title: Serial MRI features of canine GM1 gangliosidosis: a possible imaging biomarker for diagnosis and progression of the disease.
abstract: GM1 gangliosidosis is a fatal neurodegenerative lysosomal storage disease caused by an autosomal recessively inherited deficiency of β-galactosidase activity. Effective therapies need to be developed to treat the disease. In Shiba Inu dogs, one of the canine GM1 gangliosidosis models, neurological signs of the disease, including ataxia, start at approximately 5 months of age and progress until the terminal stage at 12 to 15 months of age. In the present study, serial MR images were taken of an affected dog from a model colony of GM1 gangliosidosis and 4 sporadic clinical cases demonstrating the same mutation in order to characterize the MRI features of this canine GM1 gangliosidosis. By 2 months of age at the latest and persisting until the terminal stage of the disease, the MR findings consistently displayed diffuse hyperintensity in the white matter of the entire cerebrum on T2-weighted images. In addition, brain atrophy manifested at 9 months of age and progressed thereafter. Although a definitive diagnosis depends on biochemical and genetic analyses, these MR characteristics could serve as a diagnostic marker in suspect animals with or without neurological signs. Furthermore, serial changes in MR images could be used as a biomarker to noninvasively monitor the efficacy of newly developed therapeutic strategies.
authors.affiliation: Division of Veterinary Radiology, Department of Veterinary Science, Nippon Veterinary and Life Science University, Tokyo 180-8602, Japan.
authors.forename: Daisuke
authors.initials: D
authors.lastname: Hasegawa
authors.forename: Osamu
authors.initials: O
authors.lastname: Yamato
authors.forename: Yuya
authors.initials: Y
authors.lastname: Nakamoto
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Ozawa
authors.forename: Akira
authors.initials: A
authors.lastname: Yabuki
authors.forename: Kazuhito
authors.initials: K
authors.lastname: Itamoto
authors.forename: Takayuki
authors.initials: T
authors.lastname: Kuwabara
authors.forename: Michio
authors.initials: M
authors.lastname: Fujita
authors.forename: Kimimasa
authors.initials: K
authors.lastname: Takahashi
authors.forename: Shunta
authors.initials: S
authors.lastname: Mizoguchi
authors.forename: Hiromitsu
authors.initials: H
authors.lastname: Orima
mesh_terms: D000818:Animals; D015415:Biomarkers; D018450:Disease Progression; D004283:Dog Diseases / Q000175:diagnosis* / Q000473:pathology; D004285:Dogs; D016537:Gangliosidosis, GM1 / Q000175:diagnosis / Q000473:pathology / Q000662:veterinary*; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male
chemical_list: D015415:Biomarkers