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 |
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| creator | 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 |
| description | 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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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 imaging. An essential role for DDHD2 in the human CNS, and perhaps more specifically in synaptic functioning, is supported by a reduced number of active zones at synaptic terminals in Ddhd-knockdown Drosophila models. All identified mutations affect the protein's DDHD domain, which is vital for its phospholipase activity. In line with the function of DDHD2 in lipid metabolism and its role in the CNS, an abnormal lipid peak indicating accumulation of lipids was detected with cerebral magnetic resonance spectroscopy, which provides an applicable diagnostic biomarker that can distinguish the DDHD2 phenotype from other complex HSP phenotypes. We show that mutations in DDHD2 cause a specific complex HSP subtype (SPG54), thereby linking a member of the PLA1 family to human neurologic disease. 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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 imaging. An essential role for DDHD2 in the human CNS, and perhaps more specifically in synaptic functioning, is supported by a reduced number of active zones at synaptic terminals in Ddhd-knockdown Drosophila models. All identified mutations affect the protein's DDHD domain, which is vital for its phospholipase activity. In line with the function of DDHD2 in lipid metabolism and its role in the CNS, an abnormal lipid peak indicating accumulation of lipids was detected with cerebral magnetic resonance spectroscopy, which provides an applicable diagnostic biomarker that can distinguish the DDHD2 phenotype from other complex HSP phenotypes. We show that mutations in DDHD2 cause a specific complex HSP subtype (SPG54), thereby linking a member of the PLA1 family to human neurologic disease. [PUBLICATION ABSTRACT]</description><subject>Enzymes</subject><subject>Genetic disorders</subject><subject>Genotype & phenotype</subject><subject>Insects</subject><subject>Mutation</subject><subject>Neurological disorders</subject><subject>NMR</subject><subject>Nuclear magnetic resonance</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><recordid>eNqNj01qwzAQhUVooe7PHQa6jUGySWwvg53gLgqh7Tph6kwSBUVyNVJID9B7V4seoKvH4_ve4k1EpmZllc_ncnYjMillkTdFU92Je-aTlErVsszEz2sMGLSzDNpC1_VdMYWlHdxO2wOghRcbPA5kTDToYX10PB6d0SMywWLD8RPUZgotxtQR3mggZn0hWDl_BreH1p1HQ1foydNOB_Tf8J7GQQ-wRo-JHTQ-its9Gqanv3wQz6vlR9vno3dfkThsTy56m9BWFWWdvtRVU_7P-gXqJ1In</recordid><startdate>20121207</startdate><enddate>20121207</enddate><creator>Schuurs-Hoeijmakers, Janneke HM</creator><creator>Geraghty, Michael T</creator><creator>Kamsteeg, Erik-Jan</creator><creator>Ben-Salem, Salma</creator><creator>de Bot, 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A</au><au>Vissers, Lisenka ELM</au><au>Lammens, Martin</au><au>van Bokhoven, Hans</au><au>Brunner, Han G</au><au>Wevers, Ron A</au><au>Schenck, Annette</au><au>Al-Gazali, Lihadh</au><au>de Vries, Bert BA</au><au>de Brouwer, Arjan PM</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutations in DDHD2, Encoding an Intracellular Phospholipase A^sub 1^, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia</atitle><jtitle>American journal of human genetics</jtitle><date>2012-12-07</date><risdate>2012</risdate><volume>91</volume><issue>6</issue><spage>1073</spage><pages>1073-</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><abstract>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 (<2 years) spastic paraplegia, intellectual disability, and a specific pattern of brain abnormalities on cerebral imaging. An essential role for DDHD2 in the human CNS, and perhaps more specifically in synaptic functioning, is supported by a reduced number of active zones at synaptic terminals in Ddhd-knockdown Drosophila models. All identified mutations affect the protein's DDHD domain, which is vital for its phospholipase activity. In line with the function of DDHD2 in lipid metabolism and its role in the CNS, an abnormal lipid peak indicating accumulation of lipids was detected with cerebral magnetic resonance spectroscopy, which provides an applicable diagnostic biomarker that can distinguish the DDHD2 phenotype from other complex HSP phenotypes. We show that mutations in DDHD2 cause a specific complex HSP subtype (SPG54), thereby linking a member of the PLA1 family to human neurologic disease. [PUBLICATION ABSTRACT]</abstract><cop>Chicago</cop><pub>Cell Press</pub></addata></record> |
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| subjects | Enzymes Genetic disorders Genotype & phenotype Insects Mutation Neurological disorders NMR Nuclear magnetic resonance |
| title | Mutations in DDHD2, Encoding an Intracellular Phospholipase A^sub 1^, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia |
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