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It has been proposed that substrate reduction therapy using N\u2010butyl\u2010deoxynojirimycin (miglustat) may delay neurological progression, at least in late\u2010onset forms of GM2 gangliosidosis. We report the results of a 3\u2010year treatment with miglustat (100 mg t.i.d) in a patient with chronic Sandhoff disease manifesting with an atypical, spinal muscular atrophy phenotype. The follow\u2010up included serial neurological examinations, blood tests, abdominal ultrasound, and neurophysiologic, cognitive, brain, and muscle MRI studies. We document some minor effects on neurological progression in chronic Sandhoff disease by miglustat treatment, confirming the necessity of phase II therapeutic trials including early\u2010stage patients in order to assess its putative efficacy in chronic Sandhoff disease.<\/jats:p>","DOI":"10.1007\/s10545-010-9186-3","type":"journal-article","created":{"date-parts":[[2010,9,3]],"date-time":"2010-09-03T07:19:48Z","timestamp":1283498388000},"page":"355-361","source":"Crossref","is-referenced-by-count":36,"title":["Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3\u2010year follow\u2010up"],"prefix":"10.1002","volume":"33","author":[{"given":"Marcella","family":"Masciullo","sequence":"first","affiliation":[{"name":"Department of Neuroscience Catholic University of Sacred Heart Rome Italy"},{"name":"Don Gnocchi Foundation ONLUS Milan 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