Journal of Neurology

, Volume 259, Issue 5, pp 906–911 | Cite as

ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies

  • Teodora Chamova
  • Laura Florez
  • Velina Guergueltcheva
  • Margarita Raycheva
  • Radka Kaneva
  • Hanns Lochmüller
  • Luba Kalaydjieva
  • Ivailo Tournev
Original Communication


A recent report (Vermeer et al. in Am J Hum Genet 87:813–819, 2010) implicated for the first time the ANO10 gene in the genetic basis of autosomal recessive cerebellar ataxias. One of the three described families were Roma/Gypsies from Serbia, where the affected individuals were homozygous for the truncating p.Leu384fs mutation and displayed distinct phenotypic features (Vermeer et al. in Am J Hum Genet 87:813–819, 2010). Based on the history and population genetics of the Roma/Gypsies, we hypothesised that p.Leu384fs could be another founder mutation in this population, whose identification in a larger number of genetically homogeneous patients will contribute to defining the phenotypic spectrum of the disorder. Here, we describe additional patients from neighbouring Bulgaria, outlining invariable ANO10-ataxia features and confirming global intellectual decline as part of the phenotype resulting from complete Anactomin 10 deficit.


Autosomal recessive cerebellar ataxia ANO10 Phenotypic features Gypsy founder mutations 

Supplementary material

415_2011_6276_MOESM1_ESM.docx (13 kb)
Supplementary material 1 (DOCX 13 kb)


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Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Teodora Chamova
    • 1
  • Laura Florez
    • 2
  • Velina Guergueltcheva
    • 1
  • Margarita Raycheva
    • 1
  • Radka Kaneva
    • 3
  • Hanns Lochmüller
    • 4
  • Luba Kalaydjieva
    • 2
    • 6
  • Ivailo Tournev
    • 1
    • 5
  1. 1.Clinic of NeurologyUniversity Hospital “Alexandrovska”SofiaBulgaria
  2. 2.Molecular Genetics Laboratory, Western Australian Institute for Medical Research and Centre for Medical ResearchThe University of Western AustraliaPerthAustralia
  3. 3.Molecular Medicine CentreMedical University-SofiaSofiaBulgaria
  4. 4.Institute of Genetic MedicineNewcastle UniversityNewcastle upon TyneUK
  5. 5.Department of Cognitive Science and PsychologyNew Bulgarian UniversitySofiaBulgaria
  6. 6.Western Australian Institute for Medical ResearchNedlandsAustralia

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