Article
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
American journal of human genetics - 7 Dec 2012
Schuurs-Hoeijmakers Janneke H M, Geraghty Michael T, Kamsteeg Erik-Jan, Ben-Salem Salma, de Bot Susanne T, Nijhof Bonnie, van de Vondervoort Ilse I G M, van der Graaf Marinette, Nobau Anna Castells, Otte-Höller Irene, Vermeer Sascha, Smith Amanda C, Humphreys Peter, Schwartzentruber Jeremy, Ali Bassam R, Al-Yahyaee Saeed A, Tariq Said, Pramathan Thachillath, Bayoumi Riad, Kremer Hubertus P H, van de Warrenburg Bart P, van den Akker Willem M R, Gilissen Christian, Veltman Joris A, Janssen Irene M, Vulto-van Silfhout Anneke T, van der Velde-Visser Saskia, Lefeber Dirk J, Diekstra Adinda, Erasmus Corrie E, Willemsen Michèl A, Vissers Lisenka E L M, Lammens Martin, van Bokhoven Hans, Brunner Han G, Wevers Ron A, Schenck Annette, Al-Gazali Lihadh, de Vries Bert B A, de Brouwer Arjan P M
Abstract excerpt
We report on four families affected by a clinical presentation of complex hereditary spastic paraplegia (HSP) due to recessive mutations in DDHD2, encoding one of the three mammalian intracellular phospholipases A(1) (iPLA(1)). The core phenotype of this HSP syndrome consists of very early-onset (<2 years) spastic paraplegia, intellectual disability, and a specific pattern of brain abnormalities on cerebral...
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