Study of Genetic Mutation CSF1R and EPM2A Genes in Patients with Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Syndrome, Iran

Authors:

Shahin A* and Jamali M

DOI: 10.23880/nnoaj-16000123

Volume 3, Issue 1

Abstract

In this study we have analyzed 100 people. 40 patients and 60 control group had Adult-onset Leukoencephalopathy with

Axonal Spheroids and Pigmented Glia Syndrome. The gene CSF1R (colony-stimulating factor 1 receptor) analyzed in

terms of genetic mutations made. In this study, people who have genetic mutations were targeted, with nervous

disorders, Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Syndrome. In fact, of all people

with Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Syndrome, 40 people had a genetic

mutation in the genes EPM2A and CSF1R. Any genetic mutations in the target genes control group did not show.

Keywords:

Genetic study; Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Syndrome;

Mutation CSF1R and EPM2A genes; Real Time PCR

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