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01-01-2014 | Original Communication

Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease

Authors: Mathieu Anheim, Ouhaïd Lagha-Boukbiza, Marie-Céline Fleury-Lesaunier, Maria-Paola Valenti-Hirsch, Edouard Hirsch, Hélène Gervais-Bernard, Emmanuel Broussolle, Stéphane Thobois, Marie T. Vanier, Philippe Latour, Christine Tranchant

Published in: Journal of Neurology | Issue 1/2014

Abstract

Niemann-Pick type C disease (NPC) is a recessive neurolipidosis. We report five adolescent and adult NPC cases to underscore the frequency and heterogeneity of movement disorders in NPC. Clinical, morphologic, biochemical and genetic study was performed in the five patients. Disease onset was between 8 and 50 years. Movement disorders were present in all cases, were heterogeneous and often combined [cerebellar ataxia (5/5), myoclonus (3/5), dystonia (2/5), chorea (1/5) and tremor (1/5)] and were the first sign in 4/5. Two patients were reported to have no vertical supranuclear gaze palsy (VSGP) at the first examination. Two patients experienced acute neuropsychiatric signs leading to death in one case due to myoclonic storm. Filipin staining was always positive. Two NPC1 mutations were identified in three patients, only one in two siblings. NPC should be considered in case of unexplained movement disorders, even when VSGP or cataplexy are not reported. Filipin staining remains a strong support for the diagnosis. Treatment with miglustat should be considered which is currently the only approved disease-specific treatment of NPC in children and adults.

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Title: Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease
Authors: Mathieu Anheim
Ouhaïd Lagha-Boukbiza
Marie-Céline Fleury-Lesaunier
Maria-Paola Valenti-Hirsch
Edouard Hirsch
Hélène Gervais-Bernard
Emmanuel Broussolle
Stéphane Thobois
Marie T. Vanier
Philippe Latour
Christine Tranchant
Publication date: 01-01-2014
Publisher: Springer Berlin Heidelberg
Published in: Journal of Neurology / Issue 1/2014
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-013-7159-9

At a glance: The STEP trials

Springer Medicine

Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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