Table 1. [Suggestive Findings in Males and Females with Symptomatic X-Linked Adrenoleukodystrophy]. - GeneReviews®

Sex	Age (years)	Presenting Phenotype (Frequency of Persons Presenting w/Phenotype)	Clinical	Brain MRI
Male	Typically 4-8 yrs (peak 7 yrs); rarely before 3 yrs	Childhood CALD (30%-35% of males)	Progressive behavioral, cognitive, & neurologic deficits	Symmetric T₂-weighted hyperintensity, typically involving splenium of corpus callosum; active disease will have contrast enhancement.
11-21 yrs	Adolescent CALD (~5% of males)	Similar to cCALD
>21 yrs	Adult CALD (~20% of males)	Dementia, behavioral disturbances, & focal neurologic deficits	Similar to cCALD
20s & 30s	AMN (40%-45% of males) Note: ~70% have impaired adrenocortical function at onset of neurologic findings.	Leg weakness, spasticity, clumsy gait, pain, bladder & bowel dysfunction	Brain & spinal cord neuroimaging are normal.
2 yrs to adulthood (most commonly by 7.5 yrs)	Primary adrenocortical insufficiency only (~10% of males)	Primary adrenocortical insufficiency w/o apparent neurologic involvement
Female	Adulthood	AMN (~50% age >40 yrs; ~ 65% by age 65 yrs)	Primary adrenocortical insufficiency is rare & does not precede AMN (as is seen in males).	Normal except in rare exceptions

Sex

Age
(years)

Presenting Phenotype (Frequency of Persons Presenting w/Phenotype)

Clinical

Brain MRI

Male

Typically 4-8 yrs (peak 7 yrs); rarely before 3 yrs

Childhood CALD (30%-35% of males)

Progressive behavioral, cognitive, & neurologic deficits

Symmetric T₂-weighted hyperintensity, typically involving splenium of corpus callosum; active disease will have contrast enhancement.

11-21 yrs

Adolescent CALD (~5% of males)

Similar to cCALD

>21 yrs

Adult CALD (~20% of males)

Dementia, behavioral disturbances, & focal neurologic deficits

Similar to cCALD

20s & 30s

AMN (40%-45% of males)
Note: ~70% have impaired adrenocortical function at onset of neurologic findings.

Leg weakness, spasticity, clumsy gait, pain, bladder & bowel dysfunction

Brain & spinal cord neuroimaging are normal.

2 yrs to adulthood (most commonly by 7.5 yrs)

Primary adrenocortical insufficiency only (~10% of males)

Primary adrenocortical insufficiency w/o apparent neurologic involvement

Female

Adulthood

AMN (~50% age >40 yrs; ~ 65% by age 65 yrs)

Primary adrenocortical insufficiency is rare & does not precede AMN (as is seen in males).

Normal except in rare exceptions

From: X-Linked Adrenoleukodystrophy

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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