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Introduction: The genetic basis of autosomal-recessive dystonia remains poorly understood. Our objective was to report identification of additional individuals with variants in AOPEP, a recently described gene for recessively inherited dystonic disorders (OMIM:619565).Methods: Ongoing analysis on a...
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Autor*in:	Garavaglia, Barbara [verfasserIn] Vallian, Sadeq [verfasserIn] Romito, Luigi M. [verfasserIn] Straccia, Giulia [verfasserIn] Capecci, Marianna [verfasserIn] Invernizzi, Federica [verfasserIn] Andrenelli, Elisa [verfasserIn] Kazemi, Arezu [verfasserIn] Boesch, Sylvia [verfasserIn] Kopajtich, Robert [verfasserIn] Olfati, Nahid [verfasserIn] Shariati, Mohammad [verfasserIn] Shoeibi, Ali [verfasserIn] Sadr-Nabavi, Ariane [verfasserIn] Prokisch, Holger [verfasserIn] Winkelmann, Juliane [verfasserIn] Zech, Michael [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2022

Schlagwörter:	Recessive dystonia Isolated dystonia Dystonia-parkinsonism Exome sequencing

Übergeordnetes Werk:	Enthalten in: Parkinsonism & related disorders - Amsterdam [u.a.] : Elsevier Science, 1995, 97, Seite 52-56
Übergeordnetes Werk:	volume:97 ; pages:52-56

DOI / URN:	10.1016/j.parkreldis.2022.03.007

Katalog-ID:	ELV057677972

Internformat


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520			\|a Introduction: The genetic basis of autosomal-recessive dystonia remains poorly understood. Our objective was to report identification of additional individuals with variants in AOPEP, a recently described gene for recessively inherited dystonic disorders (OMIM:619565).Methods: Ongoing analysis on a high-throughput genetic platform and international case-recruitment efforts were undertaken.Results: Novel biallelic, likely pathogenic loss-of-function alleles were identified in two pedigrees of different ethnic background. Two members of a consanguineous Iranian family shared a homozygous c.1917-1G>A essential splice-site variant and featured presentations of adolescence-onset generalized dystonia. An individual of Chinese descent, homozygous for the nonsense variant c.1909G>T (p.Glu637*), displayed childhood-onset generalized dystonia combined with later-manifesting parkinsonism. One additional Iranian patient with adolescence-onset generalized dystonia carried an ultrarare, likely protein-damaging homozygous missense variant (c.1201C>T [p.Arg401Trp]).Conclusions: These findings support the implication of AOPEP in recessive forms of generalized dystonia and dystonia-parkinsonism. Biallelic AOPEP variants represent a worldwide cause of dystonic movement-disorder phenotypes and should be considered in dystonia molecular testing approaches.
650		4	\|a Recessive dystonia
650		4	\|a Isolated dystonia
650		4	\|a Dystonia-parkinsonism
650		4	\|a Exome sequencing
700	1		\|a Vallian, Sadeq \|e verfasserin \|4 aut
700	1		\|a Romito, Luigi M. \|e verfasserin \|4 aut
700	1		\|a Straccia, Giulia \|e verfasserin \|4 aut
700	1		\|a Capecci, Marianna \|e verfasserin \|4 aut
700	1		\|a Invernizzi, Federica \|e verfasserin \|4 aut
700	1		\|a Andrenelli, Elisa \|e verfasserin \|4 aut
700	1		\|a Kazemi, Arezu \|e verfasserin \|4 aut
700	1		\|a Boesch, Sylvia \|e verfasserin \|4 aut
700	1		\|a Kopajtich, Robert \|e verfasserin \|4 aut
700	1		\|a Olfati, Nahid \|e verfasserin \|4 aut
700	1		\|a Shariati, Mohammad \|e verfasserin \|4 aut
700	1		\|a Shoeibi, Ali \|e verfasserin \|4 aut
700	1		\|a Sadr-Nabavi, Ariane \|e verfasserin \|4 aut
700	1		\|a Prokisch, Holger \|e verfasserin \|4 aut
700	1		\|a Winkelmann, Juliane \|e verfasserin \|4 aut
700	1		\|a Zech, Michael \|e verfasserin \|4 aut
773	0	8	\|i Enthalten in \|t Parkinsonism & related disorders \|d Amsterdam [u.a.] : Elsevier Science, 1995 \|g 97, Seite 52-56 \|h Online-Ressource \|w (DE-627)32448898X \|w (DE-600)2027635-7 \|w (DE-576)272349704 \|x 1873-5126 \|7 nnns
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912			\|a GBV_ILN_4323
912			\|a GBV_ILN_4324
912			\|a GBV_ILN_4325
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912			\|a GBV_ILN_4333
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936	b	k	\|a 44.90 \|j Neurologie \|q VZ
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allfields	10.1016/j.parkreldis.2022.03.007 doi (DE-627)ELV057677972 (ELSEVIER)S1353-8020(22)00065-7 DE-627 ger DE-627 rda eng 610 VZ 44.90 bkl Garavaglia, Barbara verfasserin aut 2022 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: The genetic basis of autosomal-recessive dystonia remains poorly understood. Our objective was to report identification of additional individuals with variants in AOPEP, a recently described gene for recessively inherited dystonic disorders (OMIM:619565).Methods: Ongoing analysis on a high-throughput genetic platform and international case-recruitment efforts were undertaken.Results: Novel biallelic, likely pathogenic loss-of-function alleles were identified in two pedigrees of different ethnic background. Two members of a consanguineous Iranian family shared a homozygous c.1917-1G>A essential splice-site variant and featured presentations of adolescence-onset generalized dystonia. An individual of Chinese descent, homozygous for the nonsense variant c.1909G>T (p.Glu637*), displayed childhood-onset generalized dystonia combined with later-manifesting parkinsonism. One additional Iranian patient with adolescence-onset generalized dystonia carried an ultrarare, likely protein-damaging homozygous missense variant (c.1201C>T [p.Arg401Trp]).Conclusions: These findings support the implication of AOPEP in recessive forms of generalized dystonia and dystonia-parkinsonism. Biallelic AOPEP variants represent a worldwide cause of dystonic movement-disorder phenotypes and should be considered in dystonia molecular testing approaches. Recessive dystonia Isolated dystonia Dystonia-parkinsonism Exome sequencing Vallian, Sadeq verfasserin aut Romito, Luigi M. verfasserin aut Straccia, Giulia verfasserin aut Capecci, Marianna verfasserin aut Invernizzi, Federica verfasserin aut Andrenelli, Elisa verfasserin aut Kazemi, Arezu verfasserin aut Boesch, Sylvia verfasserin aut Kopajtich, Robert verfasserin aut Olfati, Nahid verfasserin aut Shariati, Mohammad verfasserin aut Shoeibi, Ali verfasserin aut Sadr-Nabavi, Ariane verfasserin aut Prokisch, Holger verfasserin aut Winkelmann, Juliane verfasserin aut Zech, Michael verfasserin aut Enthalten in Parkinsonism & related disorders Amsterdam [u.a.] : Elsevier Science, 1995 97, Seite 52-56 Online-Ressource (DE-627)32448898X (DE-600)2027635-7 (DE-576)272349704 1873-5126 nnns volume:97 pages:52-56 GBV_USEFLAG_U GBV_ELV SYSFLAG_U GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.90 Neurologie VZ AR 97 52-56
spelling	10.1016/j.parkreldis.2022.03.007 doi (DE-627)ELV057677972 (ELSEVIER)S1353-8020(22)00065-7 DE-627 ger DE-627 rda eng 610 VZ 44.90 bkl Garavaglia, Barbara verfasserin aut 2022 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: The genetic basis of autosomal-recessive dystonia remains poorly understood. Our objective was to report identification of additional individuals with variants in AOPEP, a recently described gene for recessively inherited dystonic disorders (OMIM:619565).Methods: Ongoing analysis on a high-throughput genetic platform and international case-recruitment efforts were undertaken.Results: Novel biallelic, likely pathogenic loss-of-function alleles were identified in two pedigrees of different ethnic background. Two members of a consanguineous Iranian family shared a homozygous c.1917-1G>A essential splice-site variant and featured presentations of adolescence-onset generalized dystonia. An individual of Chinese descent, homozygous for the nonsense variant c.1909G>T (p.Glu637*), displayed childhood-onset generalized dystonia combined with later-manifesting parkinsonism. One additional Iranian patient with adolescence-onset generalized dystonia carried an ultrarare, likely protein-damaging homozygous missense variant (c.1201C>T [p.Arg401Trp]).Conclusions: These findings support the implication of AOPEP in recessive forms of generalized dystonia and dystonia-parkinsonism. Biallelic AOPEP variants represent a worldwide cause of dystonic movement-disorder phenotypes and should be considered in dystonia molecular testing approaches. Recessive dystonia Isolated dystonia Dystonia-parkinsonism Exome sequencing Vallian, Sadeq verfasserin aut Romito, Luigi M. verfasserin aut Straccia, Giulia verfasserin aut Capecci, Marianna verfasserin aut Invernizzi, Federica verfasserin aut Andrenelli, Elisa verfasserin aut Kazemi, Arezu verfasserin aut Boesch, Sylvia verfasserin aut Kopajtich, Robert verfasserin aut Olfati, Nahid verfasserin aut Shariati, Mohammad verfasserin aut Shoeibi, Ali verfasserin aut Sadr-Nabavi, Ariane verfasserin aut Prokisch, Holger verfasserin aut Winkelmann, Juliane verfasserin aut Zech, Michael verfasserin aut Enthalten in Parkinsonism & related disorders Amsterdam [u.a.] : Elsevier Science, 1995 97, Seite 52-56 Online-Ressource (DE-627)32448898X (DE-600)2027635-7 (DE-576)272349704 1873-5126 nnns volume:97 pages:52-56 GBV_USEFLAG_U GBV_ELV SYSFLAG_U GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.90 Neurologie VZ AR 97 52-56
allfields_unstemmed	10.1016/j.parkreldis.2022.03.007 doi (DE-627)ELV057677972 (ELSEVIER)S1353-8020(22)00065-7 DE-627 ger DE-627 rda eng 610 VZ 44.90 bkl Garavaglia, Barbara verfasserin aut 2022 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: The genetic basis of autosomal-recessive dystonia remains poorly understood. Our objective was to report identification of additional individuals with variants in AOPEP, a recently described gene for recessively inherited dystonic disorders (OMIM:619565).Methods: Ongoing analysis on a high-throughput genetic platform and international case-recruitment efforts were undertaken.Results: Novel biallelic, likely pathogenic loss-of-function alleles were identified in two pedigrees of different ethnic background. Two members of a consanguineous Iranian family shared a homozygous c.1917-1G>A essential splice-site variant and featured presentations of adolescence-onset generalized dystonia. An individual of Chinese descent, homozygous for the nonsense variant c.1909G>T (p.Glu637*), displayed childhood-onset generalized dystonia combined with later-manifesting parkinsonism. One additional Iranian patient with adolescence-onset generalized dystonia carried an ultrarare, likely protein-damaging homozygous missense variant (c.1201C>T [p.Arg401Trp]).Conclusions: These findings support the implication of AOPEP in recessive forms of generalized dystonia and dystonia-parkinsonism. Biallelic AOPEP variants represent a worldwide cause of dystonic movement-disorder phenotypes and should be considered in dystonia molecular testing approaches. Recessive dystonia Isolated dystonia Dystonia-parkinsonism Exome sequencing Vallian, Sadeq verfasserin aut Romito, Luigi M. verfasserin aut Straccia, Giulia verfasserin aut Capecci, Marianna verfasserin aut Invernizzi, Federica verfasserin aut Andrenelli, Elisa verfasserin aut Kazemi, Arezu verfasserin aut Boesch, Sylvia verfasserin aut Kopajtich, Robert verfasserin aut Olfati, Nahid verfasserin aut Shariati, Mohammad verfasserin aut Shoeibi, Ali verfasserin aut Sadr-Nabavi, Ariane verfasserin aut Prokisch, Holger verfasserin aut Winkelmann, Juliane verfasserin aut Zech, Michael verfasserin aut Enthalten in Parkinsonism & related disorders Amsterdam [u.a.] : Elsevier Science, 1995 97, Seite 52-56 Online-Ressource (DE-627)32448898X (DE-600)2027635-7 (DE-576)272349704 1873-5126 nnns volume:97 pages:52-56 GBV_USEFLAG_U GBV_ELV SYSFLAG_U GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.90 Neurologie VZ AR 97 52-56
allfieldsGer	10.1016/j.parkreldis.2022.03.007 doi (DE-627)ELV057677972 (ELSEVIER)S1353-8020(22)00065-7 DE-627 ger DE-627 rda eng 610 VZ 44.90 bkl Garavaglia, Barbara verfasserin aut 2022 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: The genetic basis of autosomal-recessive dystonia remains poorly understood. Our objective was to report identification of additional individuals with variants in AOPEP, a recently described gene for recessively inherited dystonic disorders (OMIM:619565).Methods: Ongoing analysis on a high-throughput genetic platform and international case-recruitment efforts were undertaken.Results: Novel biallelic, likely pathogenic loss-of-function alleles were identified in two pedigrees of different ethnic background. Two members of a consanguineous Iranian family shared a homozygous c.1917-1G>A essential splice-site variant and featured presentations of adolescence-onset generalized dystonia. An individual of Chinese descent, homozygous for the nonsense variant c.1909G>T (p.Glu637*), displayed childhood-onset generalized dystonia combined with later-manifesting parkinsonism. One additional Iranian patient with adolescence-onset generalized dystonia carried an ultrarare, likely protein-damaging homozygous missense variant (c.1201C>T [p.Arg401Trp]).Conclusions: These findings support the implication of AOPEP in recessive forms of generalized dystonia and dystonia-parkinsonism. Biallelic AOPEP variants represent a worldwide cause of dystonic movement-disorder phenotypes and should be considered in dystonia molecular testing approaches. Recessive dystonia Isolated dystonia Dystonia-parkinsonism Exome sequencing Vallian, Sadeq verfasserin aut Romito, Luigi M. verfasserin aut Straccia, Giulia verfasserin aut Capecci, Marianna verfasserin aut Invernizzi, Federica verfasserin aut Andrenelli, Elisa verfasserin aut Kazemi, Arezu verfasserin aut Boesch, Sylvia verfasserin aut Kopajtich, Robert verfasserin aut Olfati, Nahid verfasserin aut Shariati, Mohammad verfasserin aut Shoeibi, Ali verfasserin aut Sadr-Nabavi, Ariane verfasserin aut Prokisch, Holger verfasserin aut Winkelmann, Juliane verfasserin aut Zech, Michael verfasserin aut Enthalten in Parkinsonism & related disorders Amsterdam [u.a.] : Elsevier Science, 1995 97, Seite 52-56 Online-Ressource (DE-627)32448898X (DE-600)2027635-7 (DE-576)272349704 1873-5126 nnns volume:97 pages:52-56 GBV_USEFLAG_U GBV_ELV SYSFLAG_U GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.90 Neurologie VZ AR 97 52-56
allfieldsSound	10.1016/j.parkreldis.2022.03.007 doi (DE-627)ELV057677972 (ELSEVIER)S1353-8020(22)00065-7 DE-627 ger DE-627 rda eng 610 VZ 44.90 bkl Garavaglia, Barbara verfasserin aut 2022 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: The genetic basis of autosomal-recessive dystonia remains poorly understood. Our objective was to report identification of additional individuals with variants in AOPEP, a recently described gene for recessively inherited dystonic disorders (OMIM:619565).Methods: Ongoing analysis on a high-throughput genetic platform and international case-recruitment efforts were undertaken.Results: Novel biallelic, likely pathogenic loss-of-function alleles were identified in two pedigrees of different ethnic background. Two members of a consanguineous Iranian family shared a homozygous c.1917-1G>A essential splice-site variant and featured presentations of adolescence-onset generalized dystonia. An individual of Chinese descent, homozygous for the nonsense variant c.1909G>T (p.Glu637*), displayed childhood-onset generalized dystonia combined with later-manifesting parkinsonism. One additional Iranian patient with adolescence-onset generalized dystonia carried an ultrarare, likely protein-damaging homozygous missense variant (c.1201C>T [p.Arg401Trp]).Conclusions: These findings support the implication of AOPEP in recessive forms of generalized dystonia and dystonia-parkinsonism. Biallelic AOPEP variants represent a worldwide cause of dystonic movement-disorder phenotypes and should be considered in dystonia molecular testing approaches. Recessive dystonia Isolated dystonia Dystonia-parkinsonism Exome sequencing Vallian, Sadeq verfasserin aut Romito, Luigi M. verfasserin aut Straccia, Giulia verfasserin aut Capecci, Marianna verfasserin aut Invernizzi, Federica verfasserin aut Andrenelli, Elisa verfasserin aut Kazemi, Arezu verfasserin aut Boesch, Sylvia verfasserin aut Kopajtich, Robert verfasserin aut Olfati, Nahid verfasserin aut Shariati, Mohammad verfasserin aut Shoeibi, Ali verfasserin aut Sadr-Nabavi, Ariane verfasserin aut Prokisch, Holger verfasserin aut Winkelmann, Juliane verfasserin aut Zech, Michael verfasserin aut Enthalten in Parkinsonism & related disorders Amsterdam [u.a.] : Elsevier Science, 1995 97, Seite 52-56 Online-Ressource (DE-627)32448898X (DE-600)2027635-7 (DE-576)272349704 1873-5126 nnns volume:97 pages:52-56 GBV_USEFLAG_U GBV_ELV SYSFLAG_U GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.90 Neurologie VZ AR 97 52-56
language	English
source	Enthalten in Parkinsonism & related disorders 97, Seite 52-56 volume:97 pages:52-56
sourceStr	Enthalten in Parkinsonism & related disorders 97, Seite 52-56 volume:97 pages:52-56
format_phy_str_mv	Article
bklname	Neurologie
institution	findex.gbv.de
topic_facet	Recessive dystonia Isolated dystonia Dystonia-parkinsonism Exome sequencing
dewey-raw	610
isfreeaccess_bool	false
container_title	Parkinsonism & related disorders
authorswithroles_txt_mv	Garavaglia, Barbara @@aut@@ Vallian, Sadeq @@aut@@ Romito, Luigi M. @@aut@@ Straccia, Giulia @@aut@@ Capecci, Marianna @@aut@@ Invernizzi, Federica @@aut@@ Andrenelli, Elisa @@aut@@ Kazemi, Arezu @@aut@@ Boesch, Sylvia @@aut@@ Kopajtich, Robert @@aut@@ Olfati, Nahid @@aut@@ Shariati, Mohammad @@aut@@ Shoeibi, Ali @@aut@@ Sadr-Nabavi, Ariane @@aut@@ Prokisch, Holger @@aut@@ Winkelmann, Juliane @@aut@@ Zech, Michael @@aut@@
publishDateDaySort_date	2022-01-01T00:00:00Z
hierarchy_top_id	32448898X
dewey-sort	3610
id	ELV057677972
language_de	englisch
fullrecord	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">ELV057677972</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20231109093221.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">220808s2022 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1016/j.parkreldis.2022.03.007</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)ELV057677972</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(ELSEVIER)S1353-8020(22)00065-7</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rda</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">44.90</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Garavaglia, Barbara</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2022</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zzz</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Introduction: The genetic basis of autosomal-recessive dystonia remains poorly understood. 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One additional Iranian patient with adolescence-onset generalized dystonia carried an ultrarare, likely protein-damaging homozygous missense variant (c.1201C>T [p.Arg401Trp]).Conclusions: These findings support the implication of AOPEP in recessive forms of generalized dystonia and dystonia-parkinsonism. 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author	Garavaglia, Barbara
spellingShingle	Garavaglia, Barbara ddc 610 bkl 44.90 misc Recessive dystonia misc Isolated dystonia misc Dystonia-parkinsonism misc Exome sequencing
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topic_title	610 VZ 44.90 bkl Recessive dystonia Isolated dystonia Dystonia-parkinsonism Exome sequencing
topic	ddc 610 bkl 44.90 misc Recessive dystonia misc Isolated dystonia misc Dystonia-parkinsonism misc Exome sequencing
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author_browse	Garavaglia, Barbara Vallian, Sadeq Romito, Luigi M. Straccia, Giulia Capecci, Marianna Invernizzi, Federica Andrenelli, Elisa Kazemi, Arezu Boesch, Sylvia Kopajtich, Robert Olfati, Nahid Shariati, Mohammad Shoeibi, Ali Sadr-Nabavi, Ariane Prokisch, Holger Winkelmann, Juliane Zech, Michael
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author-letter	Garavaglia, Barbara
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abstract	Introduction: The genetic basis of autosomal-recessive dystonia remains poorly understood. Our objective was to report identification of additional individuals with variants in AOPEP, a recently described gene for recessively inherited dystonic disorders (OMIM:619565).Methods: Ongoing analysis on a high-throughput genetic platform and international case-recruitment efforts were undertaken.Results: Novel biallelic, likely pathogenic loss-of-function alleles were identified in two pedigrees of different ethnic background. Two members of a consanguineous Iranian family shared a homozygous c.1917-1G>A essential splice-site variant and featured presentations of adolescence-onset generalized dystonia. An individual of Chinese descent, homozygous for the nonsense variant c.1909G>T (p.Glu637*), displayed childhood-onset generalized dystonia combined with later-manifesting parkinsonism. One additional Iranian patient with adolescence-onset generalized dystonia carried an ultrarare, likely protein-damaging homozygous missense variant (c.1201C>T [p.Arg401Trp]).Conclusions: These findings support the implication of AOPEP in recessive forms of generalized dystonia and dystonia-parkinsonism. Biallelic AOPEP variants represent a worldwide cause of dystonic movement-disorder phenotypes and should be considered in dystonia molecular testing approaches.
abstractGer	Introduction: The genetic basis of autosomal-recessive dystonia remains poorly understood. Our objective was to report identification of additional individuals with variants in AOPEP, a recently described gene for recessively inherited dystonic disorders (OMIM:619565).Methods: Ongoing analysis on a high-throughput genetic platform and international case-recruitment efforts were undertaken.Results: Novel biallelic, likely pathogenic loss-of-function alleles were identified in two pedigrees of different ethnic background. Two members of a consanguineous Iranian family shared a homozygous c.1917-1G>A essential splice-site variant and featured presentations of adolescence-onset generalized dystonia. An individual of Chinese descent, homozygous for the nonsense variant c.1909G>T (p.Glu637*), displayed childhood-onset generalized dystonia combined with later-manifesting parkinsonism. One additional Iranian patient with adolescence-onset generalized dystonia carried an ultrarare, likely protein-damaging homozygous missense variant (c.1201C>T [p.Arg401Trp]).Conclusions: These findings support the implication of AOPEP in recessive forms of generalized dystonia and dystonia-parkinsonism. Biallelic AOPEP variants represent a worldwide cause of dystonic movement-disorder phenotypes and should be considered in dystonia molecular testing approaches.
abstract_unstemmed	Introduction: The genetic basis of autosomal-recessive dystonia remains poorly understood. Our objective was to report identification of additional individuals with variants in AOPEP, a recently described gene for recessively inherited dystonic disorders (OMIM:619565).Methods: Ongoing analysis on a high-throughput genetic platform and international case-recruitment efforts were undertaken.Results: Novel biallelic, likely pathogenic loss-of-function alleles were identified in two pedigrees of different ethnic background. Two members of a consanguineous Iranian family shared a homozygous c.1917-1G>A essential splice-site variant and featured presentations of adolescence-onset generalized dystonia. An individual of Chinese descent, homozygous for the nonsense variant c.1909G>T (p.Glu637*), displayed childhood-onset generalized dystonia combined with later-manifesting parkinsonism. One additional Iranian patient with adolescence-onset generalized dystonia carried an ultrarare, likely protein-damaging homozygous missense variant (c.1201C>T [p.Arg401Trp]).Conclusions: These findings support the implication of AOPEP in recessive forms of generalized dystonia and dystonia-parkinsonism. Biallelic AOPEP variants represent a worldwide cause of dystonic movement-disorder phenotypes and should be considered in dystonia molecular testing approaches.
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author2	Vallian, Sadeq Romito, Luigi M. Straccia, Giulia Capecci, Marianna Invernizzi, Federica Andrenelli, Elisa Kazemi, Arezu Boesch, Sylvia Kopajtich, Robert Olfati, Nahid Shariati, Mohammad Shoeibi, Ali Sadr-Nabavi, Ariane Prokisch, Holger Winkelmann, Juliane Zech, Michael
author2Str	Vallian, Sadeq Romito, Luigi M. Straccia, Giulia Capecci, Marianna Invernizzi, Federica Andrenelli, Elisa Kazemi, Arezu Boesch, Sylvia Kopajtich, Robert Olfati, Nahid Shariati, Mohammad Shoeibi, Ali Sadr-Nabavi, Ariane Prokisch, Holger Winkelmann, Juliane Zech, Michael
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doi_str	10.1016/j.parkreldis.2022.03.007
up_date	2024-07-06T16:50:42.776Z
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Our objective was to report identification of additional individuals with variants in AOPEP, a recently described gene for recessively inherited dystonic disorders (OMIM:619565).Methods: Ongoing analysis on a high-throughput genetic platform and international case-recruitment efforts were undertaken.Results: Novel biallelic, likely pathogenic loss-of-function alleles were identified in two pedigrees of different ethnic background. Two members of a consanguineous Iranian family shared a homozygous c.1917-1G>A essential splice-site variant and featured presentations of adolescence-onset generalized dystonia. An individual of Chinese descent, homozygous for the nonsense variant c.1909G>T (p.Glu637*), displayed childhood-onset generalized dystonia combined with later-manifesting parkinsonism. One additional Iranian patient with adolescence-onset generalized dystonia carried an ultrarare, likely protein-damaging homozygous missense variant (c.1201C>T [p.Arg401Trp]).Conclusions: These findings support the implication of AOPEP in recessive forms of generalized dystonia and dystonia-parkinsonism. 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