Rare Genetic Mutation Linked to Alzheimer's Disease

Research conducted by Guizhou University of Traditional Chinese Medicine in Guiyang, People's Republic of China, has shed light on a rare genetic mutation associated with Alzheimer's disease. The study, published in Frontiers in Genetics, documents a case of CSF1R-microglial encephalopathy caused by a dominant autosomal mutation in exon 20 of the CSF1R gene. The patient, a 53-year-old woman, presented with early-onset cognitive decline, personality changes, and behavioral abnormalities, with severe cognitive impairment and Alzheimer's disease-related changes in cerebrospinal fluid biomarkers.

Key Takeaways:

• A rare intronic c.2654+1G A mutation in the CSF1R gene was identified as the cause of CSF1R-microglial encephalopathy in a 53-year-old woman.
• The patient's family history revealed that three out of 19 individuals across four generations developed dementia and progressed to severe cognitive impairment rapidly.
• The study suggests that negative diffusion-weighted imaging (DWI) findings should not exclude CSF1R-microglial encephalopathy, and that early genetic testing is critical for early diagnosis and intervention.
• CSF biomarker profiles in patients with CSF1R-microglial encephalopathy may exhibit Alzheimer's disease-related changes.
• The research highlights the importance of genetic testing for individuals with a family history of dementia and cognitive decline.

Statistics:

• 53: The age of the patient with CSF1R-microglial encephalopathy.
• 19: The number of family members across four generations who developed dementia and progressed to severe cognitive impairment.
• 3: The number of family members who developed dementia and progressed to severe cognitive impairment.
• 20: The exon in the CSF1R gene where a dominant autosomal mutation was identified.
• 5: The year a news report on the study was published in Health & Medicine Week.

Sources:

• NewsRx. Study Data from Guizhou University of Traditional Chinese Medicine Update Understanding of Alzheimer Disease (A rare intronic c.2654+1G A mutation in CSF1R-microglial encephalopathy: a case report). Health & Medicine Week. September 5, 2025; p 7645.
• Guizhou University of Traditional Chinese Medicine.
• Frontiers in Genetics. A rare intronic c.2654+1G A mutation in CSF1R-microglial encephalopathy: a case report. Vol. 16 (2025).
• Wu, H.Y., Shi, J.Y., Wang, X.S., Yang, M., Cai, J. (2025). A rare intronic c.2654+1G A mutation in CSF1R-microglial encephalopathy: a case report. Frontiers in Genetics, 16.