A young-onset frontal dementia with dramatic calcifications due to a novel CSF1R mutation.
Neuroimaging and genomic analysis greatly aid in the identification of young-onset dementia antemortem. We present the case of a 33-year-old female with a 2-year rapid decline to dementia and immobility marked by personality change, executive deficits including compulsions, attention deficit, apraxia, Parkinsonism, and pyramidal signs. She had unique and dramatic calcifications and confluent white matter changes on imaging and was found to have a novel mutation in the colony stimulating factor 1 receptor gene causing adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). Here, we review ALSP and briefly discuss differential diagnoses.
a Department of Neurology , Case Western Reserve University Hospitals , Beachwood , OH , USA.
Ethan
E
Gore
b Department of Neurology , University of South Alabama , Mobile , AL , USA.
Andrew
A
Manley
b Department of Neurology , University of South Alabama , Mobile , AL , USA.
Daniel
D
Dees
a Department of Neurology , Case Western Reserve University Hospitals , Beachwood , OH , USA.
Brian S
BS
Appleby
a Department of Neurology , Case Western Reserve University Hospitals , Beachwood , OH , USA.
Alan J
AJ
Lerner
D000328:Adult; D017668:Age of Onset; D002114:Calcinosis / Q000473:pathology; D003704:Dementia / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D005260:Female; D005625:Frontal Lobe / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D056784:Leukoencephalopathies / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D016187:Receptors, Granulocyte-Macrophage Colony-Stimulating Factor / Q000235:genetics*; D016186:Receptor, Macrophage Colony-Stimulating Factor
D016187:Receptors, Granulocyte-Macrophage Colony-Stimulating Factor; C000622186:CSF1R protein, human; D016186:Receptor, Macrophage Colony-Stimulating Factor
Cerebral calcification; adult-onset leukoencephalopathy with axonal spheroids and pigmented glia; colony stimulating factor 1 receptor (CSF1R); frontotemporal dementia; hereditary diffuse leukoencephalopathy with spheroids