Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.

ABSTRACT:

Objective

To clarify the genetic, clinicopathologic, and neuroimaging characteristics of patients with hereditary diffuse leukoencephalopathy with spheroids (HDLS) with the colony stimulating factor 1 receptor (CSF-1R) mutation.

Methods

We performed molecular genetic analysis of CSF-1R in patients with HDLS. Detailed clinical and neuroimaging findings were retrospectively investigated. Five patients were examined neuropathologically.

Results

We found 6 different CSF-1R mutations in 7 index patients from unrelated Japanese families. The CSF-1R mutations included 3 novel mutations and 1 known missense mutation at evolutionarily conserved amino acids, and 1 novel splice-site mutation. We identified a novel frameshift mutation. Reverse transcription PCR analysis revealed

SUBMITTER: Konno T 

PROVIDER: S-EPMC3937843 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature