Table 1.
Clinical features of cases affected by a late-onset painful sensory polyneuropathy
| Family | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 2 | 2 | 2 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Case number | I | II | III | IV | V | VI | VII | IX | X | XI | XII | XIII | XIV | XV | XVIII | XIX | XX | XXI | XXII | XXIII | XXIV |
| Status | A | A | A | P | A | A | P | A | A | P | P | P | P | A | P | A | A | P | A | A | A |
| Sex | M | F | F | M | F | F | F | F | F | M | M | F | M | M | M | F | F | F | M | M | F |
| NAGLU enzyme function | 0.99 | NT | 1.49 | 0.95 | 1.52 | 0.87 | 0.7 | 1.37 | 0.96 | 1.3 | 1.12 | 1.03 | 0.83 | 1.32 | 0.64 | 2.21 | 0.85 | 0.97 | NT | NT | NT |
| Year of birth | 1947 | 1948 | 1935 | 1986 | 1939 | 1944 | 1965 | 1942 | 1946 | 1957 | 1980 | 1955 | 1991 | 1938 | 1960 | 1973 | 1972 | 1979 | 1941 | 1937 | 1964 |
| Age exam | 61 | 60 | 75 | 24 | 74 | 69 | 47 | 70 | 67 | 55 | 32 | 57 | 21 | 75 | 53 | 40 | 41 | 34 | 60 | 62 | 43 |
| Age onset of daily leg pain | 52 | 48 | 60 | 20 | 35 | 61 | 44 | 61 | 49 | NDP | 30 | NDP | 19 | 50 | 45 | 18 | 30 | NDP | 12 | 18 | <18 |
| Lower leg pains | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | NT | + | + |
| Sleep disturbances | + | + | + | + | + | + | + | + | + | − | + | + | + | − | + | + | + | − | NT | NT | + |
| Sensory ataxia (age onset) | − | 50 | 65 | − | 65 | + | − | + | 64 | − | − | − | − | − | − | 34 | 38 | − | − | − | 35 |
| Loss of DTR | + | + | − | − | + | + | − | + | + | − | − | − | − | + | − | + | − | − | − | + | + |
| Decreased vibration sense | + | + | + | − | + | + | − | + | + | − | − | − | − | + | − | − | + | − | + | + | + |
| Pinprick level | + | + | + | − | + | − | − | + | + | − | − | − | − | − | − | − | + | − | − | NT | + |
| Nystagmus | − | − | − | − | − | − | − | − | − | NT | − | NT | NT | − | NT | − | − | − | − | − | − |
| Muscle weakness | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − |
| Age of last EMG | 60 | 65 | 75 | 24 | 38 | 42 | |||||||||||||||
| Motor conduction | Norm | ↓ amp. | Norm | Norm | Norm | Norm | |||||||||||||||
| Sensory conduction | ↓ amp. | ↓ amp. | Norm | Norm | Norm | Norm | |||||||||||||||
| EMG | Norm | Denerv. | Norm | Norm | Norm | Norm |
A = affected; amp. = amplitude; Denerv = denervation; DTR = deep tendon reflexes; P = possible; Norm = normal; NT = not tested.