Diagnostic details for families studied
| Diagnosis | No of cases | Neuropathology | Clinical symptoms | MRI | Family history | Linkage analysis | Mutations | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Nucleotide | Amino acid | ||||||||||||||||
| Family 1 | Definite | 19 | Definite | 1, 2, 3, 4 | Typical | Yes | Pos | C583T | R171C | ||||||||
| Family 2 | Definite | 21 | Definite | 1, 2, 3, 4 | Typical | Yes | Pos | C475T | R135C | ||||||||
| Family 3 | Probable | 2 | NA | 1, 3, 4 | Typical | Yes | NA | C499T | R143C | ||||||||
| Family 4 | Probable | 4 | NA | 1, 2, 3 | Typical | Yes | NA | C499T | R143C | ||||||||
| Family 5 | Probable | 3 | NA | 1, 3, 4 | Typical | Yes | NA | C622T | R184C | ||||||||
| Proband family 6 | Probable | 1 | NA | 1, 2 | Typical | Yes | NA | C622T | R184C | ||||||||
NA: not available.
Clinical symptoms: (1) strokes, (2) psychiatric symptoms, (3) migraine with or without aura, (4) dementia.