spinal cord involvement with few if any brain abnormalities. progressive paraparesis, sphincter dysfunction, sexual dysfunction, and adrenocortical deficiency. when adults present with cerebral involvement presentation is often neuropsychiatric prior to other manifestations (ataxia, seizures, dementia) 15. progressive impairment motor and cognitive function, vision and hearing. presents after 2.5 years of age (typically at 4-8 years). Up to eight phenotypes have been described but the three main types in males are 3,8,11,12,15: Some individuals can be asymptomatic.Īs a general rule, most children will have prominent supratentorial involvement, whereas adults will have more pronounced spinal cord involvement ( adrenomyeloneuropathy) 15. The presentation will depend on the phenotype which in turn depends upon the age (see below). Although most cases are diagnosed in childhood, a significant proportion of cases manifest in young adults (typically late 20s) 3,11,12 and thus adrenoleukodystrophy is one of the most common adult-onset leukodystrophies 15. Due to its X-linked inheritance, it classically affects young males, although carrier females can be affected. 
The estimated incidence of adrenoleukodystrophy is 1:20,000-50,000.
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