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01.03.2013 | Original Communication

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

verfasst von: 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

Erschienen in: Journal of Neurology | Ausgabe 3/2013

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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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Titel: ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes
verfasst von: 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
Publikationsdatum: 01.03.2013
Verlag: Springer-Verlag
Erschienen in: Journal of Neurology / Ausgabe 3/2013
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-012-6723-z

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

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