Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia
Here, we describe the clinical features of several members of the same family diagnosed with Friedreich ataxia (FRDA) and cerebral lesions, demyelinating neuropathy, and late-age onset without a significant cardiac involvement and presenting with similar symptoms, although genetic testing was negati...
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| Format: | Article |
| Language: | English |
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Wiley
2016-01-01
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| Series: | Case Reports in Neurological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2016/4515938 |
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| author | Semiha Kurt Betul Cevik Durdane Aksoy E. Irmak Sahbaz Aslı Gundogdu Eken A. Nazli Basak |
| author_facet | Semiha Kurt Betul Cevik Durdane Aksoy E. Irmak Sahbaz Aslı Gundogdu Eken A. Nazli Basak |
| author_sort | Semiha Kurt |
| collection | DOAJ |
| description | Here, we describe the clinical features of several members of the same family diagnosed with Friedreich ataxia (FRDA) and cerebral lesions, demyelinating neuropathy, and late-age onset without a significant cardiac involvement and presenting with similar symptoms, although genetic testing was negative for the GAA repeat expansion in one patient of the family. The GAA repeat expansion in the frataxin gene was shown in all of the family members except in a young female patient. MRI revealed arachnoid cysts in two patients; MRI was consistent with both cavum septum pellucidum-cavum vergae and nodular signal intensity increase in one patient. EMG showed demyelinating sensorimotor polyneuropathy in another patient. The GAA expansion-negative 11-year-old female patient had mental-motor retardation, epilepsy, and ataxia. None of the patients had significant cardiac symptoms. Description of FRDA families with different ethnic backgrounds may assist in identifying possible phenotypic and genetic features of the disease. Furthermore, the genetic heterogeneity observed in this family draws attention to the difficulty of genetic counseling in an inbred population and to the need for genotyping all affected members before delivering comprehensive genetic counseling. |
| format | Article |
| id | doaj-art-320c89f746734b55bafa476d04dc0a12 |
| institution | Kabale University |
| issn | 2090-6668 2090-6676 |
| language | English |
| publishDate | 2016-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Neurological Medicine |
| spelling | doaj-art-320c89f746734b55bafa476d04dc0a122025-02-03T05:50:07ZengWileyCase Reports in Neurological Medicine2090-66682090-66762016-01-01201610.1155/2016/45159384515938Atypical Features in a Large Turkish Family Affected with Friedreich AtaxiaSemiha Kurt0Betul Cevik1Durdane Aksoy2E. Irmak Sahbaz3Aslı Gundogdu Eken4A. Nazli Basak5Department of Neurology, Gaziosmanpasa University Faculty of Medicine, 60100 Tokat, TurkeyDepartment of Neurology, Gaziosmanpasa University Faculty of Medicine, 60100 Tokat, TurkeyDepartment of Neurology, Gaziosmanpasa University Faculty of Medicine, 60100 Tokat, TurkeySuna and Inan Kıraç Foundation Neurodegeneration Research Laboratory, Molecular Biology and Genetics Department, Bogazici University, 34342 Istanbul, TurkeySuna and Inan Kıraç Foundation Neurodegeneration Research Laboratory, Molecular Biology and Genetics Department, Bogazici University, 34342 Istanbul, TurkeySuna and Inan Kıraç Foundation Neurodegeneration Research Laboratory, Molecular Biology and Genetics Department, Bogazici University, 34342 Istanbul, TurkeyHere, we describe the clinical features of several members of the same family diagnosed with Friedreich ataxia (FRDA) and cerebral lesions, demyelinating neuropathy, and late-age onset without a significant cardiac involvement and presenting with similar symptoms, although genetic testing was negative for the GAA repeat expansion in one patient of the family. The GAA repeat expansion in the frataxin gene was shown in all of the family members except in a young female patient. MRI revealed arachnoid cysts in two patients; MRI was consistent with both cavum septum pellucidum-cavum vergae and nodular signal intensity increase in one patient. EMG showed demyelinating sensorimotor polyneuropathy in another patient. The GAA expansion-negative 11-year-old female patient had mental-motor retardation, epilepsy, and ataxia. None of the patients had significant cardiac symptoms. Description of FRDA families with different ethnic backgrounds may assist in identifying possible phenotypic and genetic features of the disease. Furthermore, the genetic heterogeneity observed in this family draws attention to the difficulty of genetic counseling in an inbred population and to the need for genotyping all affected members before delivering comprehensive genetic counseling.http://dx.doi.org/10.1155/2016/4515938 |
| spellingShingle | Semiha Kurt Betul Cevik Durdane Aksoy E. Irmak Sahbaz Aslı Gundogdu Eken A. Nazli Basak Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia Case Reports in Neurological Medicine |
| title | Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia |
| title_full | Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia |
| title_fullStr | Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia |
| title_full_unstemmed | Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia |
| title_short | Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia |
| title_sort | atypical features in a large turkish family affected with friedreich ataxia |
| url | http://dx.doi.org/10.1155/2016/4515938 |
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