{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["32(2)"],"submitter":["Ito D"],"pubmed_abstract":["A 13-month-old female Toy Poodle was presented for progressive ataxia and intention tremors of head movement. The diagnosis of Sandhoff's disease (GM2 gangliosidosis) was confirmed by deficient β-N-acetylhexosaminidase A and B activity in circulating leukocytes and identification of the homozygous mutation (HEXB: c.283delG). White matter in the cerebrum and cerebellum was hyperintense on T2-weighted and fluid-attenuated inversion recovery magnetic resonance images. Over the next 2 years, the white matter lesions expanded, and bilateral lesions appeared in the cerebellum and thalamus, associated with clinical deterioration. Magnetic resonance spectroscopy showed progressive decrease in brain N-acetylaspartate, and glycine-myo-inositol and lactate-alanine were increased in the terminal clini"],"journal":["Journal of veterinary internal medicine"],"pagination":["797-804"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5867010"],"repository":["biostudies-literature"],"pubmed_title":["Two-Year Follow-Up Magnetic Resonance Imaging and Spectroscopy Findings and Cerebrospinal Fluid Analysis of a Dog with Sandhoff's Disease."],"pmcid":["PMC5867010"],"pubmed_authors":["Jeffery ND","Kitagawa M","Ishikawa C","Ito D","Yamato O","Ono K","Tsuboi M","Uchida K"],"additional_accession":[]},"is_claimable":false,"name":"Two-Year Follow-Up Magnetic Resonance Imaging and Spectroscopy Findings and Cerebrospinal Fluid Analysis of a Dog with Sandhoff's Disease.","description":"A 13-month-old female Toy Poodle was presented for progressive ataxia and intention tremors of head movement. The diagnosis of Sandhoff's disease (GM2 gangliosidosis) was confirmed by deficient β-N-acetylhexosaminidase A and B activity in circulating leukocytes and identification of the homozygous mutation (HEXB: c.283delG). White matter in the cerebrum and cerebellum was hyperintense on T2-weighted and fluid-attenuated inversion recovery magnetic resonance images. Over the next 2 years, the white matter lesions expanded, and bilateral lesions appeared in the cerebellum and thalamus, associated with clinical deterioration. Magnetic resonance spectroscopy showed progressive decrease in brain N-acetylaspartate, and glycine-myo-inositol and lactate-alanine were increased in the terminal clini","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Mar","modification":"2025-04-04T14:48:50.358Z","creation":"2019-03-26T23:20:47Z"},"accession":"S-EPMC5867010","cross_references":{"pubmed":["29478290"],"doi":["10.1111/jvim.15041"]}}