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Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey

Abstract

Hereditary ataxias are a group of genetic disorders that are progressive and heterogeneous. The purpose of this study was to develop a practical and time-efficient approach to diagnosing childhood hereditary ataxias by analyzing characteristics and final diagnosis at a tertiary referral clinic for pediatric neurology. 196 patients admitted to the pediatric neurology department were included. The medical records were examined for demographic features, neurological, laboratory, electrophysiological, cranial imaging, and pathological findings, and for genetic studies. Patients were divided into two groups based on whether a final diagnosis was made. The undiagnosed and diagnosed groups consisted of 157 (81.1%) and 39 (19.9%) patients, respectively. The two groups differed in terms of levels of history of consanguineous marriage and mental and motor development before diagnosis, absence of deep tendon reflexes, and the presence of polyneuropathic changes detected by electromyelography (EMG), abnormal visual evoked potentials (VEPs), electroretinography (ERG), and muscle biopsy. To the best of our knowledge, this is the first study involving a large spectrum of diseases related to autosomal recessive ataxias in childhood in Turkey. One out of five patients with hereditary childhood ataxias can be diagnosed with clinical and laboratory and electrodiagnostic examination, especially with the help of imaging facilities, while genetic analysis is not possible for every child. Cranial magnetic resonance imaging followed by EMG provides the most important clues for the diagnosis of hereditary childhood ataxias.

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Acknowledgments

We are grateful to all our patients and their families, to professors G. Haliloğlu, MD, B. Anlar, MD, G. Turanlı, MD, and S. Aysun, MD from the Department of Child Neurology of Hacettepe University, to our colleagues Ü. Kaya, MD, B. Konuşkan, MD, and G.Ç. Sel, MD, and to all other personnel in our own and other departments at Hacettepe University and from other parts of Turkey for their invaluable assistance.

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Correspondence to Elif Acar Arslan.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Informed consent has been obtained by all study objects and the study was approved by the Institutional Review Board.

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Arslan, E.A., Göçmen, R., Oğuz, K.K. et al. Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey. Acta Neurol Belg 117, 857–865 (2017). https://doi.org/10.1007/s13760-017-0786-7

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  • DOI: https://doi.org/10.1007/s13760-017-0786-7

Keywords

  • Childhood ataxia
  • Hereditary ataxia
  • Magnetic resonance imaging
  • Approach to diagnosis