ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes
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Publication date
2013
Authors
Bot, S.T.
Veldink, Jan
Vermeer, S.
Mensenkamp, A.R.
Brugman, F.
Scheffer, H.
van den Berg, Leonard
Kremer, H.
Kamsteeg, E-J.
Warrenburg, B.P.C.
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Article
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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.
Keywords
Econometric and Statistical Methods: General, Geneeskunde (GENK), Geneeskunde(GENK), Medical sciences, Bescherming en bevordering van de menselijke gezondheid, Journal Article, Research Support, Non-U.S. Gov't
Citation
Bot, S T, Veldink, J H, Vermeer, S, Mensenkamp, A R, Brugman, F, Scheffer, H, van den Berg, L H, Kremer, H, Kamsteeg, E-J & Warrenburg, B P C 2013, 'ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes', Journal of Neurology, vol. 260, no. 3, pp. 869-875. https://doi.org/10.1007/s00415-012-6723-z