Pathogenic variants in the CSF1Rgene cause a multisystem disorder (Heterozygous mutation)
• Age of Onset
Symptoms usually begin between ages 30 and 50.
• Initial Symptoms
a) Cognitive Impairment: common early signs include memory loss and executive dysfunction.
b) Psychiatric Symptoms: depression, anxiety, and personality changes are frequently observed.
c) Motor Dysfunction: gait disturbances, spasticity, and parkinsonism are notable.
d) Speech Difficulties: dysarthria and dysphagia may develop.
e) Seizures: occasionally present, often generalized.
• Disease Progression
Rapid deterioration leading to bedridden status and vegetative state within 5–7 years.
• Imaging Features
a) MRI Findings: bilateral white matter hyperintensities, especially in the splenium of the corpus callosum.
b) Atrophy: enlarged ventricles and thinning of the corpus callosum.
• Pathological Features
a) Axonal Spheroids: swollen axons indicative of neurodegeneration.
b) Pigmented Glia: abnormal glial cells with increased pigmentation.
CSF1R ALSP