An adult-onset leukoencephalopathy with axonal spheroids and pigmented glia accompanied by brain calcifications
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Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), also known as hereditary diffuse leukoencephalopathy with spheroids, is a rare inherited neurodegenerative disorder caused by mutations in the CSF1R gene [1, 2]. ALSP is clinically characterized by cognitive, behavioral, and language impairment, movement disorders, pyramidal signs, seizures, and ataxia . Brain magnetic resonance imaging (MRI) is a useful diagnostic tool that shows bilateral and predominantly frontal lobe generalized brain atrophy and white matter signal changes ; brain computed tomography (CT) has provided less useful information . During a recent international symposium on ALSP held in Tokyo, Japan, in February 2013, Japanese researchers demonstrated the presence of brain calcification in several ALSP cases . To confirm this observation, we reviewed the available clinical charts from our collection of ALSP and identified a single familial case with brain...
KeywordsBrain Magnetic Resonance Imaging Brain Atrophy Brain Compute Tomography Inversion Recovery Image Ankle Clonus
We would like to thank all those who have contributed to our research, particularly the patients and families who donated DNA samples for this work. We also would like to thank Ann S. Martin for her assistance in genealogical research and administrative efforts, and Kelly E. Viola for editorial assistance.
Conflicts of interest
SF, DFB, and MCB have no conflicts of interest. CS is supported by Anna Lisa och Bror Björnsson foundation for neurological research 2013/2014. RR is supported by NIH/NINDS P50 NS072187. ZKW is partially supported by the NIH/NINDS P50 NS072187, Mayo Clinic Center for Regenerative Medicine, and the gift from Carl Edward Bolch, Jr., and Susan Bass Bolch.
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