Hereditary diffuse leukoencephalopathy with spheroids

What causes hereditary diffuse leukoencephalopathy with spheroids (HDLS)?

HDLS is caused by mutations in the CSF1R gene. This gene provides instructions for making a protein called colony stimulating factor 1 receptor (CSF-1 receptor), which is found in the outer membrane of certain types of cells. The CSF-1 receptor triggers signaling pathways that control many important cellular processes, such as cell growth and division (proliferation) and maturation of the cell to take on defined functions (differentiation). Mutations in the CSF1R gene lead to a altered CSF-1 receptor protein which is unable to stimulate cell signaling pathways. Exactly how these gene mutations cause the signs and symptoms of HDLS is unknown.

Last updated on 05-01-20

How is hereditary diffuse leukoencephalopathy with spheroids (HDLS) inherited?

HDLS is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Last updated on 05-01-20

Name: United Leukodystrophy Foundation (ULF) 224 North Second Street Suite 2
DeKalb, IL, 60115 , United States
Phone: 815-748-3211 Toll Free: 800-728-5483 Fax : 815-748-0844 Email: office@ulf.org Url: http://www.ulf.org/
Name: Alex The Leukodystrophy Charity Alex TLC 45 Peckham High Street
London, SE15 5EB, United Kingdom
Phone: 020 7701 4388 Email: info@alextlc.org Url: https://www.alextlc.org
Name: European Association against Leukodystrophy ELA 2, rue Mi-les-Vignes BP 61024 54521
Laxou Cedex
France
Email: http://ela-asso.com/en/contact-2/ Url: http://ela-asso.com/en/

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