Table 2.
Clinical features and cognitive tests of the patients carrying a CSF1R pathogenic mutation.
| Patient no | Patient I | Patient II | Patient III | Patient IV | Patient V |
|---|---|---|---|---|---|
| Mutation | p.T79M | p.K586* | p.G589R | p.R777Q | p.R782C |
| Age at onset, sex | 86 y, male | 79 y, male | 43 y, female | 41 y, female | 50 y, male |
| Family history of dementia | None | Brother, sister | Brother | None | None |
| Personal history | HTN, DM, Lipid, CKD, CHF, smoking | None | None | Sjogren's syndrome, Hashimoto thyroiditis | None |
| Cognitive tests, score (percentile score) | |||||
| Age at exam | 87 y | 82 y | 46 y | 44 y | 54 y |
| Education | 16 y | 12 y | 9 y | 12 y | 12 y |
| Mini‐mental status examination | 17 (≦1%) | 22 (≦1%) | 20 (≦1%) | 7 (≦1%) | 21 (≦1%) |
| Delayed recalls at 12‐item test | 1 (<2%) | 4 (5%–9%) | 5 (10%–30%) | ND | 5 (10%–30%) |
| Category verbal fluency | 5 (<3%) | 4 (<3%) | 6 (<3%) | ND | 8 (<11%) |
| Trial making test A | 360 sec (<1%) | 190 sec (<2%) | 150 sec (<2%) | ND | ND |
| Forward digit span test | 6 (<5%) | 5 (<1%) | 9 (>19%) | ND | 7 (5%–19%) |
| Backward digit span test | 2 (<2%) | 3 (4%–16%) | 2 (<2%) | ND | 2 (<2%) |
| Behavior changes | None | None | None | Repetition, stereotyping | Compulsive behavior |
| Psychiatric problems | None | Liable mood, anxiety | Depression | Apathy, social withdraw | Apathy, agitation |
| Parkinsonism | Postural tremor | Small steps, ataxic gait | Bradykinesia, rigidity, freezing gait | Action and postural tremor | None |
| Seizure | None | None | None | GTCS | None |
HTN, hypertension; DM, Diabetes mellitus; Lipid, hyperlipidemia; CKD, chronic kidney disease; CHF, congestive heart failure; ND, not done; GTCS, generalized tonic clonic seizure; y, years; sec, seconds. The raw score and percentile score of each cognitive test were shown. The percentile score falling below 1.5 standard deviations (i.e. <16%) of the normative data was defined as significantly impaired.