{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T02:35:55Z","timestamp":1789266955782,"version":"build-2803163510"},"reference-count":51,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,12,8]],"date-time":"2015-12-08T00:00:00Z","timestamp":1449532800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Background GM1 gangliosidosis is a lysosomal storage disorder caused by mutations in GLB1, encoding \u03b2\u2010galactosidase. The range of severity is from type I infantile disease, lethal in early childhood, to type III adult onset, resulting in gradually progressive neurological symtpoms in adulthood. The intermediate group of patients has been recently classified as having type II late infantile subtype with onset of symptoms at one to three years of age or type II juvenile subtype with symptom onset at 2\u201310 years. To characterize disease severity and progression, six Late infantile and nine juvenile patients were evaluated using magnetic resonance imaging (MRI), and MR spectroscopy (MRS). Since difficulties with ambulation (gross motor function) and speech (expressive language) are often the first reported symptoms in type II GM1, patients were also scored in these domains. Deterioration of expressive language and ambulation was more rapid in the late infantile patients. Fourteen MRI scans in six Late infantile patients identified progressive atrophy in the cerebrum and cerebellum. Twenty\u2010six MRI scans in nine juvenile patients revealed greater variability in extent and progression of atrophy. Quantitative MRS demonstrated a deficit of N\u2010acetylaspartate in both the late infantile and juvenile patients with greater in the late infantile patients. This correlates with clinical measures of ambulation and expressive language. The two subtypes of type II GM1 gangliosidosis have different clinical trajectories. MRI scoring, quantitative MRS and brain volume correlate with clinical disease progression and may serve as important minimally\u2010invasive outcome measures for clinical trials. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37468","type":"journal-article","created":{"date-parts":[[2015,12,9]],"date-time":"2015-12-09T21:11:31Z","timestamp":1449695491000},"page":"634-644","source":"Crossref","is-referenced-by-count":40,"title":["MRI\/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis"],"prefix":"10.1002","volume":"170","author":[{"given":"Debra S.","family":"Regier","sequence":"first","affiliation":[{"name":"Office of the Clinical Director National Human Genome Research Institute, National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyuk Joon","family":"Kwon","sequence":"additional","affiliation":[{"name":"Medical Genetics Branch National Human Genome Research 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