Corpus Callosum Atrophy in Patients with Hereditary Diffuse Leukoencephalopathy with Neuroaxonal Spheroids: An MRI-based Study

Michiaki Kinoshita; Yasufumi Kondo; Kunihiro Yoshida; Kazuhiro Fukushima; Ken-ichi Hoshi; Keisuke Ishizawa; Nobuo Araki; Ikuru Yazawa; Yukihiko Washimi; Banyu Saitoh; Jun-ichi Kira; Shu-ichi Ikeda

doi:10.2169/internalmedicine.53.0863

ORIGINAL ARTICLES

Corpus Callosum Atrophy in Patients with Hereditary Diffuse Leukoencephalopathy with Neuroaxonal Spheroids: An MRI-based Study

Michiaki Kinoshita, Yasufumi Kondo, Kunihiro Yoshida, Kazuhiro Fukushima, Ken-ichi Hoshi, Keisuke Ishizawa, Nobuo Araki, Ikuru Yazawa, Yukihiko Washimi, Banyu Saitoh, Jun-ichi Kira, Shu-ichi Ikeda

Author information

Michiaki Kinoshita
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan
Yasufumi Kondo
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan
Kunihiro Yoshida
Department of Brain Disease Research, Shinshu University School of Medicine, Japan
Kazuhiro Fukushima
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan
Ken-ichi Hoshi
Department of Neurology, Nagano Red-Cross Hospital, Japan
Keisuke Ishizawa
Department of Neurology, Saitama Medical School, Japan
Nobuo Araki
Department of Neurology, Saitama Medical School, Japan
Ikuru Yazawa
Laboratory of Research Resources, Research Institute for Longevity Sciences, National Center for Geriatrics and Gerontology, Japan
Yukihiko Washimi
Department for Cognitive Disorders, National Center for Geriatrics and Gerontology, Japan
Banyu Saitoh
Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Japan
Jun-ichi Kira
Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Japan
Shu-ichi Ikeda
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan

Keywords: hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS), colony stimulating factor 1 receptor (CSF1R), white matter lesions (WMLs), corpus callosum atrophy (CCA), corpus callosum index (CCI)

JOURNAL OPEN ACCESS

2014 Volume 53 Issue 1 Pages 21-27

DOI https://doi.org/10.2169/internalmedicine.53.0863

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Abstract

Objective Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) is an adult-onset white matter disease that presents clinically with cognitive, mental and motor dysfunction. Several autopsy reports have indicated that the corpus callosum (CC), the largest bundle of white matter, is severely affected in patients with HDLS. The aim of this study was to evaluate corpus callosum atrophy (CCA) quantitatively in HDLS patients.
Methods We assessed CCA in six genetically-proven HDLS patients (HDLS group), in comparison with that observed in 20 patients with vascular dementia (VaD group) and 24 age-matched patients without organic central nervous system (CNS) disease (non-CNS group). Using midsagittal MR images, five measurements of the CC were obtained: the width of the rostrum (aa'), body (bb') and splenium (cc'), the anterior to posterior length (ab) and the maximum height (cd). Next, the corpus callosum index (CCI) was calculated as (aa' + bb' + cc')/ab.
Results All HDLS patients had white matter lesions in the CC and frontoparietal lobes on the initial MRI scans. Compared with that observed in the VaD and age-matched non-CNS groups, the CCI was significantly decreased in the HDLS group (with VaD group, p<0.01; with non-CNS group, p<0.01).
Conclusion This study showed significant atrophy of the CC in all HDLS patients on the initial MRI scans obtained 6-36 months after onset. We propose that the early appearance of CCA, frequently accompanied by high-intensity in the genu and/or splenium, on T2 images is an important diagnostic clue to HDLS.

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