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Table 1 The X-ALD phenotypes

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

  CCALD AdolCALD ACALD AMN Addison only Women with X-ALD
No cerebral disease Cerebral disease
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
  1. - = absent; + = present; CCALD = childhood cerebral ALD; AdolCALD = adolescent cerebral ALD; ACALD = adult cerebral ALD; AMN = adrenomyeloneuropathy; AD = Addison-disease.