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Table 2 Clinical findings of the symptomatic ALD female carriers

From: Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

  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 Index 1 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.
  1. 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.
  2. 1For details, see Hauser et al., 1983 [23].
  3. 2 + = mild; ++ = moderate; +++ = severe.
  4. 3 + = vibration sense decreased in feet; ++ = vibration sense absent in feet, and lowered in lower legs [24].