Marc C Patterson
Affiliation: Mayo Clinic
- Miglustat for treatment of Niemann-Pick C disease: a randomised controlled studyMarc C Patterson
Department of Neurology and Pediatrics, Columbia University, NY, USA
Lancet Neurol 6:765-72. 2007..Miglustat is able to cross the blood-brain barrier, and is thus a potential therapy for neurological diseases. We aimed to establish the effect of miglustat on several markers of NPC severity...
- Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort studyMarc C Patterson
Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA
Orphanet J Rare Dis 10:65. 2015..We report longitudinal data on functional disease progression and safety observations in patients in the international NPC Registry who received continuous treatment with miglustat...
- Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustatMark Walterfang
Royal Melbourne Hospital and Melbourne Neuropsychiatry Centre, Melbourne, Australia
Orphanet J Rare Dis 7:76. 2012..We then examine the potential links between dysphagia, aspiration, pneumonia and mortality with a view to assessing the possible effect of miglustat on patient lifespan...
- GangliosidosesMarc C Patterson
Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, MN, USA Electronic address
Handb Clin Neurol 113:1707-8. 2013..Carrier screening for Tay-Sachs disease has been remarkably successful in reducing the incidence of this disease in the at-risk Ashkenazi population. There are no proven disease-modifying therapies for the gangliosidoses...
- Disease and patient characteristics in NP-C patients: findings from an international disease registryMarc C Patterson
Mayo Clinic, Rochester, MN, USA
Orphanet J Rare Dis 8:12. 2013..We report data recorded at enrolment in an ongoing international NP-C registry initiated in September 2009 to describe disease natural history, clinical course and treatment experience of NP-C patients in clinical practice settings...
- Recommendations for the diagnosis and management of Niemann-Pick disease type C: an updateMarc C Patterson
Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Mol Genet Metab 106:330-44. 2012..Treatment goals and the application of disease-specific therapy with miglustat are also re-evaluated...
- Long-term miglustat therapy in children with Niemann-Pick disease type CMarc C Patterson
Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA
J Child Neurol 25:300-5. 2010..Miglustat stabilized neurological disease progression in pediatric patients with Niemann-Pick disease type C, with comparable safety and tolerability to that observed in adults and juveniles...
- Inborn errors of metabolism for child neurology residentsMarc C Patterson
Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, MN 55905, USA
Semin Pediatr Neurol 18:95-7. 2011....
- Cerebral and cerebellar white matter abnormalities with magnetic resonance imaging in a child with Feingold syndromeVance T Lehman
Department of Radiology, Mayo Clinic Graduate School of Medical Education, 200 First St S W, Rochester, MN 55905, USA
Am J Med Genet A 149:2824-7. 2009..Moreover, it is likely to be observed in the future due to increased use of MR imaging...
- Spiral analysis in Niemann-Pick disease type CAnnie W Hsu
Department of Neurology, Clinical Motor Physiology Laboratory, Columbia University Medical Center, New York, New York, USA
Mov Disord 24:1984-90. 2009..Other features, such as the tightness of loop widths, were normal. Our findings reveal that differing aspects of tremor, Parkinsonism, ataxia, and dystonia are quantifiable in NPC patients...
- A riddle wrapped in a mystery: understanding Niemann-Pick disease, type CMarc C Patterson
Division of Pediatric Neurology, Columbia University College of Physicians and Surgeons Children s Hospital of New York and The Neurological Institute of New York, Harkness Pavilion, HP 542, 180 Fort Washington Avenue, New York, NY, USA
Neurologist 9:301-10. 2003..Late onset disease has been increasingly recognized as the biochemical diagnosis of NPC has been more widely applied...
- Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1Walter D Park
Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA
Hum Mutat 22:313-25. 2003..This raises the possibilities of an additional NPC complementation group(s) or non-specificity of the biochemical testing for NPC. These caveats must be considered when offering mutation testing as a clinical service...
- The pathophysiology and mechanisms of NP-C diseaseStephen L Sturley
Institute of Human Nutrition, Columbia University Medical Center, New York, NY 10032, USA
Biochim Biophys Acta 1685:83-7. 2004....
- Therapy of Niemann-Pick disease, type CMarc C Patterson
Division of Pediatric Neurology, Neurological Institute of New York and Columbia University College of Physicians and Surgeons, 180 Fort Washington Avenue, HP 542, New York, NY 10032, USA
Biochim Biophys Acta 1685:77-82. 2004..More recent insights into the pathophysiology of NPC raise the possibility of small molecule therapies to interdict pathways triggering apoptosis and related routes to cell death and dysfunction...