TY - JOUR
T1 - Natural history of X-linked adrenoleukodystrophy in Japan
AU - Suzuki, Yasuyuki
AU - Takemoto, Yasuhiko
AU - Shimozawa, Nobuyuki
AU - Imanaka, Tsuneo
AU - Kato, Shunichi
AU - Furuya, Hirokazu
AU - Kaga, Makiko
AU - Kato, Koji
AU - Hashimoto, Naohiro
AU - Onodera, Osamu
AU - Tsuji, Shoji
N1 - Funding Information:
This study was supported by a Research Grant on Specific Diseases from the Ministry of Health, Labor and Welfare of Japan.
PY - 2005/8
Y1 - 2005/8
N2 - 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.
AB - 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.
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U2 - 10.1016/j.braindev.2004.09.008
DO - 10.1016/j.braindev.2004.09.008
M3 - Article
C2 - 16023551
AN - SCOPUS:22244455074
VL - 27
SP - 353
EP - 357
JO - Brain and Development
JF - Brain and Development
SN - 0387-7604
IS - 5
ER -