Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome.

Abstract:

:Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by neurological disorders and misshaped spiky red blood cells (acanthocytes) including Chorea-Acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington disease-like 2 (HDL 2), pantothenate kinase-associated neurodegeneration (PKAN), abeta- and hypobetalipoproteinemia and aceruloplasminemia. This clinically and genetically heterogeneous group of diseases shares main clinical features presenting most often as a hyperkinetic movement disorder. Even though these are long noted disease conditions, we still know only little on the underlying disease mechanisms. The current review focuses upon ChAc as the core entity of NA syndromes caused by mutations in the VPS13A gene. The support of patient organizations and the ERA-NET initiative yielded to different multidisciplinary efforts with significant progress on our understanding of ChAc. Disturbances in two pathways are currently considered to be significantly involved in the pathophysiology of ChAc, namely elevated Lyn kinase phosphorylation and decreased signaling via Phosphoinositide 3-kinase (PI3K). These recent developments may reveal potential drugable targets for causative therapies of ChAc.

journal_name

Eur J Med Genet

authors

Peikert K,Danek A,Hermann A

doi

10.1016/j.ejmg.2017.12.007

subject

Has Abstract

pub_date

2018-11-01 00:00:00

pages

699-705

issue

11

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(17)30591-8

journal_volume

61

pub_type

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