Article
Combined Dendritic and Axonal Deterioration Are Responsible for Motoneuronopathy in Patient-Derived Neuronal Cell Models of Chorea-Acanthocytosis.
International journal of molecular sciences - 5 Mar 2020
Glaß Hannes, Neumann Patrick, Pal Arun, Reinhardt Peter, Storch Alexander, Sterneckert Jared, Hermann Andreas
Abstract excerpt
Chorea acanthocytosis (ChAc), an ultra-rare devastating neurodegenerative disease, is caused by mutations in the VPS13A gene, which encodes for the protein chorein. Affected patients suffer from chorea, orofacial dyskinesia, epilepsy, parkinsonism as well as peripheral neuropathy. Although medium spinal neurons of the striatum are mainly affected, other regions are impaired as well over the course of the disease....
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