Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy
Kazuto Katsuse, Takashi Matsukawa, Yumiko Nakamura, Kazuo Kakinuma, Shoko Ota, Ryo Hara, Saki Nakashima, Kaoru Ito, Yutaro Nakamori, Toshiyuki Kakumoto, Masashi Hamada, Shigenori Kanno, Kyoko Suzuki, Tatsushi TodaABSTRACT
Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual dysfunction and posterior interhemispheric disconnection signs, including visual‐field‐dependent reading or naming deficits and dichotic listening abnormalities. Diffusion tensor imaging showed preferential involvement of posterior callosal and visual stream‐related white‐matter pathways. These findings define a posterior disconnection phenotype of adult‐onset cerebral adrenoleukodystrophy and provide a clinically useful framework for early recognition and timely therapeutic consideration of this treatable leukodystrophy.