Alzheimer's - Dementia, Author Interviews, JAMA, Neurological Disorders / 20.10.2016
At Least Two Genetic Causes For Early Onset Dementia of Leukoencephalopathy
MedicalResearch.com Interview with:
Dr David Lynch MB, MRCPI
Leonard Wolfson Clinical Fellow
UCL Institute of Neurology
Queen Square, London
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: In 2011 it was discovered that mutations in a gene called CSF1R cause a rare syndrome of early onset dementia often accompanied by movement disorders, spasticity and seizures, which is named adult onset leukoencephalopathy with axonal spheroids (ALSP). The hallmarks of ALSP are a characteristic appearance on MRI imaging and findings in brain pathological specimens - axonal swellings or 'spheroids'. We manage a multidisciplinary group with expertise in leukoencephalopathies and have previously identified patients with mutations in CSF1R. However, we also found patients with a syndrome typical of ALSP who did not carry mutations in CSF1R.
In this study, we showed that some of these patients carry recessive mutations in a different gene, AARS2. This included a patient with characteristic axonal spheroids in brain tissue and typical ALSP clinical and imaging features.
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