Adult-onset adrenoleukodystrophy of the olivopontocerebellar form and lacking cerebral involvement

Koike, Yuka; Umeda, Yoshitaka; Umeda, Maiko; Oyake, Mutsuo; Fujita, Nobuya
September 2016
Neurology & Clinical Neuroscience;Sep2016, Vol. 4 Issue 5, p186
A 40-year-old man presented with subacute progressive gait disturbance. Two uncles on his mother's side were diagnosed previously as having adult-onset adrenoleukodystrophy. Fluid-attenuated inversion recovery magnetic resonance imaging showed hyperintense regions in the cerebellum, middle cerebellar peduncles, pons and midbrain with gadolinium enhancement without cerebral involvement. A missense mutation of the ABCD1 gene (c.1661 G>A) was found. We should note that adrenoleukodystrophy of the olivopontocerebellar form can be present, even if there is no involvement in the cerebrum. This case is unique, because it showed bilateral pontocerebellar pathway involvements symmetrically. If patients with the olivopontocerebellar form are diagnosed early, it might be possible to suppress the progression of the disease with bone marrow transplantation.


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