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: This gentleman presented at the age of 54-years-old with a six year history of depression and anxiety. He had been working as a piano maker and over the previous few years had increasing difficulties with his work. Over a similar time period his mobility had become worse and he felt slow and unsteady whilst walking. More recently he developed problems with episodic memory over the previous year and difficulty speaking over the last six months. His wife felt that there had been a recent change in his personality with apathy, irritability and socially inappropriate behaviour. On examination he scored 26/30 on MMSE and was noted to be bradyphrenic. Cranial nerve territory examination was normal but in the limbs he had increased tone throughout with brisk reflexes, although normal power. His gait was broad-based and slow. Neuropsychometry revealed severely impaired executive function with some impairment of verbal recognition memory as well. MRI brain (Fig. 2) showed white matter change and atrophy which was widespread but with a frontal predominance. There was also involvement of the corpus callosum with associated atrophy.
Affiliation: Dementia Research Centre, Department of Neurodegenerative Disease, University College London, Institute of Neurology, Queen Square, London, UK.