We report a family with a novel CSF1R mutation causing hereditary diffuse leucoencephalopathy with axonal spheroids. Family members presented with neuropsychiatric and behavioural symptoms, with subsequent development of motor symptoms and gait disturbance. MRI brain showed extensive white matter change with a frontal predominance and associated atrophy in two members of the family. Genetic testing revealed a novel mutation c.2342C>T (p.A781V) in the CSF1R gene in two brothers of the family. This report highlights the difficulties in diagnosing HDLS and discusses the indications for testing for mutations in the CSF1R gene.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3750216 | PMC |
| http://dx.doi.org/10.1016/j.jns.2013.06.007 | DOI Listing |
Publication Analysis
Top Keywords
csf1r gene
12
hereditary diffuse
8
diffuse leucoencephalopathy
8
leucoencephalopathy axonal
8
axonal spheroids
8
novel a781v
4
a781v mutation
4
csf1r
4
mutation csf1r
4
gene hereditary
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!