title: Natural history of motor neuron disease in adult onset GM2-gangliosidosis: A case report with 25 years of follow-up.
abstract: An adult with Sandhoff disease presented with pure lower motor neuron phenotype. Twenty years later, he showed signs of upper motor neuron involvement. 25 years from the onset, his muscle weakness slightly worsened but he was fully independent in activities of daily living. GM2-gangliosidosis can manifest as a motor neuron disease with a slowly progressive course. The correct knowledge of the natural history can be really important to achieve the diagnosis, design new therapies and evaluate clinical trials.
authors.affiliation: Section of Neurology, Department of Neurological and Movement Sciences, University of Verona, Verona, Italy.
authors.forename: Mauro
authors.initials: M
authors.lastname: Scarpelli
authors.affiliation: Section of Neurology, Department of Neurological and Movement Sciences, University of Verona, Verona, Italy.
authors.forename: Giuliano
authors.initials: G
authors.lastname: Tomelleri
authors.affiliation: Section of Neurology, Department of Neurological and Movement Sciences, University of Verona, Verona, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Bertolasi
authors.affiliation: Section of Neurology, Department of Neurological and Movement Sciences, University of Verona, Verona, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Salviati
keywords: Hexosaminidase deficiency; Motor neuron disease; Sandhoff disease