Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia.

Semiha Kurt,A Nazli Basak,Durdane Aksoy,E Irmak Sahbaz,Betul Cevik,Aslı Gundogdu Eken

doi:10.1155/2016/4515938

Semiha Kurt, A Nazli Basak + Show 4 more

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https://doi.org/10.1155/2016/4515938

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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.

Highlights

Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder and the most common hereditary ataxia
Brain MRI may be a useful diagnostic procedure, since the absence of cerebellar atrophy may point out other forms of hereditary recessive ataxia rather than Friedreich ataxia [2, 7]
Arachnoid cyst was reported in two of our patients and cavum septum pellucidum and cavum vergae variation and nodular signal changes were detected in Patient II.11

Summary

Introduction

Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder and the most common hereditary ataxia. Harding described the essential clinical features as (1) autosomal recessive inheritance, (2) onset before 25 years of age, (3) progressive limb and gait ataxia, (4) absent tendon reflexes in the lower extremities, (5) electrophysiological signs of axonal sensory neuropathy (within 5 years of onset), (6) dysarthria, (7) areflexia at all four extremities, (8) distal loss of position and vibration sense, (9) extensor plantar reflex, and (10) muscle weakness in the lower extremities [2]. Cardiomyopathy, and diabetes are the most common systemic conditions associated with FRDA [4]. The disease is characterized by clinical variability regarding the age at onset, the rate of progression, and presence/absence of areflexia, muscle weakness, or cardiomyopathy. The clinical manifestations tend to be similar in affected siblings in the same family [4], indicating the crucial role of genetic factors for phenotypic expression of the disease

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