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

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

Case	Sex	Origin	Onset age	Age at death	Initial symptoms	Affected family members	Prominent pathology
1^a	F	USA	late 40’s	56	Cognitive decline, depression, slowed movement	3 siblings	Severe dorsolateral frontal white matter loss, disrupted axons, axonal spheroids
2^a	F	USA	54	57	Poor balance, cognitive and memory decline, slowed movement	3 siblings	Severe orbital frontal white matter loss, disrupted axons, axonal spheroids
3^a	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

ISSN: 2051-5960