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

Salsano, Ettore; Tabano, Silvia; Sirchia, Silvia M; Colapietro, Patrizia; Castellotti, Barbara; Gellera, Cinzia; Rimoldi, Marco; Pensato, Viviana; Mariotti, Caterina; Pareyson, Davide; Miozzo, Monica; Uziel, Graziella

doi:10.1186/1750-1172-7-10

Orphanet Journal of Rare Diseases

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.

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].

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ISSN: 1750-1172

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