PhenomeGene — Human Disease Gene Website SeriesCSF1R ALSP

Clinical Characteristics

•    What happens to patients?
Brain problems:
a) Memory gets worse (forgetting things, trouble with planning)
b) Personality changes (happy people may become depressed/angry, some see/hear things that aren’t real)
c) Body doesn’t cooperate (stiff muscles, shaky hands, trouble walking like a "rusty robot")
d) Late stage: Can’t walk or swallow, needs full-time care

•    Key facts about the disease
a) Starts in adulthood: Usually between ages 30-50
b) Gets worse over time: From forgetfulness to severe dementia in 5-15 years

•    Why does it happen?
a) Genetic "glitch": A problem in the CSF1Rgene (like a computer bug)
b) Can be inherited: If one parent has it, each child has a 50% chance
c) Or random accident: many cases happen without family history (spontaneous mutation)