title: Striatal glucose hypometabolism in preadolescent-onset dentatorubral-pallidoluysian atrophy.
abstract: Dentatorubral-pallidoluysian atrophy (DRPLA) is hereditary spinocerebellar degeneration presenting various symptoms in association with expansion of the CAG repeat in Atrophin-1 gene. The functional neuroimaging of DRPLA has been poorly investigated. The purpose of this study was to examine (18)F-fluorodeoxyglucose-positron emission tomography ((18)F-FDG-PET) findings of DRPLA. We retrospectively investigated the cases of 14 consecutive genetically confirmed DRPLA patients at our institute. Four juvenile-onset patients underwent (18)F-FDG-PET because of intractable seizures. Their (18)F-FDG-PET images, clinical profiles and MRI findings were evaluated. For quantitative comparison, 3 healthy volunteers also underwent (18)F-FDG-PET as controls. All four patients presented progressive myoclonus epilepsy without MRI abnormalities. Both the visual and quantitative assessments of their (18)F-FDG-PET findings demonstrated bistriatal hypometabolism in only the two preadolescent-onset patients with larger CAG repeat size, whereas the two other later-onset patients showed no hypometabolism in the striatum. Bistriatal glucose hypometabolism in preadolescent-onset DRPLA patients might reflect more severe degeneration. This finding could contribute to a better understanding of DRPLA.
authors.affiliation: Department of Radiology, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8551, Japan; Department of Neuropsychiatry, Graduate School of Medicine, The University of Tokyo, 7-3-1, Hongo, Bunkyo, Tokyo 113-8654, Japan.
authors.forename: Daichi
authors.initials: D
authors.lastname: Sone
authors.affiliation: Department of Radiology, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8551, Japan. Electronic address: snoriko@ncnp.go.jp.
authors.forename: Noriko
authors.initials: N
authors.lastname: Sato
authors.affiliation: Department of Radiology, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8551, Japan.
authors.forename: Kota
authors.initials: K
authors.lastname: Yokoyama
authors.affiliation: Department of Radiology, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8551, Japan.
authors.forename: Kaoru
authors.initials: K
authors.lastname: Sumida
authors.affiliation: Department of Degenerative Neurological Diseases, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Japan.
authors.forename: Masahiro
authors.initials: M
authors.lastname: Kanai
authors.affiliation: Integrative Brain Imaging Center, National Center of Neurology and Psychiatry, Japan.
authors.forename: Etsuko
authors.initials: E
authors.lastname: Imabayashi
authors.affiliation: Department of Pathology and Laboratory Medicine, National Center of Neurology and Psychiatry, Japan.
authors.forename: Yuko
authors.initials: Y
authors.lastname: Saito
authors.affiliation: Integrative Brain Imaging Center, National Center of Neurology and Psychiatry, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Matsuda
mesh_terms: D000328:Adult; D002648:Child; D003342:Corpus Striatum / Q000000981:diagnostic imaging / Q000378:metabolism* / Q000473:pathology; D005260:Female; D005947:Glucose / Q000378:metabolism*; D006801:Humans; D008297:Male; D020191:Myoclonic Epilepsies, Progressive / Q000000981:diagnostic imaging / Q000378:metabolism* / Q000473:pathology; D011877:Radionuclide Imaging; D012189:Retrospective Studies; D012640:Seizures / Q000000981:diagnostic imaging / Q000378:metabolism* / Q000473:pathology; D055815:Young Adult
chemical_list: D005947:Glucose
keywords: DRPLA; FDG-PET; Functional neuroimaging; Progressive myoclonus epilepsy; Striatal hypometabolism