Table 1.
No. | Age | Sex | Hallmarks of clinical diagnosis | Flexion angle (°) | Biopsy site | Biopsy findings | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Major findings | Minor findings | ||||||||||||||||
No. in (14). | Duration of PD in years | Duration of camptocormia in months | Therapy: l-Dopa, mg/d/other | Structural defects | Acid phosphatase activity in muscle fibers | Myofibrillar structural defects | Caliber variation | Whorled fibers | Endomysial fibrosis | Nuclear bags | Increase in internalized nuclei | Fiber type I:II | |||||
B1 | 1 | 55 | F | 4 | 8 | 800/– | 30 | Lumbar | + | + | + | + | + | + | + | + | 10:1 |
B2 | 2 | 59 | F | 10 | 28 | 700/– | 90 | Th12 | + | + | n.e. | + | 0 | + | + | + | 10:1 |
B3 | 13 | 72 | M | 17 | 30 | 600/– | 80 | Lumbar | + | + | + | + | + | + | + | + | 3:1 |
B4 | 5 | 64 | M | 7 | 32 | 1,400/– | 60 | Thoraco-lumbar | + | + | Ø | + | 0 | + | + | + | 1:1.5 |
B5 | 8 | 68 | F | 22 | 5 | –/DBS | 70 | Th12–L1 | + | + | + | + | 0 | + | + | + | 10:1 |
B6 | 11 | 69 | M | 15 | 12 | 300/– | 60 | L3 | + | + | + | + | + | + | + | + | 20:1 |
B8 | 4 | 62 | M | 10 | 5 | 800/– | 30 | L1 | + | + | + | + | + | + | + | + | 20:1 |
B9 | 10 | 68 | F | 41 | 54 | 500/DBS | 90 | Not specified | + | + | + | + | + | + | + | + | 40:1 |
B10 | 6 | 66 | F | 11 | 36 | 800/– | 45 | Th12–L1 | n.e. | n.e. | + | + | + | + | + | 0 | n.e. |
B11 | 9 | 68 | M | 9 | 72 | 1,350/– | 70 | Cervical | + | + | + | + | + | + | + | 0 | 1:1 |
B12 | 7 | 67 | M | 10 | 17 | 850/– | 45 | Th10–12 | + | + | + | + | 0 | + | + | + | 1:1 |
B13 | 3 | 61 | F | 13 | 17 | 1,200/– | 90 | Th12–L1 | + | + | Ø | + | + | + | + | + | 5:1 |
B14 | – | 70 | M | 6 | 9 | 750/– | 30–40 | Not specified | + | + | + | + | + | + | + | + | 40:1 |
+ Biopsy findings detectable, 0 not detectable, n.e. not exploitable, Ø no material available for electron microscopy, DBS deep brain stimulation