Table 1.
Summary of Cases.
| Case 1 * | Case 2 * | Case 3 | ||
|---|---|---|---|---|
| Autopsy | Autopsy | Stereotactic biopsy | ||
| Age at onset (years) | 37 | 44 | 39 | |
| Sex | Female | Male | Female | |
| Duration of disease | 4 years | 10 years | 3 years | |
| Cognitive impairment | Present | Present | Present | |
| Psychiatric symptoms (e.g., depression, apathy, abulia, indifference, anxiety, irritability, distraction) | Present | Present | Present | |
| Pyramidal signs (hyperreflexia, spasticity, increased tone in extremities, pseudobulbar palsy) | Present | Present | Present | |
| Parkinsonism (resting tremor, rigidity, bradykinesia, postural instability) | Present | Present | Present | |
| Epilepsy | Absent | Present (at advanced stage) | Absent | |
| Autosomal dominant (AD) inheritance or sporadic occurrence | AD | AD | Sporadic | |
| Bilateral cerebral white matter lesions | Present | Present | Present | |
| Thinning of the corpus callosum | Present | Present | Present | |
| Stage (by Oyanagi) | II | III | N/A | |
| CSF1R mutation (pathogenic variant) | c.2345G > A | c.2345G > A | c.1765G > A | |
* Cases 1 and 2 occurred in siblings.