Hippocampal sclerosis and mesial temporal lobe epilepsy in chorea-acanthocytosis: A case with clinical, pathologic, and genetic evaluation.

Hippocampal sclerosis and mesial temporal lobe epilepsy in chorea-acanthocytosis: A case with clinical, pathologic, and genetic evaluation.

Neuropathol Appl Neurobiol. 2017 Apr 11;:

Authors: Mente K, Kim SA, Grunseich C, Hefti MM, Crary JF, Danek A, Karp BI, Walker RH

Abstract
Chorea-acanthocytosis (ChAc) is an autosomal recessive neurodegenerative disease associated with mutations in VPS13A that encodes the protein chorein. ChAc is characterized by progressive chorea, dystonia, and psychiatric symptoms, developing in young adulthood, often with acanthocytosis in peripheral blood. Tongue protrusion, or feeding dystonia, is common, as are seizures and neuropathy [1]. On neuropathology, there is basal ganglia atrophy, neuronal loss, and gliosis, especially in the caudate nucleus [2]. We report the case of a patient with ChAc with hippocampal sclerosis who had extensive longitudinal follow-up, including neuropathology and general autopsy. This article is protected by copyright. All rights reserved.

PMID: 28398599 [PubMed - as supplied by publisher]

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