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Sökning: onr:"swepub:oai:lup.lub.lu.se:5f7c34a2-8f70-4bbf-bcd9-493601e2b778" > Clinical and geneti...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00007527naa a2200445 4500
001oai:lup.lub.lu.se:5f7c34a2-8f70-4bbf-bcd9-493601e2b778
003SwePub
008231220s2024 | |||||||||||000 ||eng|
0247 a https://lup.lub.lu.se/record/5f7c34a2-8f70-4bbf-bcd9-493601e2b7782 URI
0247 a https://doi.org/10.1007/s00415-023-11990-x2 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Gorcenco, Sorinau Lund University,Lunds universitet,Klinisk neurogenetik,Forskargrupper vid Lunds universitet,Clinical Neurogenetics,Lund University Research Groups,Skåne University Hospital4 aut0 (Swepub:lu)so1444go
2451 0a Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia
264 1c 2024
520 a Hereditary ataxia is a heterogeneous group of complex neurological disorders. Next-generation sequencing methods have become a great help in clinical diagnostics, but it may remain challenging to determine if a genetic variant is the cause of the patient’s disease. We compiled a consecutive single-center series of 87 patients from 76 families with progressive ataxia of known or unknown etiology. We investigated them clinically and genetically using whole exome or whole genome sequencing. Test methods were selected depending on family history, clinical phenotype, and availability. Genetic results were interpreted based on the American College of Medical Genetics criteria. For high-suspicion variants of uncertain significance, renewed bioinformatical and clinical evaluation was performed to assess the level of pathogenicity. Thirty (39.5%) of the 76 families had received a genetic diagnosis at the end of our study. We present the predominant etiologies of hereditary ataxia in a Swedish patient series. In two families, we established a clinical diagnosis, although the genetic variant was classified as “of uncertain significance” only, and in an additional three families, results are pending. We found a pathogenic variant in one family, but we suspect that it does not explain the complete clinical picture. We conclude that correctly interpreting genetic variants in complex neurogenetic diseases requires genetics and clinical expertise. The neurologist’s careful phenotyping remains essential to confirm or reject a diagnosis, also by reassessing clinical findings after a candidate genetic variant is suggested. Collaboration between neurology and clinical genetics and combining clinical and research approaches optimizes diagnostic yield.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653 a Hereditary ataxia
653 a Next-generation sequencing
653 a Post-NGS phenotyping
7001 a Kafantari, Efthymiau Lund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Klinisk neurogenetik,Forskargrupper vid Lunds universitet,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Clinical Neurogenetics,Lund University Research Groups,Skåne University Hospital4 aut0 (Swepub:lu)ef1051ka
7001 a Wallenius, Joelu Lund University,Lunds universitet,Biodiversitet,Biologiska institutionen,Naturvetenskapliga fakulteten,Klinisk neurogenetik,Forskargrupper vid Lunds universitet,Biodiversity,Department of Biology,Faculty of Science,Clinical Neurogenetics,Lund University Research Groups,Skåne University Hospital4 aut0 (Swepub:lu)jo2122wa
7001 a Karremo, Christinu Lund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Restorative Parkinson Unit,Forskargrupper vid Lunds universitet,Klinisk neurogenetik,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Lund University Research Groups,Clinical Neurogenetics,Skåne University Hospital4 aut0 (Swepub:lu)med-crk
7001 a Alinder, Eriku Skåne University Hospital,Lund University4 aut
7001 a Dobloug, Sigurdu Lund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Klinisk neurogenetik,Forskargrupper vid Lunds universitet,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Clinical Neurogenetics,Lund University Research Groups,Skåne University Hospital4 aut0 (Swepub:lu)si8341do
7001 a Landqvist Waldö, Mariau Lund University,Lunds universitet,Kliniska Vetenskaper, Helsingborg,Sektion II,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Clinical Sciences, Helsingborg,Section II,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)med-mlv
7001 a Englund, Elisabetu Lund University,Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Patologi, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Pathology, Lund,Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital4 aut0 (Swepub:lu)pat-een
7001 a Ehrencrona, Hansu Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Region Skåne4 aut0 (Swepub:lu)med-hen
7001 a Wictorin, Klasu Lund University,Lunds universitet,Lärare vid läkarprogrammet,Avdelningen för läkarprogrammets kursadministration,Utbildningsenheten,Kansli M,Medicinska fakulteten,Teachers at the Medical Programme,Division of Course Administration for the Medical Programme,The Education Office,Faculty Office - BMC,Faculty of Medicine4 aut0 (Swepub:lu)kl6605wi
7001 a Karrman, Kristinau Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Genetiska och epigenetiska studier av barnleukemi,Forskargrupper vid Lunds universitet,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Genetic and epigenetic studies of pediatric leukemia,Lund University Research Groups,Region Skåne4 aut0 (Swepub:lu)klin-kka
7001 a Puschmann, Andreasu Lund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Klinisk neurogenetik,Forskargrupper vid Lunds universitet,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Clinical Neurogenetics,Lund University Research Groups,Skåne University Hospital,Science for Life Laboratory (SciLifeLab)4 aut0 (Swepub:lu)med-aps
7102 a Klinisk neurogenetikb Forskargrupper vid Lunds universitet4 org
7730 t Journal of Neurologyg 271:1, s. 526-542q 271:1<526-542x 0340-5354
8564 u http://dx.doi.org/10.1007/s00415-023-11990-xx freey FULLTEXT
8564 8u https://lup.lub.lu.se/record/5f7c34a2-8f70-4bbf-bcd9-493601e2b778
8564 8u https://doi.org/10.1007/s00415-023-11990-x

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