, 2021 - Friedreich's ataxia (FRDA) is an inherited disorder caused by depletion of frataxin (FXN), a mitochondrial protein required for iron-sulfur cluster (ISC) biogenesis. Cardiac dysfunction is the main cause of death. Yet pathogenesis, and, more gener...

Age of onset modulates resting-state brain network dynamics in Friedreich Ataxia.
https://doi.org/10.1002/hbm.25621
Human Brain Mapping; Naeije G, Coquelet N et. al.

Sep 16th, 2021 - This magnetoencephalography (MEG) study addresses (i) how Friedreich ataxia (FRDA) affects the sub-second dynamics of resting-state brain networks, (ii) the main determinants of their dynamic alterations, and (iii) how these alterations are linked...

Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic S...
https://doi.org/10.1016/j.jns.2021.118062
Journal of the Neurological Sciences; Baviera-Muñoz R, Campins-Romeu M et. al.

Sep 10th, 2021 - Spastic paraplegia type 7 (SPG7) is one of the most common hereditary spastic paraplegias. SPG7 mutations most often lead to spastic paraparesis (HSP) and/or hereditary cerebellar ataxia (HCA), frequently with mixed phenotypes. We sought to clinic...

Safety and Outcomes of Dentate Nucleus Deep Brain Stimulation for Cerebellar Ataxia.
https://doi.org/10.1007/s12311-021-01326-8 10.1038/s41572-019-0074-3 10.1016/j.parkreldis.2020.09.001 10.1016/j.brs.2017.11.015 10.1002/ana.25464 10.3109/02688697.2015.1025697 10.1016/j.parkreldis.2019.10.029 10.1212/WNL.0000000000002204 10.3171/2018.11.JNS182180 10.1002/mdc3.12876 10.1016/S1474-4422(15)00201-X 10.1016/j.parkreldis.2016.03.005
Cerebellum (London, England); Cury RG, França C et. al.

Sep 5th, 2021 - Cerebellar symptoms remain orphan of treatment options despite being prevalent and incapacitating. Investigate whether dentate nucleus deep brain stimulation (DN DBS) is safe and leads to improvements in cerebellar symptoms when compared to sham s...

Exploring the clinical meaningfulness of the Scale for the Assessment and Rating of Ata...
https://doi.org/10.1016/j.parkreldis.2021.08.014
Parkinsonism & Related Disorders; Maas RPPWM, van de Warrenburg BPC

Sep 4th, 2021 - The Scale for the Assessment and Rating of Ataxia (SARA) is commonly used as the primary outcome measure in therapeutic trials. Driven by spontaneous comments from ataxia patients participating in a trial, we aimed to examine the clinical meaningf...

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Guidelines  2 results

Management of Patients with Cerebellar Ataxia During the COVID-19 Pandemic: Current Con...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7220536
Cerebellum (London, England); Manto M, Dupre N et. al.

May 15th, 2020 - The current worldwide severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic that causes coronavirus disease 2019 (COVID-19) has brought some medical systems to the brink of collapse. This crisis is also negatively impacting the car...

Diagnostic Criteria for Primary Autoimmune Cerebellar Ataxia-Guidelines from an Interna...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7351847
Cerebellum (London, England); Hadjivassiliou M, Graus F et. al.

Apr 25th, 2020 - Aside from well-characterized immune-mediated ataxias with a clear trigger and/or association with specific neuronal antibodies, a large number of idiopathic ataxias are suspected to be immune mediated but remain undiagnosed due to lack of diagnos...

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News  5 results

A 78-Year-Old Man Unable to Speak or Swallow
https://reference.staging.medscape.com/viewarticle/843818_4

Jan 10th, 2018 - The acute onset of dysphagia and anarthria should be differentiated from a lateral medullary syndrome (Wallenberg syndrome) due to vertebral artery occlusion or to posterior inferior cerebellar artery occlusion. The ipsilateral signs of a lateral ...

Huntington's Linked to Reduced Cancer Risk
https://www.medscape.com/viewarticle/762074

Apr 13th, 2012 - April 13, 2012 — Patients with Huntington's disease (HD) or other polyglutamine (polyQ) diseases appear to have a reduced risk for development of cancer, results of a Swedish population-based study suggest. Researchers found a significantly and co...

Huntington's Linked to Reduced Cancer Risk
https://www.staging.medscape.com/viewarticle/762074

Apr 13th, 2012 - April 13, 2012 — Patients with Huntington's disease (HD) or other polyglutamine (polyQ) diseases appear to have a reduced risk for development of cancer, results of a Swedish population-based study suggest. Researchers found a significantly and co...

Cardiac Dysfunction Causes Majority of Deaths in Friedreich's Ataxia
https://www.mdedge.com/familymedicine/article/36631/neurology/cardiac-dysfunction-causes-majority-deaths-friedreichs-ataxia
Internal Medicine News; Sharon Worcester

Jul 18th, 2011 - Cardiac dysfunction remains the most common cause of death in patients with Friedreich’s ataxia, according to the findings of a retrospective study. The majority (59%) of 61 deceased patients studied died as a result of cardiac dysfunction, most o.

Celiac Disease Can Have Neurologic Presentation : Patients who have gluten ataxia improve or stabilize within a year of starting a strict gluten-free diet.
https://www.mdedge.com/internalmedicine/article/13888/gastroenterology/celiac-disease-can-have-neurologic-presentation
Kate Johnson

NEW YORK — Neurologic dysfunction may be the sole presenting symptom of celiac disease, according to Dr. Marios Hadjivassiliou, a neurologist at the Royal Hallamshire Hospital in Sheffield, England.

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Patient Education  2 results see all →