Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, 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.1073-1081
Hauptverfasser: 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.
Format: Artikel
Sprache:eng
Schlagworte:
Biological and medical sciences
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Fundamental and applied biological sciences. Psychology
Genetics of eukaryotes. Biological and molecular evolution
Medical genetics
Medical sciences
Molecular and cellular biology
Neurology
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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
DOI:10.1016/j.ajhg.2012.10.017