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Table 5 Phenotypic comparison between reported male ALD forms and two brothers

From: Exome sequencing identifies mutations in ABCD1 and DACH2in two brothers with a distinct phenotype

Forms Description Two brothers
Childhood cerebral Onset at 3-10 years of age with a peak at seven years. This form virtually never occurs before three years of age. Affected boys present with progressive behavioural and cognitive neurological deficits, such as inattention, hyperactivity, deterioration in handwriting skills, diminishing school performance; difficulty in understanding speech, spatial orientation; clumsiness; visual disturbances; and aggressive behavior. Brain MRI examination can be strikingly abnormal even when symptoms are relatively mild. Most individuals have impaired adrenocortical function at the time that neurological disturbances are first noted. Total disability often within 3 years. Onset before 2 years of age. Presentation is not progressive, including congenital language disorder, intellectual disability, growth retardation, response retardation, dysphoria, drooling; difficulty in walking and standing; urinary incontinence and fecal incontinence; movement and sensory dysfunctions of lower limbs; normal brain MRI, normal adrenocortical function.
Adrenomyeloneuropathy (AMN) Onset at 28 ± 9 years, progressive stiffness and weakness of legs, abnormalities of sphincter control, sexual dysfunction, distal axonopathy, inflammation mild or absent, mainly spinal cord involvement, cerebral involvement later in 45% of cases.
Adolescent cerebral Like childhood cerebral, but onset at 10-21 years of age. Somewhat slower progression.
Adult cerebral Dementia, behavioral disturbances. Rapid inflammatory cerebral progression resembling the childhood form, without preceding AMN, onset after 21 years of age.
Addison-only Primary adrenocortical insufficiency without neurological abnormalities, including unexplained vomiting, weakness, coma, onset before 7.5 years of age.
Asymptomatic or presymptomatic ALD gene abnormality without neurological or endocrine abnormalities, further studies can reveal subclinical adrenal insufficiency or mild AMN phenotype. This form is common in boys under 4 years of age.
Olivo-ponto-cerebellar Cerebral and brain stem involvement, onset between adolescence to adulthood.