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

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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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References

  1. Bernard G, Shevell M, Bernard G et al (2008) The wobbly child: an approach to inherited ataxias. Semin Pediatr Neurol 15:194–208

    Article  PubMed  Google Scholar 

  2. Ashley CN, Hoang KD, Lynch DR et al (2012) Childhood ataxia: clinical features, pathogenesis, key unanswered questions, and future directions. J Child Neurol 27:1095–1120

    Article  PubMed  PubMed Central  Google Scholar 

  3. Fogel BL (2012) Childhood cerebellar ataxia. J Child Neurol 27:1138–1145

    Article  PubMed  PubMed Central  Google Scholar 

  4. Ruano L, Melo C, Silva MC et al (2014) The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology 42:174–183

    Article  PubMed  Google Scholar 

  5. Musselman KE, Stoyanov CT, Marasigan R et al (2014) Prevalence of ataxia in children: a systematic review. Neurology 82:80–89

    Article  PubMed  PubMed Central  Google Scholar 

  6. Erichsen AK, Koht J, Stray-Pedersen A et al (2009) Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. Brain 132:1577–1588

    Article  PubMed  Google Scholar 

  7. Alikaşifoglu M, Topaloglu H, Tunçbilek E et al (1999) Clinical and genetic correlate in childhood onset Friedreich ataxia. Neuropediatrics 30(2):72–76

    Article  PubMed  Google Scholar 

  8. Akturk H, Sutcu M, Somer A et al (2017) Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients. World J Pediatr. doi:10.1007/s12519-017-0011-z

    PubMed  Google Scholar 

  9. Ulkü A, Araç N, Ozeren A (1988) Friedreich’s ataxia: a clinical review of 20 childhood cases. Acta Neurol Scand 77(6):493–497

    Article  PubMed  Google Scholar 

  10. Yilmaz MB, Koç AF, Kasap H et al (2006) GAA repeat polymorphism in Turkish Friedreich’s ataxia patients. Int J Neurosci 116(5):565–574

    Article  CAS  PubMed  Google Scholar 

  11. Ersoy F, Berkel AI, Sanal O et al (1991) Twenty-year follow-up of 160 patients with ataxia-telangiectasia. Turk J Pediatr 33(4):205–215

    CAS  PubMed  Google Scholar 

  12. Wolf NI, Koenig M (2013) Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. Handb Clin Neurol 113:1869–1878

    Article  PubMed  Google Scholar 

  13. Schöls L, Bauer P, Schmidt T et al (2004) Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 3:291–304

    Article  PubMed  Google Scholar 

  14. Fogel BL, Perlman S (2007) Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol 6:245–257

    Article  CAS  PubMed  Google Scholar 

  15. Vedolin L, Gonzalez G, Souza CF et al (2013) Inherited cerebellar ataxia in childhood: a pattern-recognition approach using brain MRI. AJNR Am J Neuroradiol 34:925–934

    Article  CAS  PubMed  Google Scholar 

  16. Al-Maawali A, Blaser S, Yoon G (2012) Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients. J Child Neurol 27:1121–1132

    Article  PubMed  PubMed Central  Google Scholar 

  17. Poretti A, Wolf NI, Boltshauser E (2015) Differential diagnosis of cerebellar atrophy in childhood: an update. Neuropediatrics 46:359–370

    Article  PubMed  Google Scholar 

  18. Anheim M, Monga B, Fleury M et al (2009) Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain 132:2688–2698

    Article  CAS  PubMed  Google Scholar 

  19. Németh AH, Kwasniewska AC, Lise S et al (2013) Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. Brain 136:3106–3118

    Article  PubMed  PubMed Central  Google Scholar 

  20. Pyle A, Smertenko T, Bargiela D et al (2015) Exome sequencing in undiagnosed inherited and sporadic ataxias. Brain 138:276–283

    Article  PubMed  Google Scholar 

  21. Boddaert N, Desguerre I, Bahi-Buisson N et al (2010) Posterior fossa imaging in 158 children with ataxia. J Neuroradiol 37:220–230

    Article  CAS  PubMed  Google Scholar 

  22. Palau F, Espinós C (2006) Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis 1:47 Review

    Article  PubMed  PubMed Central  Google Scholar 

  23. Fiskerstrand T, Knappskog P, Majewski J et al (2009) A novel Refsum-like disorder that maps to chromosome 20. Neurology 72:20–27

    Article  CAS  PubMed  Google Scholar 

  24. Le Ber I, Moreira MC, Rivaud-Péchoux S et al (2003) Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain 126:2761–2772

    Article  PubMed  Google Scholar 

  25. Barkovich AJ, Millen KJ, Dobyns WB (2007) A developmental classification of malformations of the brainstem. Ann Neurol 62:625–639

    Article  PubMed  Google Scholar 

  26. Gazulla J, Benavente I, Vela AC et al (2012) New findings in the ataxia of Charlevoix-Saguenay. J Neurol 259:869–878

    Article  PubMed  Google Scholar 

  27. Oguz KK, Haliloglu G, Temucin C et al (2013) Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix-Saguenay. AJNR Am J Neuroradiol 34:1952–1957

    Article  CAS  PubMed  Google Scholar 

  28. Takiyama Y (2006) Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuropathology 26:368–375

    Article  PubMed  Google Scholar 

  29. Faria EC, Arita JH, Peruchi MM et al (2008) Cystic leukoencephalopathy without megalencephaly. Arq Neuropsiquiatr 66:261–263

    Article  PubMed  Google Scholar 

  30. Topcu M, Saatci I, Topcuoglu MA et al (1998) Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases. Brain Dev 20:142–153

    Article  CAS  PubMed  Google Scholar 

  31. Topçu M, Aydin OF, Yalçinkaya C et al (2005) L-2- hydroxyglutaric aciduria: a report of 29 patients. Turk J Pediatr 47:1–7

    PubMed  Google Scholar 

  32. Renaud DL (2012) Leukoencephalopathies associated with macrocephaly. Semin Neurol 32:34–41

    Article  PubMed  Google Scholar 

  33. Anheim M, Tranchant C, Koenig M (2012) The autosomal recessive cerebellar ataxias. N Engl J Med 366:636–646

    Article  CAS  PubMed  Google Scholar 

Download references

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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Author notes

  1. Elif Acar Arslan

    Present address: Department of Pediatric Neurology, Karadeniz Technical University School of Medicine, 61080, Trabzon, Turkey

Authors and Affiliations

  1. Department of Pediatric Neurology, Hacettepe University School of Medicine, Ankara, Turkey

    Elif Acar Arslan, Gökçen Düzgün Konuşkan, Esra Serdaroğlu, Haluk Topaloğlu & Meral Topçu

  2. Department of Radiology, Hacettepe University School of Medicine, Ankara, Turkey

    Rahşan Göçmen & Kader Karlı Oğuz

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  1. Elif Acar Arslan
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  2. Rahşan Göçmen
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Correspondence to Elif Acar Arslan.

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The authors declare that they have no conflict of interest.

Ethical approval

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

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