Sandhoff Disease: Improvement of Gait by Acetyl-DL-Leucine: A Case Report

Tatiana Bremova-Ertl; Frances Platt; Michael Strupp

doi:10.1055/s-0040-1715486

Neuropediatrics, Inhaltsverzeichnis

Neuropediatrics 2020; 51(06): 450-452
DOI: 10.1055/s-0040-1715486

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Sandhoff Disease: Improvement of Gait by Acetyl-DL-Leucine: A Case Report

Tatiana Bremova-Ertl

¹Department of Neurology and German Center for Vertigo and Balance Disorders, Ludwig Maximilians University, Munich, Campus Grosshadern, Munich, Germany

²Department of Neurology, University Hospital of Bern, Bern, BE, Switzerland

,

Frances Platt

³Department of Pharmacology, University of Oxford, Oxford, Oxfordshire, United Kingdom

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Michael Strupp

¹Department of Neurology and German Center for Vertigo and Balance Disorders, Ludwig Maximilians University, Munich, Campus Grosshadern, Munich, Germany

References
1 Bremova T, Malinová V, Amraoui Y. et al. Acetyl-dl-leucine in Niemann-Pick type C: a case series. Neurology 2015; 85 (16) 1368-1375
2 Cortina-Borja M, Te Vruchte D, Mengel E. et al. Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials. Orphanet J Rare Dis 2018; 13 (01) 143
3 Vibert N, Vidal PP. In vitro effects of acetyl-DL-leucine (tanganil) on central vestibular neurons and vestibulo-ocular networks of the guinea-pig. Eur J Neurosci 2001; 13 (04) 735-748
4 Kaya E, Smith DA, Smith C, Boland B, Strupp M, Platt FM. Beneficial effects of Acetyl-DL-Leucine (ADLL) in a mouse model of Sandhoff disease. J Clin Med 2020; 9 (04) E1050 , In press