Table 1.
Family | A |
B |
C |
|||||
---|---|---|---|---|---|---|---|---|
II : 2 | II : 4 | II : 7 | III : 4 | III : 9 | II : 1 | II : 4 | III : 1 | |
Current age, years | 77 | 74 | 69 | 49 | 42 | 76 | 71 | 69 |
Onset age, years | 62 | 60 | 59 | 48 | 42 | 69 | 66 | 54 |
Sex | M | M | F | F | F | M | M | M |
Initial symptoms | ||||||||
Asymmetry | + | + | + | + | + | + | + | + |
Rest tremor | ++ | ++ | ++ | − | − | ++ | ++ | + |
Rigidity | + | + | + | + | + | + | + | + |
Bradykinesia | + | + | + | + | + | + | + | + |
UPDRS scores (on time) | ||||||||
Part I | 1 | 0 | 2 | 1 | 0 | N/A | N/A | N/A |
Part II | 12 | 9 | 15 | 6 | 3 | N/A | N/A | N/A |
Part III | 35 | 27 | 39 | 12 | 9 | N/A | N/A | N/A |
Hoehn-Yahr stage (on time) | III | III | IV | I | I | III | II | V |
Cognition | ||||||||
MMSE | 29 | 30 | 28 | 30 | 30 | N/A | N/A | N/A |
Associated symptoms | ||||||||
Anxiety | + | + | + | + | + | N/A | N/A | N/A |
Depression | − | − | + | + | − | N/A | N/A | N/A |
Polyneuropathy | + | + | + | + | − | N/A | N/A | N/A |
Drug response | ||||||||
Levodopa | Well | Well | Well | Well | Well | Well | Well | Well |
Anticholinergics | Well | Well | Well | N/A | N/A | Well | Well | Well |
Brain MRI study | Mild diffuse atrophy | Mild diffuse atrophy | Mild diffuse atrophy | Unremarkable | Unremarkable | N/A | N/A | N/A |
Nerve conduction study | ||||||||
Ulnar nerve MNCV, m/s (normal: >50 m/s) | 45↓ | 46↓ | 45↓ | 48↓ | 52 | N/A | N/A | N/A |
Ulnar nerve cMAP, mV (normal: >6.0 mV) | 3.2↓ | 3.0↓ | 3.7↓ | 5.2↓ | 5.8↓ | N/A | N/A | N/A |
Ulnar nerve SAP, mV (normal: >10.0 mV) | 2.8↓ | 2.9↓ | 3.2↓ | 9.5↓ | 9.2↓ | N/A | N/A | N/A |
Sural nerve SAP, mV (normal: >5.0 mV) | Absent | Absent | Absent | Absent | Absent | N/A | N/A | N/A |
EMG study | Neurogenica | Neurogenica | Neurogenica | Neurogenica | N/A | N/A | N/A | N/A |
cMAP = compound muscle action potential; F = female; M = male; MMSE = Mini-Mental State Examination; MNCV = motor nerve conduction velocity; N/A = not assessed or not available from medical records; SAP = sensory action potential; UPDRS = Unified Parkinson's Disease Rating Scale, ‘on time’ refers to periods of adequate control of Parkinson’s disease motor symptoms and was usually within 3 h after taking levodopa medications. Upward arrow indicates increase; downwards arrow indicates decrease; −= absent; + = mild; ++ = moderate.
Neurogenic polyphasic waves in bilateral first dorsal interosseous muscles and tibialis anterior muscles.