X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

Table 1 The X-ALD phenotypes

	CCALD	AdolCALD	ACALD	AMN		Addison only	Women with X-ALD
	CCALD	AdolCALD	ACALD	No cerebral disease	Cerebral disease	Addison only	Women with X-ALD
Frequency (%)	31 - 35	4 - 7	2 - 5	40 - 46	20% of AMN patients over a period of 10 years	Decreasing with age	unknown how many are symptomatic
Age at onset	2.5 - 10	10 - 21	> 21	> 18	> 18	> 2	highly variable, mostly > 40
Myelopathy	-	Possible at a preclinical stage	+ or -	+	+	-	+
White matter lesions on brain MRI	Extensive	Extensive	Extensive	Wallerian degeneration of the	parieto-occipital, frontal, or	-	Very rare
				corticospinal tracts in brain-stem, pons and internal capsules	involving the centrum semiovale		Wallerian degeneration of the corticospinal tracts in brain-stem, pons and internal capsules is less common than in males with AMN
Behavioral and cognitive disorder	+	+	+	-	+	-	Very rare
Peripheral neuropathy	-	rare	possible	Sensory-motor, mostly axonal, rarely demyelinating	Sensory-motor, mostly axonal	-	+/−
Endocrine disorder	often AD	often AD	often AD	often AD and testicular insufficiency	often AD and testicular insufficiency	AD	AD rare (< 1%)
Progression	rapid	rapid	rapid	slow	rapid	-	slow

- = absent; + = present; CCALD = childhood cerebral ALD; AdolCALD = adolescent cerebral ALD; ACALD = adult cerebral ALD; AMN = adrenomyeloneuropathy; AD = Addison-disease.

ISSN: 1750-1172