Mutations in DDHD2, Encoding an Intracellular Phospholipase A^sub 1^, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

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 A1 (iPLA1). The core phenotype of this HSP syndrome consists of very early-onset (

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Veröffentlicht in:	American journal of human genetics 2012-12, Vol.91 (6), p.1073
Hauptverfasser:	Schuurs-Hoeijmakers, Janneke HM, Geraghty, Michael T, Kamsteeg, Erik-Jan, Ben-Salem, Salma, de Bot, Susanne T, Nijhof, Bonnie, van de Vondervoort, Ilse IGM, 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 PH, van de Warrenburg, Bart P, van den Akker, Willem MR, 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 ELM, Lammens, Martin, van Bokhoven, Hans, Brunner, Han G, Wevers, Ron A, Schenck, Annette, Al-Gazali, Lihadh, de Vries, Bert BA, de Brouwer, Arjan PM
Format:	Artikel
Sprache:	eng
Schlagworte:	Enzymes Genetic disorders Genotype & phenotype Insects Mutation Neurological disorders NMR Nuclear magnetic resonance
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Zusammenfassung:	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 A1 (iPLA1). The core phenotype of this HSP syndrome consists of very early-onset (
ISSN:	0002-9297 1537-6605