Table 2.
Clinical findings of the symptomatic ALD female carriers
| F1 II-3 | F2 I-2 | F3 II-2 | F4 II-3 | F4 III-3 | F5 II-1 | F6 II-1 | F7 II-1 | F8 II-1 | |
|---|---|---|---|---|---|---|---|---|---|
| Age at evaluation (yrs) | 67 | 61 | 73 | 75 | 45 | 55 | 76 | 44 | 62 |
| Age at onset | 45 | 59 | 45 | 50 | 29 | 54 | 58 | 34 | 40 |
| Symptoms at onset | Difficulty to walk | Difficulty to walk and imbalance | Difficulty to walk | Difficulty to walk | Difficulty to walk & Back pain | Mild leg stiffness | Difficulty to walk | Difficulty to run | Difficulty to walk & Leg stiffness |
| Gait at examination | Paraparetic & ataxic gait | Paraparetic | Paraparetic | Paraparetic | Paraparetic | Near-normal | Paraparetic | Paraparetic | Paraparetic |
| Ambulation Index1 | 4 | 3 | 6 | 8 | 5 | 1 | 4 | 4 | 4 |
| Muscle tone (legs)2 | Increased (++) | Increased (+) | Increased (+++) | Increased (++) | Increased (+) | Increased (+) | Increased (+) | Increased (++) | Increased (++) |
| Tendon reflexes | Increased | Increased | Increased | Increased | Increased | Increased | Increased | Increased | Increased |
| Plantar response | Extensor | Extensor | Extensor | Extensor | Extensor | Extensor | Bilaterally indifferent | Extensor | Extensor |
| Vibration sense (legs)3 | Impaired (++) | Impaired (++) | Impaired (++) | Impaired (++) | Impaired (+) | Impaired (++) | Impaired (+) | Impaired (++) | Impaired (++) |
| Bladder function | Urge-incontinence | Urge-incontinence | Urge-incontinence | Urge-incontinence | Urge-incontinence | Normal | Incontinence | Normal | Normal |
| Other signs | No | Lumbar hyperlordosis | Mild upper limb ataxia | No | No | Lumbar hyperlordosis | No | Lumbar hyperlordosis | Lumbar hyperlordosis |
| Brain MRI | Normal | Normal | Normal | n.d. | Normal | Normal | Cerebral atrophy | Normal | Normal |
| MEPs | n.d. | Abnormal | Abnormal | n.d. | n.d. | Near-normal | Abnormal | Abnormal | Abnormal |
| SSEPs | n.d. | Abnormal | Abnormal | n.d. | n.d. | Abnormal | Abnormal | Abnormal | n.d. |
| VEPs | n.d. | Abnormal | Normal | n.d. | n.d. | Abnormal | n.d. | Normal | n.d. |
| BAEPs | n.d. | Abnormal | Abnormal | n.d. | n.d. | Normal | n.d. | Abnormal | n.d. |
| NCVs | n.d. | Normal | Normal | n.d. | Abnormal | Normal | Abnormal | Abnormal | Normal |
| Serum Cortisol | Normal | n.d. | Normal | n.d. | n.d. | Normal | n.d. | Normal | n.d. |
BAEPs, brainstem auditory evoked potentials, MEPs, motor evoked potentials; MRI, magnetic resonance imaging; n.d. = not done; NCVs, nerve conduction velocities; SSEPs, somato-sensory evoked potentials; VEPs, visual evoked potentials.
1For details, see Hauser et al., 1983 [23].
2 + = mild; ++ = moderate; +++ = severe.
3 + = vibration sense decreased in feet; ++ = vibration sense absent in feet, and lowered in lower legs [24].