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Table 1 Clinical characteristics of individuals with the CSF1R p.Arg782His mutation

From: Common neuropathological features underlie distinct clinical presentations in three siblings with hereditary diffuse leukoencephalopathy with spheroids caused by CSF1R p.Arg782His

Case Sex Origin Onset age Age at death Initial symptoms Affected family members Prominent pathology
1a F USA late 40’s 56 Cognitive decline, depression, slowed movement 3 siblings Severe dorsolateral frontal white matter loss, disrupted axons, axonal spheroids
2a F USA 54 57 Poor balance, cognitive and memory decline, slowed movement 3 siblings Severe orbital frontal white matter loss, disrupted axons, axonal spheroids
3a M USA early 50’s 55 Poor balance, cognitive decline, slowed movement 3 siblings Severe orbital frontal and parietal white matter myelin loss, disrupted axons, axonal spheroids
4 F Japan 51 - Cognitive decline, aphasia, epileptic seizures 3 uncles, cousin Disrupted axons, axonal spheroids (biopsy)
5 F USA 51 - Cognitive and memory decline 3 aunts Disrupted axons, axonal spheroids (biopsy)
6 F Korea 37 42 Poor balance, stuttering, dysarthria sibling, mother, uncle Frontal and parietal white matter myelin loss, disrupted axons, axonal spheroids
  1. aCases reported in this study