Skip to main content

Advertisement

SpringerLink
Log in

Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey

  • Original Article
  • Published:
Neurogenetics Aims and scope Submit manuscript

Abstract.

We studied five families with pediatric-onset recessive spastic ataxia from Turkey. The clinical characteristics and linkage studies are compatible with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). SACS mutations are responsible for ARSACS in Québec families. In four of the five families tested we detected new disease-causing mutations using automated sequencing of SACS. Our study raises to 12 the number of SACS mutations detected in ARSACS patients with origins around the Mediterranean basin.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2a
Fig. 3

Similar content being viewed by others

References

  1. Bouchard J-P, Barbeau A, Bouchard R, Bouchard RW (1978) Autosomal recessive spastic ataxia of Charlevoix-Saguanay. Can J Neurol Sci 5:61–69

    CAS  PubMed  Google Scholar 

  2. Jetté R, Gauvreau D, Guérien M (1991) Aux origines d’une région: le peuplement fondateur de Charlevoix avant 1850. In: Bouchard G, De Braekeleer M (eds) Histoire d’un génome: population et génétique dans l’est du Québec. Presses de l’Université du Québec, Sillery, pp 75–107

  3. Gauvreau D, Guérien M, Hamel M (1991) De Charlevoix au Saguenay: mesure et caractéristiques du mouvement migratoire avant 1911. In: Bouchard G, De Braekeleer M (eds) Histoire d’un génome: population et génétique dans l’est du Québec. Presses de l’Université du Québec, Sillery, pp 145–162

  4. De Braekeleer M (1991) Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). Hum Hered 41:141–146

    CAS  PubMed  Google Scholar 

  5. De Braekeleer M, Giasson F, Mathieu J, Roy M, Bouchard J-P, Morgan K (1993) Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in Northeastern Quebec. Genet Epidemiol 10:17–25

    PubMed  Google Scholar 

  6. Bouchard J-P (1991) Recessive spastic ataxia of Charlevoix-Saguenay. In: Jong JMBV de (ed) Hereditary neuropathies and spinocerebellar atrophies. Handbook of Clinical Neurology, vol 16. Elsevier Science, Amsterdam, pp 451–459

  7. Bouchard J-P, Richter A, Mathieu J, Brunet D, Hudson TJ, Morgan K, Melançon SB (1998) Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuromusc Disord 8:474–479

    Article  CAS  PubMed  Google Scholar 

  8. Richter Rioux J, Bouchard J-P, Mercier J, Mathieu J, Ge B, Poirier J, Julien D, Gyapay G, Weissenbach J, Hudson TJ, Melançon SB, Morgan K (1999) Location score and haplotype analysis of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay in chromosome region 13 q 11. Am J Hum Genet 64:768–775

    Article  CAS  PubMed  Google Scholar 

  9. Engert JC, Bérubé P, Mercier J, Doré C, Lepage P, Ge B, Bouchard J-P, Mathieu J, Melançon SB, Schalling M, Lander ES, Morgan K, Hudson TJ, Richter A (2000) ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5 kb ORF. Nat Genet 24:120–125

    Article  CAS  PubMed  Google Scholar 

  10. Chaigne D, Brauer E, Ruh D, Jouart D, Juif JG (1993) L’ataxie spastique autosomique récessive: étude clinique, neurophysiologique, ophtalmologique et IRM de deux cas familiaux (abstract). Rev Neurol (Paris) 149:585

    Google Scholar 

  11. Mrissa N, Belal S, Hamida CB, Amouri R, Turki I, Mrissa R, Hamida MB, Hentati F (2000) Linkage to chromosome 13 q 11–12 of an autosomal recessive cerebellar ataxia in a Tunisian family. Neurology 54:1408–1414

    CAS  PubMed  Google Scholar 

  12. Pascual-Castroviejo I, Pascual-Pascual SI, Viano J, Martinez V (2000) Charlevoix-Saguenay type recessive spastic ataxia. A report of a Spanish case. Rev Neurol 31:36–38

    CAS  PubMed  Google Scholar 

  13. Gücüyener K, Özgül K, Paternotte C, Erdem H, Prud’homme JF, Özgüç M, Topaloğlu H (2001) Autosomal recessive spastic atatxia in two unrelated Turkish families. Neuropediatrics 23:142–146

    Article  Google Scholar 

  14. Euch-Fayache G, Lalani I, Amouri R, Turki I, Ouahchi K, Hung WY, Belal S, Siddique T, Hentati F (2003) Phenotypic features and genetic findings in Sacsin-related autosomal recessive ataxia in Tunisia Arch Neurol 60:982–988

    Google Scholar 

  15. Aparicio S, Chapman J, Stupka E, Putnam N, Chia JM, Dehal P, et al (2002) Whole-genome shotgun assembly and analysis of the genome of Fugu rubripes. Science 297:1301–1310

    Article  CAS  PubMed  Google Scholar 

  16. Grynberg M, Erlandsen H, Godzik A (2003) HEPN: a common domain in bacterial drug resistance and human neurodegenerative proteins. Trends Biochem Sci 28:224–226

    Google Scholar 

  17. Grieco GS, Malandrini A, Comanducci G, Leuzzi V, Valoppi M, Tessa A, Palmeri S, Benedetti L, Pierallini A, Gambelli S, Federico A, Pierelli F, Bertini E, Casali C, Santorelli FM (2004) Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. Neurology 62:103–106

    CAS  PubMed  Google Scholar 

  18. Criscuolo C, Banfi S, Orio M, Gasparini P, Monticelli A, Scarano V, Santorelli FM, Perretti A, Santoro L, De Michele G, Filla A (2004) A novel mutation in SACS gene in a family from southern Italy. Neurology 62:100–102

    CAS  PubMed  Google Scholar 

  19. Ogawa T, Takiyama Y, Sakoe K, Mori K, Namekawa M, Shimazaki H, Nakano I, Nishizawa M (2004) Identification of a SACS gene missense mutation in ARSACS. Neurology 62:107–109

    CAS  PubMed  Google Scholar 

  20. Gomez CM (2004) ARSACS goes global. Neurology 62:10–11

    Article  PubMed  Google Scholar 

Download references

Acknowledgements.

These studies were supported by a research grant (MOP-14668) from the Canadian Institutes of Health (to A.R.) and Association Française contre les Myopathies (to H.T.). The experiments described in this paper comply with the current laws of the countries (Turkey and Canada) in which they were performed.

Author information

Authors and Affiliations

  1. Service de Génétique Médicale, Hôpital Sainte-Justine, 3175 Côte Sainte-Catherine, Montréal, Québec, H3T 1C5, Canada

    Andrea M. Richter & Virginie C. Poisson

  2. DNA/Cell Bank and Gene Research Laboratory (TUBITAK), Hacettepe University Child Health Institute, Ankara, Turkey

    Riza Koksal Ozgul

  3. Department of Child Neurology, Hacettepe Children’s Hospital, 06100 Ankara, Turkey

    Haluk Topaloglu

Authors
  1. Andrea M. Richter
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Riza Koksal Ozgul
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Virginie C. Poisson
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Haluk Topaloglu
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Andrea M. Richter.

Electronic Supplementary Material

Rights and permissions

Reprints and permissions

About this article

Cite this article

Richter, A.M., Ozgul, R.K., Poisson, V.C. et al. Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey. Neurogenetics 5, 165–170 (2004). https://doi.org/10.1007/s10048-004-0179-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10048-004-0179-y

Keywords

Search

Navigation