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

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

*Bijbehorende auteur voor dit werk

OnderzoeksoutputAcademicpeer review

13 Citaten (Scopus)


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.

Originele taal-2English
Pagina's (van-tot)869-875
Aantal pagina's7
TijdschriftJournal of Neurology
Nummer van het tijdschrift3
StatusPublished - mrt.-2013

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