Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis.

ABSTRACT:

Background and purpose

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a devastating, hereditary white matter (WM) disorder with heterogeneous neuropsychiatric features. Colony stimulating factor 1 receptor (CSF1R) mutations were looked for in primary progressive multiple sclerosis (PPMS) patients and the clinical features of a family with a novel CSF1R mutation are reported.

Methods

CSF1R exons 12-22 in a cohort of 220 PPMS patients from the Swedish and Norwegian national multiple sclerosis registries were sequenced.

Results

One patient had a novel mutation, c.2562T>A; p.Asn854Lys, in the CSF1R gene. Her symptoms started at the age of 29 years with insidious onset of pyramidal weakness in the left leg. The cerebrospinal fluid examination showed four i

SUBMITTER: Sundal C 

PROVIDER: S-EPMC4289423 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature