title: FDG-PET study of patients with Leigh syndrome.
abstract: We conducted a [(18)F]fluorodeoxyglucose positron emission tomography (FDG-PET) study in five patients (median age 11 (range 4-13) years) with Leigh syndrome to evaluate its usefulness for understanding the functional brain dysfunction in this disease and in future drug trials. Four patients were found to have reported mitochondrial DNA gene mutations. The brain T2-weighted magnetic resonance imaging (MRI) showed high-intensity areas in the putamen bilaterally in five patients, caudate bilaterally in four, thalamus bilaterally in two, and brainstem in one. Cerebellar atrophy was observed in older two patients. For disease control, seven age-matched epilepsy patients who had normal MRI and FDG-PET studies were selected. For semiquantitative analysis of the lesions with decreased (18)F-FDG uptake, the mean standard uptake value (SUV) was calculated in regions of interest (ROIs) placed in each brain structure. We compared the SUV of nine segments (the frontal, temporal, parietal, and occipital lobes, thalami, basal ganglia, mid-brain, pons, and cerebellum) between patients with Leigh syndrome and controls. The glucose uptake was decreased significantly in the cerebellum and basal ganglia, which could explain the ataxia and dystonia in patients with Leigh syndrome. Although this study had some limitations, FDG-PET might be useful for evaluating the brain dysfunction and treatment efficacy of new drugs in patients with Leigh syndrome. Further study with more patients using advanced methods to quantify glucose uptake is needed before drawing a conclusion.
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan; Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai 982-0241, Japan. Electronic address: khaginoya@kha.biglobe.ne.jp.
authors.forename: Kauzhiro
authors.initials: K
authors.lastname: Haginoya
authors.affiliation: Department of Radiology, Tohoku University School of Medicine, Sendai 980-8574, Japan.
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Kaneta
authors.affiliation: Department of Neurology, Miyagi Children's Hospital, Sendai 989-3126, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Togashi
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan.
authors.forename: Naomi
authors.initials: N
authors.lastname: Hino-Fukuyo
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan.
authors.forename: Tomoko
authors.initials: T
authors.lastname: Kobayashi
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan.
authors.forename: Mitsugu
authors.initials: M
authors.lastname: Uematsu
authors.affiliation: Department of Pediatrics, Sendai City Hospital, Sendai 982-8502, Japan.
authors.forename: Taro
authors.initials: T
authors.lastname: Kitamura
authors.affiliation: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai 982-0241, Japan.
authors.forename: Takehiko
authors.initials: T
authors.lastname: Inui
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan; Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai 982-0241, Japan.
authors.forename: Yukimune
authors.initials: Y
authors.lastname: Okubo
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan; Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai 982-0241, Japan.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Takezawa
authors.affiliation: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai 982-0241, Japan.
authors.forename: Mai
authors.initials: M
authors.lastname: Anzai
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan; Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai 982-0241, Japan.
authors.forename: Wakaba
authors.initials: W
authors.lastname: Endo
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Saitsu
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan.
authors.forename: Shigeo
authors.initials: S
authors.lastname: Kure
mesh_terms: D000293:Adolescent; D001479:Basal Ganglia / Q000000981:diagnostic imaging*; D002531:Cerebellum / Q000000981:diagnostic imaging*; D002648:Child; D002675:Child, Preschool; D019788:Fluorodeoxyglucose F18 / Q000378:metabolism*; D006801:Humans; D007888:Leigh Disease / Q000000981:diagnostic imaging*; D049268:Positron-Emission Tomography
chemical_list: D019788:Fluorodeoxyglucose F18
keywords: FDG-PET; Leigh syndrome; PET; mitochondrial disease; neuroimaging; positron emission tomography