Article
ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes.
Journal of neurology - 1 Mar 2013
de Bot S T, Veldink J H, Vermeer S, Mensenkamp A R, Brugman F, Scheffer H, van den Berg L H, Kremer H P H, Kamsteeg E J, van de Warrenburg B P
Abstract excerpt
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...
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