Neuroacanthocytosis Syndromes


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Neuroacanthocytosis

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Neuroacanthocytosis syndromes.

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Password Changed Successfully Your password has been changed. Returning user. Request Username Can't sign in? Forgot your username? Enter your email address below and we will send you your username. Claudia Volger Leipzig, Germany , mother of two brothers suffering from ChAc, presented an inspiring patient family story which was followed by an overview of the current state of knowledge of ChAc and other NA syndromes by Dr.

Adrian Danek Munich, Germany.

Andreas Hermann Dresden, Germany , chair of the meeting, provided information on recent developments in basic science and translational research in this field. Patients and caregivers had the opportunity to address questions and concerns to these two experts along with Drs. Ruth H. Jung Zurich, Switzerland. Adrian Danek und Dr.

Furthermore, leading experts Drs.

Supporting Information

Even though the different VPS13 proteins cause distinct neurodegenerative diseases in humans, namely VPS13B Cohen syndrome, VPS13C diffuse Lewy body pathology, VPS13D ataxia and spastic paraplegia phenotypes or childhood movement disorders, the underlying mechanisms clearly show an overlap concentrating on neurodegeneration, problems with autophagy, mitochondrial dysfunction and vesicle trafficking. The second day focused on function and dysfunction of the VPS13A gene and its respective protein, chorein, in different models of the disease; including yeast Drs.

Ody Sibon Groningen, Netherlands , mouse Drs. Following that, the conference thoroughly discussed two cellular pathways that seem centrally disturbed in ChAc and which may imply future treatment approaches.

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Psychiatric Manifestations of Neuroacanthocytosis Syndromes - MDS Abstracts

The last session of the day was dedicated to clinical issues. Christian Beste Dresden, Germany provided insights in his work on cognitive function in neurodegenerative diseases and how this could be measured in a more standardized way. The take home message was that up to now no causal therapy is available, and all treatment strategies still concentrate on symptomatic relief. The data on deep brain stimulation DBS isare still vague, with some hints that DBS might be beneficial against choreatic movements, but a decision for DBS still warrants intensive discussion between the single patient and the experts in the field.

Ginger Irvine NA Advocacy closed the session with her talk on patient-centered care by giving examples of daily life with her daughter Alex. On the third and last day, the scientists discussed possible future treatment approaches focusing on the two main disease pathways introduced the day before.


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Andreas Hermann.

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