Natural history of X-linked adrenoleukodystrophy in Japan.

[adrenomyeloneuropathy]

The natural history of X-linked adrenoleukodystrophy (ALD ) was investigated , using a nation-wide retrospective study based on a questionnaire survey . The data on 145 patients , including 46 patients with the childhood cerebral form , 39 with adrenomyeloneuropathy (AMN ), 33 with the adult cerebral form , 14 with the adolescent form and 13 with the olivo -ponto-cerebellar (OPC ) form , were analyzed . Initial symptoms of the childhood cerebral form were intellectual (n =16 ) and visual (n =11 ) disturbances , whereas those of AMN were gait (n =37 ) and sensory (n =3 ) disturbances ; the adult cerebral form , psychic (n =19 ) and gait (n =11 ) disturbances ; the adolescent form , visual n =5 ) and gait (n =4 ) disturbances ; and the OPC form , gait (n =9 ) disturbance . Patients with onset under the age of 8 years progressed more rapidly than those over 8 years old . Visual , hearing , gait and swallowing disturbances progressed more slowly in the older group . About half of AMN patients showed cerebral involvement about 10 years after onset . Patients with the OPC form also showed a similar progression . A Kaplan-Meier plot clarified the characteristic pattern of progression of neurological symptoms in each phenotype . These finding will improve the understanding of the natural history of X-linked ALD and will provide a basis for the evaluation of specific treatment for X-linked ALD .

Diseases
Validation

Diseases presenting "cerebral form" symptom

adrenomyeloneuropathy

neonatal adrenoleukodystrophy

pyruvate dehydrogenase deficiency

x-linked adrenoleukodystrophy

zellweger syndrome

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