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December 1, 1997

Atrophy of the cerebellum and brainstem in dentatorubral pallidoluysian atrophy
Influence of CAG repeat size on MRI findings

December 1997 issue
49 (6) 1605-1612

Abstract

To elucidate how the size of the expanded CAG repeat of the gene for dentatorubral pallidoluysian atrophy (DRPLA) and other factors affect the atrophy of the brainstem and cerebellum, and the appearance of high-intensity signals on T2-weighted MRI of the cerebral white matter of patients with DRPLA, we quantitatively analyzed the MRI findings of 26 patients with DRPLA, the diagnosis of which was confirmed by molecular analysis of the DRPLA gene. When we classified the patients into two groups based on the size of the expanded CAG repeat of the DRPLA gene (group 1, number of CAG repeat units≥66; group 2, number of CAG repeat units ≤65), we found strong inverse correlations between the age at MRI and the areas of midsagittal structures of the cerebellum and brainstem in group 1 but not in group 2. Multiple regression analysis, however, revealed that both the patient's age at MRI and the size of the expanded CAG repeat correlated with the areas of midsagittal structures. Involvement of the cerebral white matter as detected on T2-weighted images was observed more frequently in patients belonging to group 2 than in group 1 patients. Furthermore it was demonstrated that high-intensity signals can be detected on T2-weighted images of the cerebral white matter of patients with a largely expanded CAG repeat (group 1) in their thirties. These results suggest that patient age as well as the size of the expanded CAG repeat are related to the degree of atrophy of the brainstem and cerebellum, and the white matter changes in patients with DRPLA.

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Published In

Neurology®
Volume 49Number 6December 1997
Pages: 1605-1612
PubMed: 9409354

Publication History

Published online: December 1, 1997
Published in print: December 1997

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Authors

Affiliations & Disclosures

R. Koide, MD
From the Department of Neurology (Drs. Koide, Onodera, Ikeuchi, Kondo, Tanaka, and Tsuji), Brain Research Institute, Niigata University; Department of Neurology (Dr. Tokiguchi), Ojiya General Hospital; Department of Child Development (Drs. Tomoda and Miike), Kumamoto University Medical School; Department of Neurology (Drs. Isa and Beppu), Tokyo Metropolitan Kita Medical Rehabilitation Center; Department of Neurology (Dr. Shimizu), Teikyo University School of Medicine, Ichihara Hospital, Ichihara; Department of Neurology (Drs. Watanabe and Horikawa), Shinrakuen Hospital, Niigata; Department of Neurology (Drs. Shimohata and Hirota), Akita Red Cross Hospital; and Department of Neurology (Dr. Ishikawa), National Sanatorium Nishi-Ojiya Hospital, Ojiya, Japan.
O. Onodera, MD
From the Department of Neurology (Drs. Koide, Onodera, Ikeuchi, Kondo, Tanaka, and Tsuji), Brain Research Institute, Niigata University; Department of Neurology (Dr. Tokiguchi), Ojiya General Hospital; Department of Child Development (Drs. Tomoda and Miike), Kumamoto University Medical School; Department of Neurology (Drs. Isa and Beppu), Tokyo Metropolitan Kita Medical Rehabilitation Center; Department of Neurology (Dr. Shimizu), Teikyo University School of Medicine, Ichihara Hospital, Ichihara; Department of Neurology (Drs. Watanabe and Horikawa), Shinrakuen Hospital, Niigata; Department of Neurology (Drs. Shimohata and Hirota), Akita Red Cross Hospital; and Department of Neurology (Dr. Ishikawa), National Sanatorium Nishi-Ojiya Hospital, Ojiya, Japan.
T. Ikeuchi, MD
From the Department of Neurology (Drs. Koide, Onodera, Ikeuchi, Kondo, Tanaka, and Tsuji), Brain Research Institute, Niigata University; Department of Neurology (Dr. Tokiguchi), Ojiya General Hospital; Department of Child Development (Drs. Tomoda and Miike), Kumamoto University Medical School; Department of Neurology (Drs. Isa and Beppu), Tokyo Metropolitan Kita Medical Rehabilitation Center; Department of Neurology (Dr. Shimizu), Teikyo University School of Medicine, Ichihara Hospital, Ichihara; Department of Neurology (Drs. Watanabe and Horikawa), Shinrakuen Hospital, Niigata; Department of Neurology (Drs. Shimohata and Hirota), Akita Red Cross Hospital; and Department of Neurology (Dr. Ishikawa), National Sanatorium Nishi-Ojiya Hospital, Ojiya, Japan.
R. Kondo, MD
From the Department of Neurology (Drs. Koide, Onodera, Ikeuchi, Kondo, Tanaka, and Tsuji), Brain Research Institute, Niigata University; Department of Neurology (Dr. Tokiguchi), Ojiya General Hospital; Department of Child Development (Drs. Tomoda and Miike), Kumamoto University Medical School; Department of Neurology (Drs. Isa and Beppu), Tokyo Metropolitan Kita Medical Rehabilitation Center; Department of Neurology (Dr. Shimizu), Teikyo University School of Medicine, Ichihara Hospital, Ichihara; Department of Neurology (Drs. Watanabe and Horikawa), Shinrakuen Hospital, Niigata; Department of Neurology (Drs. Shimohata and Hirota), Akita Red Cross Hospital; and Department of Neurology (Dr. Ishikawa), National Sanatorium Nishi-Ojiya Hospital, Ojiya, Japan.
H. Tanaka, MD
From the Department of Neurology (Drs. Koide, Onodera, Ikeuchi, Kondo, Tanaka, and Tsuji), Brain Research Institute, Niigata University; Department of Neurology (Dr. Tokiguchi), Ojiya General Hospital; Department of Child Development (Drs. Tomoda and Miike), Kumamoto University Medical School; Department of Neurology (Drs. Isa and Beppu), Tokyo Metropolitan Kita Medical Rehabilitation Center; Department of Neurology (Dr. Shimizu), Teikyo University School of Medicine, Ichihara Hospital, Ichihara; Department of Neurology (Drs. Watanabe and Horikawa), Shinrakuen Hospital, Niigata; Department of Neurology (Drs. Shimohata and Hirota), Akita Red Cross Hospital; and Department of Neurology (Dr. Ishikawa), National Sanatorium Nishi-Ojiya Hospital, Ojiya, Japan.
S. Tokiguchi, MD
From the Department of Neurology (Drs. Koide, Onodera, Ikeuchi, Kondo, Tanaka, and Tsuji), Brain Research Institute, Niigata University; Department of Neurology (Dr. Tokiguchi), Ojiya General Hospital; Department of Child Development (Drs. Tomoda and Miike), Kumamoto University Medical School; Department of Neurology (Drs. Isa and Beppu), Tokyo Metropolitan Kita Medical Rehabilitation Center; Department of Neurology (Dr. Shimizu), Teikyo University School of Medicine, Ichihara Hospital, Ichihara; Department of Neurology (Drs. Watanabe and Horikawa), Shinrakuen Hospital, Niigata; Department of Neurology (Drs. Shimohata and Hirota), Akita Red Cross Hospital; and Department of Neurology (Dr. Ishikawa), National Sanatorium Nishi-Ojiya Hospital, Ojiya, Japan.
A. Tomoda, MD
From the Department of Neurology (Drs. Koide, Onodera, Ikeuchi, Kondo, Tanaka, and Tsuji), Brain Research Institute, Niigata University; Department of Neurology (Dr. Tokiguchi), Ojiya General Hospital; Department of Child Development (Drs. Tomoda and Miike), Kumamoto University Medical School; Department of Neurology (Drs. Isa and Beppu), Tokyo Metropolitan Kita Medical Rehabilitation Center; Department of Neurology (Dr. Shimizu), Teikyo University School of Medicine, Ichihara Hospital, Ichihara; Department of Neurology (Drs. Watanabe and Horikawa), Shinrakuen Hospital, Niigata; Department of Neurology (Drs. Shimohata and Hirota), Akita Red Cross Hospital; and Department of Neurology (Dr. Ishikawa), National Sanatorium Nishi-Ojiya Hospital, Ojiya, Japan.
T. Miike, MD
From the Department of Neurology (Drs. Koide, Onodera, Ikeuchi, Kondo, Tanaka, and Tsuji), Brain Research Institute, Niigata University; Department of Neurology (Dr. Tokiguchi), Ojiya General Hospital; Department of Child Development (Drs. Tomoda and Miike), Kumamoto University Medical School; Department of Neurology (Drs. Isa and Beppu), Tokyo Metropolitan Kita Medical Rehabilitation Center; Department of Neurology (Dr. Shimizu), Teikyo University School of Medicine, Ichihara Hospital, Ichihara; Department of Neurology (Drs. Watanabe and Horikawa), Shinrakuen Hospital, Niigata; Department of Neurology (Drs. Shimohata and Hirota), Akita Red Cross Hospital; and Department of Neurology (Dr. Ishikawa), National Sanatorium Nishi-Ojiya Hospital, Ojiya, Japan.
F. Isa, MD
From the Department of Neurology (Drs. Koide, Onodera, Ikeuchi, Kondo, Tanaka, and Tsuji), Brain Research Institute, Niigata University; Department of Neurology (Dr. Tokiguchi), Ojiya General Hospital; Department of Child Development (Drs. Tomoda and Miike), Kumamoto University Medical School; Department of Neurology (Drs. Isa and Beppu), Tokyo Metropolitan Kita Medical Rehabilitation Center; Department of Neurology (Dr. Shimizu), Teikyo University School of Medicine, Ichihara Hospital, Ichihara; Department of Neurology (Drs. Watanabe and Horikawa), Shinrakuen Hospital, Niigata; Department of Neurology (Drs. Shimohata and Hirota), Akita Red Cross Hospital; and Department of Neurology (Dr. Ishikawa), National Sanatorium Nishi-Ojiya Hospital, Ojiya, Japan.
H. Beppu, MD
From the Department of Neurology (Drs. Koide, Onodera, Ikeuchi, Kondo, Tanaka, and Tsuji), Brain Research Institute, Niigata University; Department of Neurology (Dr. Tokiguchi), Ojiya General Hospital; Department of Child Development (Drs. Tomoda and Miike), Kumamoto University Medical School; Department of Neurology (Drs. Isa and Beppu), Tokyo Metropolitan Kita Medical Rehabilitation Center; Department of Neurology (Dr. Shimizu), Teikyo University School of Medicine, Ichihara Hospital, Ichihara; Department of Neurology (Drs. Watanabe and Horikawa), Shinrakuen Hospital, Niigata; Department of Neurology (Drs. Shimohata and Hirota), Akita Red Cross Hospital; and Department of Neurology (Dr. Ishikawa), National Sanatorium Nishi-Ojiya Hospital, Ojiya, Japan.
N. Shimizu, MD
From the Department of Neurology (Drs. Koide, Onodera, Ikeuchi, Kondo, Tanaka, and Tsuji), Brain Research Institute, Niigata University; Department of Neurology (Dr. Tokiguchi), Ojiya General Hospital; Department of Child Development (Drs. Tomoda and Miike), Kumamoto University Medical School; Department of Neurology (Drs. Isa and Beppu), Tokyo Metropolitan Kita Medical Rehabilitation Center; Department of Neurology (Dr. Shimizu), Teikyo University School of Medicine, Ichihara Hospital, Ichihara; Department of Neurology (Drs. Watanabe and Horikawa), Shinrakuen Hospital, Niigata; Department of Neurology (Drs. Shimohata and Hirota), Akita Red Cross Hospital; and Department of Neurology (Dr. Ishikawa), National Sanatorium Nishi-Ojiya Hospital, Ojiya, Japan.
Y. Watanabe, MD
From the Department of Neurology (Drs. Koide, Onodera, Ikeuchi, Kondo, Tanaka, and Tsuji), Brain Research Institute, Niigata University; Department of Neurology (Dr. Tokiguchi), Ojiya General Hospital; Department of Child Development (Drs. Tomoda and Miike), Kumamoto University Medical School; Department of Neurology (Drs. Isa and Beppu), Tokyo Metropolitan Kita Medical Rehabilitation Center; Department of Neurology (Dr. Shimizu), Teikyo University School of Medicine, Ichihara Hospital, Ichihara; Department of Neurology (Drs. Watanabe and Horikawa), Shinrakuen Hospital, Niigata; Department of Neurology (Drs. Shimohata and Hirota), Akita Red Cross Hospital; and Department of Neurology (Dr. Ishikawa), National Sanatorium Nishi-Ojiya Hospital, Ojiya, Japan.
Y. Horikawa, MD
From the Department of Neurology (Drs. Koide, Onodera, Ikeuchi, Kondo, Tanaka, and Tsuji), Brain Research Institute, Niigata University; Department of Neurology (Dr. Tokiguchi), Ojiya General Hospital; Department of Child Development (Drs. Tomoda and Miike), Kumamoto University Medical School; Department of Neurology (Drs. Isa and Beppu), Tokyo Metropolitan Kita Medical Rehabilitation Center; Department of Neurology (Dr. Shimizu), Teikyo University School of Medicine, Ichihara Hospital, Ichihara; Department of Neurology (Drs. Watanabe and Horikawa), Shinrakuen Hospital, Niigata; Department of Neurology (Drs. Shimohata and Hirota), Akita Red Cross Hospital; and Department of Neurology (Dr. Ishikawa), National Sanatorium Nishi-Ojiya Hospital, Ojiya, Japan.
T. Shimohata, MD
From the Department of Neurology (Drs. Koide, Onodera, Ikeuchi, Kondo, Tanaka, and Tsuji), Brain Research Institute, Niigata University; Department of Neurology (Dr. Tokiguchi), Ojiya General Hospital; Department of Child Development (Drs. Tomoda and Miike), Kumamoto University Medical School; Department of Neurology (Drs. Isa and Beppu), Tokyo Metropolitan Kita Medical Rehabilitation Center; Department of Neurology (Dr. Shimizu), Teikyo University School of Medicine, Ichihara Hospital, Ichihara; Department of Neurology (Drs. Watanabe and Horikawa), Shinrakuen Hospital, Niigata; Department of Neurology (Drs. Shimohata and Hirota), Akita Red Cross Hospital; and Department of Neurology (Dr. Ishikawa), National Sanatorium Nishi-Ojiya Hospital, Ojiya, Japan.
K. Hirota, MD
From the Department of Neurology (Drs. Koide, Onodera, Ikeuchi, Kondo, Tanaka, and Tsuji), Brain Research Institute, Niigata University; Department of Neurology (Dr. Tokiguchi), Ojiya General Hospital; Department of Child Development (Drs. Tomoda and Miike), Kumamoto University Medical School; Department of Neurology (Drs. Isa and Beppu), Tokyo Metropolitan Kita Medical Rehabilitation Center; Department of Neurology (Dr. Shimizu), Teikyo University School of Medicine, Ichihara Hospital, Ichihara; Department of Neurology (Drs. Watanabe and Horikawa), Shinrakuen Hospital, Niigata; Department of Neurology (Drs. Shimohata and Hirota), Akita Red Cross Hospital; and Department of Neurology (Dr. Ishikawa), National Sanatorium Nishi-Ojiya Hospital, Ojiya, Japan.
A. Ishikawa, MD
From the Department of Neurology (Drs. Koide, Onodera, Ikeuchi, Kondo, Tanaka, and Tsuji), Brain Research Institute, Niigata University; Department of Neurology (Dr. Tokiguchi), Ojiya General Hospital; Department of Child Development (Drs. Tomoda and Miike), Kumamoto University Medical School; Department of Neurology (Drs. Isa and Beppu), Tokyo Metropolitan Kita Medical Rehabilitation Center; Department of Neurology (Dr. Shimizu), Teikyo University School of Medicine, Ichihara Hospital, Ichihara; Department of Neurology (Drs. Watanabe and Horikawa), Shinrakuen Hospital, Niigata; Department of Neurology (Drs. Shimohata and Hirota), Akita Red Cross Hospital; and Department of Neurology (Dr. Ishikawa), National Sanatorium Nishi-Ojiya Hospital, Ojiya, Japan.
S. Tsuji, MD
From the Department of Neurology (Drs. Koide, Onodera, Ikeuchi, Kondo, Tanaka, and Tsuji), Brain Research Institute, Niigata University; Department of Neurology (Dr. Tokiguchi), Ojiya General Hospital; Department of Child Development (Drs. Tomoda and Miike), Kumamoto University Medical School; Department of Neurology (Drs. Isa and Beppu), Tokyo Metropolitan Kita Medical Rehabilitation Center; Department of Neurology (Dr. Shimizu), Teikyo University School of Medicine, Ichihara Hospital, Ichihara; Department of Neurology (Drs. Watanabe and Horikawa), Shinrakuen Hospital, Niigata; Department of Neurology (Drs. Shimohata and Hirota), Akita Red Cross Hospital; and Department of Neurology (Dr. Ishikawa), National Sanatorium Nishi-Ojiya Hospital, Ojiya, Japan.

Notes

Address correspondence and reprint requests to Dr. Shoji Tsuji, Department of Neurology, Brain Research Institute, Niigata University, Asahimachi 1, Niigata, 951 Japan.

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