Publications by authors named "Sophie Hebestreit"
Article Synopsis
- Primary familial brain calcification (PFBC) and early-onset Alzheimer's disease (EOAD) may have shared genetic causes, as seen in a patient with both conditions.
- A specific mutation in the SLC20A2 gene was linked to brain calcifications, while another mutation in the PSEN1 gene was connected to early-onset dementia symptoms.
- The study suggests that the effects of these two genetic mutations appear to add to each other rather than interact in a more complex way, and emphasizes the importance of neuropsychological assessments and amyloid PET scans for diagnosing these disorders.
