PO183 Adult onset leucoencephlopathy and alps with atypical parkinsonism

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Abstract

Leukodystrophy is a diverse range of conditions that involve dysmeylination and demyelition. 10%–25% of adult onset leukodystrophy are related to mutations of the CSF1R gene. The clinical phenotype and MRI appearances are diverse and it can be easy to misdiagnose. We report a 53 year old diabetic, hypertensive patient with progressive postural imbalance, gait disorder and cognitive impairment. His mother and one sibling were given a diagnosis of ‘Progressive Supranuclear Palsy’ aged 70 and 40 years respectively and both deteriorated rapidly. His limbs were spastic with dystonic posturing of left hand. There was apraxia of left arm and shuffling gait. Addenbrooke’s was 20/100 with poor performance on fluency, visuospatial and attention functions. His eye movements were normal. There was no response to levodopa. MRI head revealed generalised cerebral atrophy, moderate subcortical asymmetrical periventricular T2 high signal changes with foci of restricted diffusion noted in the frontal lobe. However, because of progressive course and family history a dementia panel was done and heterozygous pathogenic variant in CSF1R gene was identified. ALSP can have clinical features suggestive of atypical parkinsonism; recognition of this along with the characteristic MRI findings will allow earlier diagnosis and the avoidance of unnecessary investigations and treatment.

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