Phenotypic differences in a large family with Kennedy's disease from the Middle Black Sea region of Turkey

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dc.authoridErdogan Utz, Begum/0000-0001-7012-906X
dc.authorwosidGündoğdu, Aslı Aksoy/C-3992-2016
dc.contributor.authorKaraer, Hatice
dc.contributor.authorKaplan, Yueksel
dc.contributor.authorKurt, Semiha
dc.contributor.authorGundogdu, Asli
dc.contributor.authorErdogan, Beguem
dc.contributor.authorBasak, Nazli A.
dc.date.accessioned2024-08-04T20:32:21Z
dc.date.available2024-08-04T20:32:21Z
dc.date.issued2010
dc.departmentİnönü Üniversitesien_US
dc.description.abstractThe family consisted of 128 individuals over five generations, with two consanguineous parents, one slightly affected female, and 12 affected males with SBMA. We studied the five surviving male patients and one surviving female carrier. The age at disease onset, phenotypic features, and disease severity varied among the family members. DNA analysis was performed on five individuals, belonging to five generations of the family. Four affected males and a slightly affected female carrier were shown to carry an expanded CAG repeat in the androgen receptor gene. This family report is consistent with previous studies suggesting that SBMA may be present with a wide clinical spectrum in affected family members. Further descriptions of SBMA affected families with different ethnic backgrounds may assist in identifying possible phenotypic and genetic features of the disease.en_US
dc.description.sponsorshipBogazici University; Suna and Inan Kirac Foundationen_US
dc.description.sponsorshipWe thank Bogazici University Research Funds and the Suna and Inan Kirac Foundation for their support.en_US
dc.identifier.doi10.3109/17482960802445086
dc.identifier.endpage153en_US
dc.identifier.issn1748-2968
dc.identifier.issn1471-180X
dc.identifier.issue1-2en_US
dc.identifier.pmid20184516en_US
dc.identifier.scopus2-s2.0-77649291726en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage148en_US
dc.identifier.urihttps://doi.org/10.3109/17482960802445086
dc.identifier.urihttps://hdl.handle.net/11616/94996
dc.identifier.volume11en_US
dc.identifier.wosWOS:000275059800021en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherInforma Healthcareen_US
dc.relation.ispartofAmyotrophic Lateral Sclerosisen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectKennedy's diseaseen_US
dc.subjectX-linked spinal and bulbar muscle atrophy (SBMA)en_US
dc.subjectTurkish familyen_US
dc.titlePhenotypic differences in a large family with Kennedy's disease from the Middle Black Sea region of Turkeyen_US
dc.typeArticleen_US

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