A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.
Bottom Line: 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.This report highlights the difficulties in diagnosing HDLS and discusses the indications for testing for mutations in the CSF1R gene.
Affiliation: Dementia Research Centre, Department of Neurodegenerative Disease, University College London, Institute of Neurology, Queen Square, London, UK.Show MeSH
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Mentions: DRC155 is a family from the UK with an autosomal dominant history of dementia (Fig. 1 — family tree). Five of seven siblings were affected. Both parents were said to be cognitively normal prior to their deaths at age 61 years and 71 years, however their young age of death may have concealed a diagnosis of dementia.
Affiliation: Dementia Research Centre, Department of Neurodegenerative Disease, University College London, Institute of Neurology, Queen Square, London, UK.