title: Thalamic involvement determined using VSRAD advance on MRI and easy Z-score analysis of99mTc-ECD-SPECT in Gerstmann-Sträussler-Scheinker syndrome with P102L mutation.
abstract: Gerstmann-Sträussler-Scheinker syndrome caused by the P102L mutation in the prion protein gene (GSS102) is usually characterized by the onset of slowly progressive cerebellar ataxia, with dementia occurring much later. Because of the relatively long disease course and the prominence of progressive cerebellar ataxia in the early stage, GSS102 is often misdiagnosed as other neurodegenerative disorders. We present two cases of genetically proven GSS102L, both of which present with atrophy and decreased blood flow of the thalamus as determined by voxel-based specific regional analysis system for Alzheimer's disease (VSRAD) advance software and easy Z-score analysis for99mTc-ethyl cysteinate dimer-SPECT, respectively. These thalamic abnormalities have not been fully evaluated to date, and detecting them might be useful for differentiating GSS102 from other neurodegenerative disorders.
authors.affiliation: Department of Radiology, National Center of Neurology and Psychiatry, Japan.
authors.forename: Atsuhiko
authors.initials: A
authors.lastname: Sugiyama
authors.affiliation: Department of Radiology, National Center of Neurology and Psychiatry, 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, Japan.
authors.forename: Yukio
authors.initials: Y
authors.lastname: Kimura
authors.affiliation: Department of Radiology, National Center of Neurology and Psychiatry, Japan.
authors.forename: Tomoko
authors.initials: T
authors.lastname: Maekawa
authors.affiliation: Department of Neurology, National Center of Neurology and Psychiatry, Japan.
authors.forename: Noritaka
authors.initials: N
authors.lastname: Wakasugi
authors.affiliation: Department of Radiology, National Center of Neurology and Psychiatry, Japan.
authors.forename: Daichi
authors.initials: D
authors.lastname: Sone
authors.affiliation: Department of Radiology, National Center of Neurology and Psychiatry, Japan.
authors.forename: Mikako
authors.initials: M
authors.lastname: Enokizono
authors.affiliation: Department of Neurology, National Center of Neurology and Psychiatry, Japan.
authors.forename: Yuji
authors.initials: Y
authors.lastname: Takahashi
authors.affiliation: Department of Neurology, National Center of Neurology and Psychiatry, Japan.
authors.forename: Miho
authors.initials: M
authors.lastname: Murata
authors.affiliation: Department of Neurology, National Center of Neurology and Psychiatry, Japan.
authors.forename: Hidehiro
authors.initials: H
authors.lastname: Mizusawa
authors.affiliation: Integrative Brain Imaging Center, National Center of Neurology and Psychiatry, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Matsuda
mesh_terms: D000368:Aged; D003545:Cysteine / Q000031:analogs & derivatives; D005260:Female; D016098:Gerstmann-Straussler-Scheinker Disease / Q000000981:diagnostic imaging* / Q000235:genetics*; D006801:Humans; D007090:Image Interpretation, Computer-Assisted; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009154:Mutation; D015609:Organotechnetium Compounds; D000072002:Prion Proteins / Q000235:genetics*; D019275:Radiopharmaceuticals; D013788:Thalamus / Q000000981:diagnostic imaging*; D015899:Tomography, Emission-Computed, Single-Photon
chemical_list: D015609:Organotechnetium Compounds; C512656:PRNP protein, human; D000072002:Prion Proteins; D019275:Radiopharmaceuticals; C059659:technetium Tc 99m bicisate; D003545:Cysteine
keywords: Easy Z-score analysis; MRI; P102L; SEPCT; VSRAD