Article
Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.
Journal of neurology, neurosurgery, and psychiatry - 1 Oct 2010
de Bot S T, van den Elzen R T M, Mensenkamp A R, Schelhaas H J, Willemsen M A A P, Knoers N V A M, Kremer H P H, van de Warrenburg B P C, Scheffer H
Abstract excerpt
BACKGROUND: In the clinically and genetically heterogeneous group of the hereditary spastic paraplegias (HSPs), mutations in the SPAST gene are most frequently found and cause a pure autosomal dominant form. OBJECTIVE: To provide the clinical and genetic characteristics of Dutch patients with HSP due to a SPAST mutation (SPG4). METHODS: SPAST mutation carriers were identified through a comprehensive national...
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