Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia

الملخص EN

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.