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Case Reports in Neurological Medicine
Volume 2016, Article ID 4515938, 7 pages
http://dx.doi.org/10.1155/2016/4515938
Case Report

Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia

1Department of Neurology, Gaziosmanpasa University Faculty of Medicine, 60100 Tokat, Turkey
2Suna and Inan Kıraç Foundation Neurodegeneration Research Laboratory, Molecular Biology and Genetics Department, Bogazici University, 34342 Istanbul, Turkey

Received 28 March 2016; Revised 25 June 2016; Accepted 4 July 2016

Academic Editor: Dominic B. Fee

Copyright © 2016 Semiha Kurt et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

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.