• Eun-Joo Kim, Jin-Hong Shin, Jeong Hee Lee, Jong Hun Kim, Duk L Na, Yeon-Lim Suh, Sun Jae Hwang, Jae-Hyeok Lee, Young Min Lee, Myung-Jun Shin, Myung Jun Lee, Seong-Jang Kim, Uicheul Yoon, Do Youn Park, Dae Soo Jung, Jae Woo Ahn, Suk Sung, and Gi Yeong Huh.
• Department of Neurology, Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute, Busan, South Korea.
• J. Neurol. Sci. 2015 Feb 15;349(1-2):232-8.

AbstractWe describe detailed clinical, biochemical, neuroimaging and neuropathological features in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), encompassing hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD), linked to colony-stimulating factor 1 receptor (CSF1R) mutations in four Korean cases. Clinical, biochemical, neuroimaging and neuropathological findings were obtained by direct evaluation and from previous medical records. The genetic analysis of the CSF1R gene was done in two autopsy-confirmed ALSP cases and two cases where ALSP was suspected based on the clinical and neuroimaging characteristics. We identified two known mutations: c.2342C>T (p.A781V) in one autopsy-proven HDLS and clinically ALSP-suspected case and c.2345G>A (p.R782H) in another autopsy-proven POLD case. We also found a novel mutation (c.2296A>G; p.M766V) in a patient presenting with hand tremor, stuttering and hesitant speech, and abnormal behavior whose father died from a possible diagnosis of spinocerebellar ataxia. To the best of our knowledge, this is the first documented ALSP-linked CSF1R mutation in Korea and supports the suggestion that HDLS and POLD, with pathological characteristics that are somewhat different but which are caused by CSF1R mutations, are the same spectrum of disease, ALSP.Copyright © 2014 Elsevier B.V. All rights reserved.

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