Patient | 1 | 2 | 3 | 4 | 5 |
---|---|---|---|---|---|
Sex | M | M | M | M | M |
Age at onset | 52 | 57 | 64 | 73 | 72 |
Age at NSDD onset | 59 | 60 | 84 | 74 | 83 |
Age at MRI | 63 | 61 | 85 | 77 | 83 |
Family history | + | + | + | – | + |
L-DOPA response | + | + | + | NE | NE |
Symptoms | |||||
 Cerebellar ataxia | + | + | + | + | + |
 Rigidity | + | + | + | – | + |
 Bradykinesia/akinesia | + | + | + | + | + |
 Tremor | + | – | – | – | + |
 Vertical gaze palsy | – | – | + | – | – |
 Increased DTR | + | + | + | – | + |
 Dysautonomia | – | – | – | – | – |
Brain MRI findings | |||||
 Cerebellar atrophy | + | + | + | + | + |
 MCP atrophy | – | – | – | – | – |
 Putamen atrophy | – | – | – | – | – |
 Hot cross bun sign | – | – | – | – | – |
Neuromelanin MRI | |||||
 SN neuromelanin signal | ↓ | ↓ | ↓ | ↓ | NE |
 LC neuromelanin signal | ↓ | ↓ | ↓ | → | NE |
RI findings | |||||
 DAT scintigraphy  SBR (Right/Left) | 0.44/0.04 | 3.20/3.39 | NE | 3.08/2.71 | NE |