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01-03-2013 | Original Communication

ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes

Authors: S. T. de Bot, J. H. Veldink, S. Vermeer, A. R. Mensenkamp, F. Brugman, H. Scheffer, L. H. van den Berg, H. P. H. Kremer, E. J. Kamsteeg, B. P. van de Warrenburg

Published in: Journal of Neurology | Issue 3/2013

Abstract

SPAST mutations are the most common cause of autosomal dominant hereditary spastic paraplegias (AD-HSPs), but many spastic paraplegia patients are found to carry no mutations in this gene. In order to assess the contribution of ATL1 and REEP1 in AD-HSP, we performed mutational analysis in 27 SPAST-negative AD-HSP families. We found three novel ATL1 mutations and one REEP1 mutation in five index-patients. In 110 patients with sporadic adult-onset upper motor neuron syndromes, a novel REEP1 mutation was identified in one patient. Apart from a significantly younger age at onset in ATL1 patients and restless legs in some, the clinical phenotype of ATL1 and REEP1 was similar to other pure AD-HSPs.

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Title: ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes
Authors: S. T. de Bot
J. H. Veldink
S. Vermeer
A. R. Mensenkamp
F. Brugman
H. Scheffer
L. H. van den Berg
H. P. H. Kremer
E. J. Kamsteeg
B. P. van de Warrenburg
Publication date: 01-03-2013
Publisher: Springer-Verlag
Published in: Journal of Neurology / Issue 3/2013
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-012-6723-z

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes

Abstract

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

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