Table 1.

Primary and secondary human microgliopathies

Disease	Clinical hallmarks	Gene(s)	Cited studies
Human diseases in which microgliopathy plays a primary role
Nasu-Hakola disease	Progressive dementia, multifocal bone cysts	DAP12 or TREM2	Paloneva et al. [44]
Hereditary diffuse leukoencephalopathy with spheroids (HDLS)	White matter disease, personality and behavioral changes, dementia, depression, Parkinsonism, seizures	CSF1R	Nicholson et al. [45], Rademakers et al. [46]
Pseudo-TORCH syndrome (PTS), including Aicardi–Goutières syndrome	Microcephaly, white matter disease, cerebral atrophy, CNS calcifications, neonatal seizures	USP18, ISG15, TREX1, RNASEH2(A, B, or C isoforms), SAMHD1, ADAR1, IFIH1	Goldmann et al. [98], Meuwissen et al. [99], Zhang et al. [100], Crow and Rehwinkel [101], Rice et al. [102]
Human diseases exhibiting white matter microgliopathy as a pathological feature
Multiple sclerosis	Demyelination, muscle weakness, ataxia, vision problems, chronic pain and/or exhaustion	Demyelinating lesions with microglial clusters	Prinz et al. [32], Marziniak and Meuth [67]
Alzheimer’s disease	Progressive loss of neurons and synapses leading to cognitive decline	Microglial clustering around plaques	Michailidou et al. [103], Hong et al. [55]
Stroke	Brain infarction and neuronal death leading to impaired motor function	Late-stage infarct border clustering of microglia and peripheral immune cells	Michailidou et al. [103], Becker et al. [75], Becker et al. [76]
Traumatic brain injury	Highly variable cognitive, emotional, and motor impairments	Complement-enriched microglia clusters	Michailidou et al. [103]