{"id":"https://openalex.org/W2811389180","doi":"https://doi.org/10.3233/jpd-181360","title":"Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation","display_name":"Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation","publication_year":2018,"publication_date":"2018-06-05","ids":{"openalex":"https://openalex.org/W2811389180","doi":"https://doi.org/10.3233/jpd-181360","mag":"2811389180","pmid":"https://pubmed.ncbi.nlm.nih.gov/29966207"},"language":"en","primary_location":{"id":"doi:10.3233/jpd-181360","doi":"https://doi.org/10.3233/jpd-181360","is_oa":true,"landing_page_url":"https://doi.org/10.3233/jpd-181360","pdf_url":"https://content.iospress.com:443/download/journal-of-parkinsons-disease/jpd181360?id=journal-of-parkinsons-disease%2Fjpd181360","source":{"id":"https://openalex.org/S2764943606","display_name":"Journal of Parkinson s Disease","issn_l":"1877-7171","issn":["1877-7171","1877-718X"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Parkinson\u2019s Disease","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://content.iospress.com:443/download/journal-of-parkinsons-disease/jpd181360?id=journal-of-parkinsons-disease%2Fjpd181360","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5050747712","display_name":"Rivka Inzelberg","orcid":"https://orcid.org/0000-0002-0720-0502","observed_orcids":["https://orcid.org/0000-0002-0720-0502"]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]}],"countries":["IL"],"is_corresponding":true,"raw_author_name":"Rivka Inzelberg","raw_affiliation_strings":["Departments of Neurology and Neurosurgery, Tel Aviv University, Tel Aviv, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Neurology and Neurosurgery, Tel Aviv University, Tel Aviv, Israel","institution_ids":["https://openalex.org/I16391192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089471245","display_name":"Alejandro Estrada\u2010Cuzcano","orcid":"https://orcid.org/0000-0001-9868-2465","observed_orcids":["https://orcid.org/0000-0001-9868-2465"]},"institutions":[{"id":"https://openalex.org/I149213910","display_name":"University of Antwerp","ror":"https://ror.org/008x57b05","country_code":"BE","type":"education","lineage":["https://openalex.org/I149213910"]},{"id":"https://openalex.org/I4210132484","display_name":"VIB-UAntwerp Center for Molecular Neurology","ror":"https://ror.org/041x7eh14","country_code":"BE","type":"facility","lineage":["https://openalex.org/I149213910","https://openalex.org/I2802017950","https://openalex.org/I4210132484"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Alejandro Estrada-Cuzcano","raw_affiliation_strings":["Molecular Neurogenomics Group, VIB Center for Molecular Neurology, University of Antwerp, Antwerpen, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Neurogenomics Group, VIB Center for Molecular Neurology, University of Antwerp, Antwerpen, Belgium","institution_ids":["https://openalex.org/I149213910","https://openalex.org/I4210132484"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107839689","display_name":"Yael Laitman","orcid":"https://orcid.org/0000-0001-7338-0233","observed_orcids":["https://orcid.org/0000-0001-7338-0233"]},"institutions":[{"id":"https://openalex.org/I2799810450","display_name":"Sheba Medical Center","ror":"https://ror.org/020rzx487","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799810450"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Yael Laitman","raw_affiliation_strings":["The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel","institution_ids":["https://openalex.org/I2799810450"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058905777","display_name":"Els De Vriendt","orcid":"https://orcid.org/0000-0002-1464-3846","observed_orcids":["https://orcid.org/0000-0002-1464-3846"]},"institutions":[{"id":"https://openalex.org/I149213910","display_name":"University of Antwerp","ror":"https://ror.org/008x57b05","country_code":"BE","type":"education","lineage":["https://openalex.org/I149213910"]},{"id":"https://openalex.org/I4210132484","display_name":"VIB-UAntwerp Center for Molecular Neurology","ror":"https://ror.org/041x7eh14","country_code":"BE","type":"facility","lineage":["https://openalex.org/I149213910","https://openalex.org/I2802017950","https://openalex.org/I4210132484"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Els De Vriendt","raw_affiliation_strings":["Molecular Neurogenomics Group, VIB Center for Molecular Neurology, University of Antwerp, Antwerpen, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Neurogenomics Group, VIB Center for Molecular Neurology, University of Antwerp, Antwerpen, Belgium","institution_ids":["https://openalex.org/I149213910","https://openalex.org/I4210132484"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031247002","display_name":"Eitan Friedman","orcid":"https://orcid.org/0000-0002-6745-1733","observed_orcids":["https://orcid.org/0000-0002-6745-1733"]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I2799810450","display_name":"Sheba Medical Center","ror":"https://ror.org/020rzx487","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799810450"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Eitan Friedman","raw_affiliation_strings":["Departments of Internal Medicine and Genetics and Biochemistry Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel","The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Internal Medicine and Genetics and Biochemistry Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel","institution_ids":["https://openalex.org/I16391192"]},{"raw_affiliation_string":"The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel","institution_ids":["https://openalex.org/I2799810450"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5070595327","display_name":"Albena Jordanova","orcid":"https://orcid.org/0000-0002-3833-3754","observed_orcids":["https://orcid.org/0000-0002-3833-3754"]},"institutions":[{"id":"https://openalex.org/I149213910","display_name":"University of Antwerp","ror":"https://ror.org/008x57b05","country_code":"BE","type":"education","lineage":["https://openalex.org/I149213910"]},{"id":"https://openalex.org/I4210132484","display_name":"VIB-UAntwerp Center for Molecular Neurology","ror":"https://ror.org/041x7eh14","country_code":"BE","type":"facility","lineage":["https://openalex.org/I149213910","https://openalex.org/I2802017950","https://openalex.org/I4210132484"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Albena Jordanova","raw_affiliation_strings":["Molecular Neurogenomics Group, VIB Center for Molecular Neurology, University of Antwerp, Antwerpen, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Neurogenomics Group, VIB Center for Molecular Neurology, University of Antwerp, Antwerpen, Belgium","institution_ids":["https://openalex.org/I149213910","https://openalex.org/I4210132484"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5050747712"],"corresponding_institution_ids":["https://openalex.org/I16391192"],"apc_list":null,"apc_paid":null,"fwci":1.0165,"has_fulltext":true,"cited_by_count":14,"citation_normalized_percentile":{"value":0.74964306,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"8","issue":"3","first_page":"399","last_page":"403"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10085","display_name":"Parkinson's Disease Mechanisms and Treatments","score":0.9854000210762024,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10085","display_name":"Parkinson's Disease Mechanisms and Treatments","score":0.9854000210762024,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.0026000000070780516,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T13481","display_name":"Neurological diseases and metabolism","score":0.002099999925121665,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/kufor-rakeb-syndrome","display_name":"Kufor-Rakeb syndrome","score":0.9980000257492065},{"id":"https://openalex.org/keywords/park9","display_name":"PARK9","score":0.984000027179718},{"id":"https://openalex.org/keywords/atp13a2","display_name":"ATP13A2","score":0.9810000061988831},{"id":"https://openalex.org/keywords/early-onset-parkinson-s-disease","display_name":"early-onset Parkinson's disease","score":0.9240000247955322},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.8870000243186951},{"id":"https://openalex.org/keywords/ashkenazi-jewish-population","display_name":"Ashkenazi Jewish population","score":0.7730000019073486},{"id":"https://openalex.org/keywords/allele-frequency","display_name":"allele frequency","score":0.8140000104904175},{"id":"https://openalex.org/keywords/spastic-paraparesis","display_name":"spastic paraparesis","score":0.9380000233650208},{"id":"https://openalex.org/keywords/facial-myokymia","display_name":"facial myokymia","score":0.8320000171661377}],"concepts":[{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.7750499248504639},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6950420141220093},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6272448897361755},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.5112509727478027},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.367641806602478},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.36556705832481384},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3409545421600342}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006180","descriptor_name":"Proton-Translocating ATPases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020734","descriptor_name":"Parkinsonian Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D035781","descriptor_name":"Siblings","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.3233/jpd-181360","doi":"https://doi.org/10.3233/jpd-181360","is_oa":true,"landing_page_url":"https://doi.org/10.3233/jpd-181360","pdf_url":"https://content.iospress.com:443/download/journal-of-parkinsons-disease/jpd181360?id=journal-of-parkinsons-disease%2Fjpd181360","source":{"id":"https://openalex.org/S2764943606","display_name":"Journal of Parkinson s Disease","issn_l":"1877-7171","issn":["1877-7171","1877-718X"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Parkinson\u2019s Disease","raw_type":"journal-article"},{"id":"pmid:29966207","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29966207","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Parkinson's disease","raw_type":"Case Reports"},{"id":"pmh:oai:doaj.org/article:ff2a2f4723ca4f1c97d7e297e4b98106","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/ff2a2f4723ca4f1c97d7e297e4b98106","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of Parkinson\u2019s Disease, Vol 8 (2018)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.3233/jpd-181360","doi":"https://doi.org/10.3233/jpd-181360","is_oa":true,"landing_page_url":"https://doi.org/10.3233/jpd-181360","pdf_url":"https://content.iospress.com:443/download/journal-of-parkinsons-disease/jpd181360?id=journal-of-parkinsons-disease%2Fjpd181360","source":{"id":"https://openalex.org/S2764943606","display_name":"Journal of Parkinson s Disease","issn_l":"1877-7171","issn":["1877-7171","1877-718X"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Parkinson\u2019s Disease","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"display_name":"Good health and well-being","score":0.7300000190734863,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2811389180.pdf","grobid_xml":"https://content.openalex.org/works/W2811389180.grobid-xml"},"referenced_works_count":17,"referenced_works":["https://openalex.org/W1561899360","https://openalex.org/W1660083296","https://openalex.org/W2019864398","https://openalex.org/W2020427460","https://openalex.org/W2045686278","https://openalex.org/W2059242980","https://openalex.org/W2084420014","https://openalex.org/W2101615317","https://openalex.org/W2111964251","https://openalex.org/W2118664033","https://openalex.org/W2134587443","https://openalex.org/W2139369185","https://openalex.org/W2140427632","https://openalex.org/W2145515423","https://openalex.org/W2534210382","https://openalex.org/W2580538885","https://openalex.org/W2590824287"],"related_works":["https://openalex.org/W1964148177","https://openalex.org/W1970257561","https://openalex.org/W2039098889","https://openalex.org/W2140427632","https://openalex.org/W7164174198","https://openalex.org/W1967563591","https://openalex.org/W2075478818","https://openalex.org/W4416308475","https://openalex.org/W4389465325","https://openalex.org/W2121839943"],"abstract_inverted_index":{"Kufor-Rakeb":[0],"syndrome":[1],"(KRS)/PARK9":[2],"presents":[3],"with":[4],"autosomal":[5],"recessive":[6],"young":[7],"onset":[8],"Parkinson's":[9],"disease":[10],"(YOPD),":[11],"spastic":[12],"paraparesis,":[13],"abnormal":[14],"eye":[15],"movements":[16],"and":[17,55,77,104],"facial":[18],"myokymia.":[19],"KRS":[20,41],"is":[21,102],"caused":[22],"by":[23],"homozygous/compound":[24],"heterozygous":[25,49],"inactivating":[26],"mutations":[27],"in":[28,52,68,71,78,91,107,117],"ATP13A2.":[29],"Two":[30],"affected":[31],"siblings":[32],"(born":[33],"to":[34],"non-consanguineous":[35],"Jewish":[36],"parents)":[37],"presenting":[38],"a":[39],"similar":[40],"phenotype":[42],"(onset":[43],"age":[44],"27,":[45],"23),":[46],"carried":[47],"compound":[48],"pathogenic":[50],"variants":[51],"ATP13A2:":[53],"c.217_218insG":[54,100],"c.3057delC.":[56],"Allele":[57],"frequency":[58],"of":[59,121],"the":[60,79,118],"c.3057delC":[61,112],"mutation":[62,101,113],"was":[63],"about":[64],"100":[65],"times":[66],"higher":[67],"Ashkenazi":[69,122],"controls":[70,89,108],"our":[72],"study":[73],"(1/190":[74],"=":[75,85,94],"0.00526)":[76],"Genome":[80],"Aggregation":[81],"Database,":[82],"(GnomAD,":[83],"27/10132":[84],"0.002665)":[86],"versus":[87],"non-Ashkenazi":[88],"worldwide":[90],"GnomAD":[92],"(9/264566":[93],"0.000034018,":[95],"p":[96],"<":[97],"0.0001).":[98],"The":[99,111],"novel":[103],"not":[105],"found":[106],"or":[109],"GnomAD.":[110],"should":[114],"be":[115],"included":[116],"genetic":[119],"workup":[120],"YOPD":[123],"patients.":[124]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":4},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2018-07-10T00:00:00"}