Abnormal red cell structure and function in neuroacanthocytosis.

ABSTRACT:

Background

Panthothenate kinase-associated neurodegeneration (PKAN) belongs to a group of hereditary neurodegenerative disorders known as neuroacanthocytosis (NA). This genetically heterogeneous group of diseases is characterized by degeneration of neurons in the basal ganglia and by the presence of deformed red blood cells with thorny protrusions, acanthocytes, in the circulation.

Objective

The goal of our study is to elucidate the molecular mechanisms underlying this aberrant red cell morphology and the corresponding functional consequences. This could shed light on the etiology of the neurodegeneration.

Methods

We performed a qualitative and semi-quantitative morphological, immunofluorescent, biochemical and functional analysis of the red cells of several patients

SUBMITTER: Cluitmans JC 

PROVIDER: S-EPMC4416783 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature