{"id":"https://openalex.org/W1969006394","doi":"https://doi.org/10.1055/s-0028-1086535","title":"Chorea-Akanthozytose: Genetik und Verlauf von 106 Patienten","display_name":"Chorea-Akanthozytose: Genetik und Verlauf von 106 Patienten","publication_year":2008,"publication_date":"2008-09-01","ids":{"openalex":"https://openalex.org/W1969006394","doi":"https://doi.org/10.1055/s-0028-1086535","mag":"1969006394"},"language":"de","primary_location":{"id":"doi:10.1055/s-0028-1086535","doi":"https://doi.org/10.1055/s-0028-1086535","is_oa":false,"landing_page_url":"https://doi.org/10.1055/s-0028-1086535","pdf_url":null,"source":{"id":"https://openalex.org/S48308836","display_name":"Aktuelle Neurologie","issn_l":"0302-4350","issn":["0302-4350","1438-9428"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","norway-1","poland-20"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Aktuelle Neurologie","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5109107164","display_name":"B. Bader","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"B Bader","raw_affiliation_strings":["M\u00fcnchen; Darlinghurst, AUS; Oxford, UK; New York, USA","Darlinghurst, AUS","M\u00fcnchen","New York, USA","Oxford, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"M\u00fcnchen; Darlinghurst, AUS; Oxford, UK; New York, USA","institution_ids":[]},{"raw_affiliation_string":"Darlinghurst, AUS","institution_ids":[]},{"raw_affiliation_string":"M\u00fcnchen","institution_ids":[]},{"raw_affiliation_string":"New York, USA","institution_ids":[]},{"raw_affiliation_string":"Oxford, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046278904","display_name":"Carol Dobson\u2010Stone","orcid":"https://orcid.org/0000-0002-2211-0257","observed_orcids":["https://orcid.org/0000-0002-2211-0257"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C Dobson-Stone","raw_affiliation_strings":["M\u00fcnchen; Darlinghurst, AUS; Oxford, UK; New York, USA","Darlinghurst, AUS","M\u00fcnchen","New York, USA","Oxford, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"M\u00fcnchen; Darlinghurst, AUS; Oxford, UK; New York, USA","institution_ids":[]},{"raw_affiliation_string":"Darlinghurst, AUS","institution_ids":[]},{"raw_affiliation_string":"M\u00fcnchen","institution_ids":[]},{"raw_affiliation_string":"New York, USA","institution_ids":[]},{"raw_affiliation_string":"Oxford, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044103344","display_name":"Antonio Velayos\u2010Baeza","orcid":"https://orcid.org/0000-0002-7717-4477","observed_orcids":["https://orcid.org/0000-0002-7717-4477"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A Velayos-Baeza","raw_affiliation_strings":["M\u00fcnchen; Darlinghurst, AUS; Oxford, UK; New York, USA","Darlinghurst, AUS","M\u00fcnchen","New York, USA","Oxford, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"M\u00fcnchen; Darlinghurst, AUS; Oxford, UK; New York, USA","institution_ids":[]},{"raw_affiliation_string":"Darlinghurst, AUS","institution_ids":[]},{"raw_affiliation_string":"M\u00fcnchen","institution_ids":[]},{"raw_affiliation_string":"New York, USA","institution_ids":[]},{"raw_affiliation_string":"Oxford, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038938677","display_name":"Anthony P. Monaco","orcid":"https://orcid.org/0000-0001-7480-3197","observed_orcids":["https://orcid.org/0000-0001-7480-3197"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A Monaco","raw_affiliation_strings":["M\u00fcnchen; Darlinghurst, AUS; Oxford, UK; New York, USA","Darlinghurst, AUS","M\u00fcnchen","New York, USA","Oxford, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"M\u00fcnchen; Darlinghurst, AUS; Oxford, UK; New York, USA","institution_ids":[]},{"raw_affiliation_string":"Darlinghurst, AUS","institution_ids":[]},{"raw_affiliation_string":"M\u00fcnchen","institution_ids":[]},{"raw_affiliation_string":"New York, USA","institution_ids":[]},{"raw_affiliation_string":"Oxford, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"R Walker","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R Walker","raw_affiliation_strings":["M\u00fcnchen; Darlinghurst, AUS; Oxford, UK; New York, USA","Darlinghurst, AUS","M\u00fcnchen","New York, USA","Oxford, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"M\u00fcnchen; Darlinghurst, AUS; Oxford, UK; New York, USA","institution_ids":[]},{"raw_affiliation_string":"Darlinghurst, AUS","institution_ids":[]},{"raw_affiliation_string":"M\u00fcnchen","institution_ids":[]},{"raw_affiliation_string":"New York, USA","institution_ids":[]},{"raw_affiliation_string":"Oxford, UK","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5084389843","display_name":"Adrian Danek","orcid":"https://orcid.org/0000-0001-8857-5383","observed_orcids":["https://orcid.org/0000-0001-8857-5383"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A Danek","raw_affiliation_strings":["M\u00fcnchen; Darlinghurst, AUS; Oxford, UK; New York, USA","Darlinghurst, AUS","M\u00fcnchen","New York, USA","Oxford, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"M\u00fcnchen; Darlinghurst, AUS; Oxford, UK; New York, USA","institution_ids":[]},{"raw_affiliation_string":"Darlinghurst, AUS","institution_ids":[]},{"raw_affiliation_string":"M\u00fcnchen","institution_ids":[]},{"raw_affiliation_string":"New York, USA","institution_ids":[]},{"raw_affiliation_string":"Oxford, UK","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0737024,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"35","issue":"S 01","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.95169997215271,"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"}},"topics":[{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.95169997215271,"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.01140000019222498,"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":0.010499999858438969,"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/mutation-spectrum","display_name":"mutation spectrum","score":0.7630000114440918},{"id":"https://openalex.org/keywords/clinical-course","display_name":"clinical course","score":0.7179999947547913},{"id":"https://openalex.org/keywords/neuroacanthocytosis","display_name":"neuroacanthocytosis","score":0.6510000228881836},{"id":"https://openalex.org/keywords/serum-creatine-kinase","display_name":"serum creatine kinase","score":0.8029999732971191},{"id":"https://openalex.org/keywords/acanthocytes","display_name":"acanthocytes","score":0.6650000214576721},{"id":"https://openalex.org/keywords/epilepsy","display_name":"epilepsy","score":0.6060000061988831},{"id":"https://openalex.org/keywords/orofacial-dyskinesia","display_name":"orofacial dyskinesia","score":0.9139999747276306},{"id":"https://openalex.org/keywords/carbamazepine","display_name":"carbamazepine","score":0.9760000109672546},{"id":"https://openalex.org/keywords/valproic-acid","display_name":"valproic acid","score":0.9750000238418579},{"id":"https://openalex.org/keywords/treatment-response","display_name":"treatment response","score":0.32199999690055847},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.5979999899864197}],"concepts":[{"id":"https://openalex.org/C29456083","wikidata":"https://www.wikidata.org/wiki/Q1221899","display_name":"Gynecology","level":1,"score":0.6652007102966309},{"id":"https://openalex.org/C2778868616","wikidata":"https://www.wikidata.org/wiki/Q1076421","display_name":"Chorea","level":3,"score":0.5760648250579834},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5619060397148132},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.1932854950428009},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.051254838705062866}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1055/s-0028-1086535","doi":"https://doi.org/10.1055/s-0028-1086535","is_oa":false,"landing_page_url":"https://doi.org/10.1055/s-0028-1086535","pdf_url":null,"source":{"id":"https://openalex.org/S48308836","display_name":"Aktuelle Neurologie","issn_l":"0302-4350","issn":["0302-4350","1438-9428"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","norway-1","poland-20"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Aktuelle Neurologie","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.98580002784729,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2315686442","https://openalex.org/W1988818536","https://openalex.org/W7118123194","https://openalex.org/W1972406416","https://openalex.org/W4220839725","https://openalex.org/W2110125683","https://openalex.org/W2261920119","https://openalex.org/W3012822926","https://openalex.org/W4388840079","https://openalex.org/W2085101045"],"abstract_inverted_index":{"Fragestellung:":[0],"Im":[1],"Rahmen":[2,79],"der":[3,32,42,116,151,157,161,172,192,213,244,282],"Differentialdiagnostik":[4],"des":[5,53,271],"Morbus":[6],"Huntington":[7],"spielen":[8],"Neuroakanthozytosesyndrome":[9],"eine":[10,159,205],"wichtige":[11],"Rolle.":[12],"Die":[13,58,108,233,261],"autosomal":[14],"rezessive":[15],"Chorea-Akanthozytose":[16],"(ChAc,":[17],"OMIM":[18],"#200150)":[19],"stellt":[20],"die":[21,50,127,199,288,292],"h\u00e4ufigste":[22],"Erkrankung":[23,128],"innerhalb":[24],"dieser":[25],"Gruppe":[26],"dar.":[27],"Anhand":[28,175],"einer":[29,80],"systematischen":[30],"Auswertung":[31],"Daten":[33,92],"von":[34,62,147,164,176,274,279,300],"106":[35],"genetisch":[36],"gesicherten":[37],"ChAc":[38,148,234],"Patienten":[39,69,158],"l\u00e4sst":[40,235],"sich":[41,111,154,196,236,248,293],"spezifische":[43],"Krankheitsverlauf":[44,188],"darstellen":[45],"und":[46,66,90,138,167,180,258,273,276,302],"ein":[47,295],"\u00dcberblick":[48],"\u00fcber":[49,165],"urs\u00e4chlichen":[51],"Mutationen":[52,101],"VPS13A":[54,81],"Gens":[55],"gewinnen.":[56],"Methoden:":[57],"Patientendaten":[59],"wurden":[60],"anhand":[61],"standardisierten":[63],"Frageb\u00f6gen":[64],"erhoben":[65],"statistisch":[67],"ausgewertet.":[68],"konnten":[70],"durch":[71,75,266,294],"systematische":[72],"Literaturrecherche":[73],"sowie":[74,182,278],"direkte":[76],"Anfragen":[77],"im":[78,123,129],"Mutationsdiagnostik":[82],"gewonnen":[83],"werden.":[84],"Einverst\u00e4ndniserkl\u00e4rungen":[85],"zur":[86],"anonymisierten":[87],"Nutzung":[88],"klinischer":[89],"genetischer":[91],"liegen":[93],"vor.":[94],"Ergebnisse:":[95],"Das":[96],"Mutationsspektrum":[97],"zeigt":[98,153],"81":[99],"unterschiedliche":[100],"(63":[102],"in":[103,106,155,238,287],"Exons,":[104],"18":[105],"Introns).":[107],"Exonmutationen":[109],"verteilen":[110],"ohne":[112,229],"Fokus":[113],"auf":[114,204],"44":[115],"insgesamt":[117],"73":[118],"Exons.":[119],"Nach":[120],"durchschnittlichem":[121],"Beginn":[122],"30.":[124],"Lebensjahr":[125],"endet":[126],"Mittel":[130],"nach":[131],"12":[132],"Jahren":[133],"letal.":[134],"Epileptische":[135],"Anf\u00e4lle":[136,202,251],"(42%)":[137],"orofaziale":[139],"Dyskinesien":[140],"(25%)":[141],"z\u00e4hlen":[142],"zu":[143],"den":[144,187],"h\u00e4ufigsten":[145],"Erstsymptomen":[146],"Patienten.":[149],"In":[150,191,243],"Labordiagnostik":[152],"73%":[156],"Erh\u00f6hung":[160],"Serum":[162],"CK":[163],"500U/l":[166],"ist":[168],"damit":[169],"verl\u00e4sslicher":[170],"als":[171,222],"inkonsistente":[173],"Akanthozytennachweis.":[174],"42":[177],"ausgew\u00e4hlten":[178],"Symptomen":[179],"technischen":[181],"laborchemischen":[183],"Untersuchungen":[184],"gelang":[185],"es,":[186],"detailliert":[189],"darzustellen.":[190],"medikament\u00f6sen":[193],"Behandlung":[194],"ergaben":[195],"Hinweise,":[197],"dass":[198],"begleitenden":[200],"epileptischen":[201],"gut":[203],"Therapie":[206],"beispielsweise":[207],"mit":[208],"Carbamazepin":[209],"(80%":[210],"Anfallsfreiheit/deutliche":[211],"Reduzierung":[212],"Anfallsfrequenz,":[214],"n=15)":[215],"oder":[216],"Valproat":[217],"(83%,":[218],"n=12)":[219],"ansprechen.":[220],"Haloperidol":[221],"Neuroleptikum":[223],"hingegen":[224],"bleibt":[225],"h\u00e4ufig":[226,249],"wirkungslos":[227],"(85%":[228],"Wirkung,":[230],"n=13).":[231],"Schlussfolgerungen:":[232],"typischerweise":[237],"drei":[239],"aufeinanderfolgende":[240],"Phasen":[241],"einzuteilen:":[242],"Phase":[245,262,289],"I":[246],"zeigen":[247],"epileptische":[250],"und/oder":[252],"Tics":[253],"verschiedener":[254],"Qualit\u00e4ten":[255],"(h\u00e4ufig":[256,303],"motorisch":[257],"orofazial":[259],"betont).":[260],"II":[263],"wird":[264],"dominiert":[265],"hyperkinetische":[267],"Bewegungsst\u00f6rungen":[268],"wie":[269],"Chorea":[270],"Stammes":[272],"Hals":[275],"Kopf,":[277],"Dystonien":[280],"insbesondere":[281],"Zunge.":[283],"Dies":[284],"geht":[285],"schlie\u00dflich":[286],"III":[290],"\u00fcber,":[291],"hypokinetisches":[296],"Parkinsonsyndrom,":[297],"dem":[298],"Verlust":[299],"Reflexen":[301],"neurogene)":[304],"Myopathie":[305],"charakterisiert.":[306]},"counts_by_year":[],"updated_date":"2026-10-14T16:39:01.820549","created_date":"2016-06-24T00:00:00"}
