Case Report
BibTex RIS Cite

ELECTROPHYSIOLOGICAL CHARACTERISTICS OF AUTOSOMAL-RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY IN A TURKISH FAMILY

Year 2022, Volume: 85 Issue: 2, 275 - 278, 24.03.2022
https://doi.org/10.26650/IUITFD.984032

Abstract

The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), presenting with spinocerebellar ataxia, dysarthria, nystagmus, and spastic paraparesis, is a gradually progressive hereditary disease. Sensorimotor polyneuropathy may also accompany the symptoms. Herein, we present the electrophysiologic findings of a Turkish family with ARSACS in combination with clinical and genetic features to better describe the characteristics of the polyneuropathy in ARSACS. Regarding the electrophysiologic findings, however, the demyelinating characteristics were prominent and there were findings compatible with secondary axonal degeneration. Rare hereditary diseases such as ARSACS must be suspected in the presence of polyneuropathies with demyelinating characteristics accompanying pyramidal findings and ataxia.

Supporting Institution

Scientific Research Projects Coordination Unit of Istanbul University.

Project Number

37697

References

  • 1. Bouhlal Y, Amouri R, El Euch-Fayeche G, Hentati F. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview. Parkinsonism Relat Disord 2011;17(6): 418-22.[CrossRef]
  • 2. Engert JC, Berube P, Mercier J, Dore C, Lepage P, Ge B, et al. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 2000;24(2):120-5. [CrossRef]
  • 3. Bagaria J, Bagyinszky E, An SSA. Genetics of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and role of sacsin in neurodegeneration. Int J Mol Sci 2022;23(1):552. [CrossRef]
  • 4. Longo F, De Ritis D, Miluzio A, Fraticelli D, Baets J, Scarlato M, et al. Assessment of sacsin turnover in patients With ARSACS: Implications for molecular diagnosis and pathogenesis. Neurology 2021;97(23): e2315-27. [CrossRef]
  • 5. El Euch-Fayache G, Lalani I, Amouri R, Turki I, Ouahchi K, Hung WY, et al. Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia. Arch Neurol 2003;60(7):982-8. [CrossRef]
  • 6. Peyronnard JM, Charron L, Barbeau A. The neuropathy of Charlevoix-Saguenay ataxia: an electrophysiological and pathological study. Can J Neurol Sci 1979;6(2):199-203. [CrossRef]
  • 7. Bouchard JP, Barbeau A, Bouchard R, Bouchard RW. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Can J Neurol Sci 1978;5(1): 61-9. [CrossRef]
  • 8. Bouchard JP, Richter A, Mathieu J, Brunet D, Hudson TJ, Morgan K, et al. Autosomal recessive spastic ataxia of Charlevoix- Saguenay. Neuromuscul Disord 1998;8(7):474-9. [CrossRef]
  • 9. Gucuyener K, Ozgul K, Paternotte C, Erdem H, Prud’homme JF, Ozguc M, et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families. Neuropediatrics 2001;32(3):142-6. [CrossRef]
  • 10. Richter AM, Ozgul RK, Poisson VC, Topaloglu H. Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey. Neurogenetics 2004;5(3):165-70. [CrossRef]
  • 11. Kurt S, Kartal E, Aksoy D, Cevik B, Eken AG, Sahbaz I, et al. Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient. J Neurol Sci 2015;357(1-2):290-1. [CrossRef]
  • 12. Samanci B, Gokalp EE, Bilgic B, Gurvit H, Artan S, Hanagasi HA. A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix- Saguenay. Neurol Sci 2021;42(7):2969-73. [CrossRef]
  • 13. Oguz KK, Haliloglu G, Temucin C, Gocmen R, Has AC, Doerschner K, et al. Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix- Saguenay. AJNR Am J Neuroradiol 2013;34(10):1952-7. [CrossRef]
  • 14. Garcia A, Criscuolo C, de Michele G, Berciano J. Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay. Muscle Nerve 2008;37(1):107-10. [CrossRef]
  • 15. Albers JW, Kelly JJ, Jr. Acquired inflammatory demyelinating polyneuropathies: clinical and electrodiagnostic features. Muscle Nerve 1989;12(6):435-51. [CrossRef]

CHARLEVOİX-SAGUENAY’IN OTOZOMAL RESESİF SPASTİK ATAKSİ SENDROMU: BİR TÜRK AİLESİNDE ELEKTROFİZYOLOJİK ÖZELLİKLER

Year 2022, Volume: 85 Issue: 2, 275 - 278, 24.03.2022
https://doi.org/10.26650/IUITFD.984032

Abstract

Charlevoix-Saguenay’ın otozomal resesif spastik ataksi sendromu (ARSCAS), spinoserebellar ataksi, dizartri, nistagmus ve spastik paraparezi ile seyreden ilerleyici bir herediter hastalıktır. Sensörimotor polinöropati semptomlara eşlik edebilir. Bu vaka serisinde, ARSACS’a eşlik eden polinöropatinin niteliklerinin daha iyi anlaşılması amacıyla, ARSACS’lı bir ailede klinik ve genetik özellikler ile birlikte elektrofizyolojik bulgular sunulmuştur. Elektrofizyolojik bulgular, demiyelinizan özellikte bir polinöropati sendromu varlığı ile uyumlu olsa da, hastalarda ikincil aksonal dejenerasyonu işaret eden bulgularda mevcuttu. Demiyelinizan özellikli bir polinöropatiye piramidal bulgular ve ataksi eşlik ettiğinde ARSACS gibi nadir herediter hastalıktan şüphelenilmelidir.

Project Number

37697

References

  • 1. Bouhlal Y, Amouri R, El Euch-Fayeche G, Hentati F. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview. Parkinsonism Relat Disord 2011;17(6): 418-22.[CrossRef]
  • 2. Engert JC, Berube P, Mercier J, Dore C, Lepage P, Ge B, et al. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 2000;24(2):120-5. [CrossRef]
  • 3. Bagaria J, Bagyinszky E, An SSA. Genetics of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and role of sacsin in neurodegeneration. Int J Mol Sci 2022;23(1):552. [CrossRef]
  • 4. Longo F, De Ritis D, Miluzio A, Fraticelli D, Baets J, Scarlato M, et al. Assessment of sacsin turnover in patients With ARSACS: Implications for molecular diagnosis and pathogenesis. Neurology 2021;97(23): e2315-27. [CrossRef]
  • 5. El Euch-Fayache G, Lalani I, Amouri R, Turki I, Ouahchi K, Hung WY, et al. Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia. Arch Neurol 2003;60(7):982-8. [CrossRef]
  • 6. Peyronnard JM, Charron L, Barbeau A. The neuropathy of Charlevoix-Saguenay ataxia: an electrophysiological and pathological study. Can J Neurol Sci 1979;6(2):199-203. [CrossRef]
  • 7. Bouchard JP, Barbeau A, Bouchard R, Bouchard RW. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Can J Neurol Sci 1978;5(1): 61-9. [CrossRef]
  • 8. Bouchard JP, Richter A, Mathieu J, Brunet D, Hudson TJ, Morgan K, et al. Autosomal recessive spastic ataxia of Charlevoix- Saguenay. Neuromuscul Disord 1998;8(7):474-9. [CrossRef]
  • 9. Gucuyener K, Ozgul K, Paternotte C, Erdem H, Prud’homme JF, Ozguc M, et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families. Neuropediatrics 2001;32(3):142-6. [CrossRef]
  • 10. Richter AM, Ozgul RK, Poisson VC, Topaloglu H. Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey. Neurogenetics 2004;5(3):165-70. [CrossRef]
  • 11. Kurt S, Kartal E, Aksoy D, Cevik B, Eken AG, Sahbaz I, et al. Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient. J Neurol Sci 2015;357(1-2):290-1. [CrossRef]
  • 12. Samanci B, Gokalp EE, Bilgic B, Gurvit H, Artan S, Hanagasi HA. A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix- Saguenay. Neurol Sci 2021;42(7):2969-73. [CrossRef]
  • 13. Oguz KK, Haliloglu G, Temucin C, Gocmen R, Has AC, Doerschner K, et al. Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix- Saguenay. AJNR Am J Neuroradiol 2013;34(10):1952-7. [CrossRef]
  • 14. Garcia A, Criscuolo C, de Michele G, Berciano J. Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay. Muscle Nerve 2008;37(1):107-10. [CrossRef]
  • 15. Albers JW, Kelly JJ, Jr. Acquired inflammatory demyelinating polyneuropathies: clinical and electrodiagnostic features. Muscle Nerve 1989;12(6):435-51. [CrossRef]
There are 15 citations in total.

Details

Primary Language English
Subjects Health Care Administration
Journal Section Case Reports
Authors

Lala Mehdikhanova This is me 0000-0003-1239-8987

Nermin Görkem Şirin 0000-0001-8792-2929

Başar Bilgiç 0000-0001-6032-0856

Haşmet Hanağası 0000-0002-4624-4428

Nazlı Başak This is me 0000-0001-6977-2517

Barış Baslo 0000-0003-1551-0559

Elif Kocasoy Orhan 0000-0002-2110-4832

Project Number 37697
Publication Date March 24, 2022
Submission Date October 3, 2021
Published in Issue Year 2022 Volume: 85 Issue: 2

Cite

APA Mehdikhanova, L., Şirin, N. G., Bilgiç, B., Hanağası, H., et al. (2022). ELECTROPHYSIOLOGICAL CHARACTERISTICS OF AUTOSOMAL-RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY IN A TURKISH FAMILY. Journal of Istanbul Faculty of Medicine, 85(2), 275-278. https://doi.org/10.26650/IUITFD.984032
AMA Mehdikhanova L, Şirin NG, Bilgiç B, Hanağası H, Başak N, Baslo B, Kocasoy Orhan E. ELECTROPHYSIOLOGICAL CHARACTERISTICS OF AUTOSOMAL-RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY IN A TURKISH FAMILY. İst Tıp Fak Derg. March 2022;85(2):275-278. doi:10.26650/IUITFD.984032
Chicago Mehdikhanova, Lala, Nermin Görkem Şirin, Başar Bilgiç, Haşmet Hanağası, Nazlı Başak, Barış Baslo, and Elif Kocasoy Orhan. “ELECTROPHYSIOLOGICAL CHARACTERISTICS OF AUTOSOMAL-RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY IN A TURKISH FAMILY”. Journal of Istanbul Faculty of Medicine 85, no. 2 (March 2022): 275-78. https://doi.org/10.26650/IUITFD.984032.
EndNote Mehdikhanova L, Şirin NG, Bilgiç B, Hanağası H, Başak N, Baslo B, Kocasoy Orhan E (March 1, 2022) ELECTROPHYSIOLOGICAL CHARACTERISTICS OF AUTOSOMAL-RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY IN A TURKISH FAMILY. Journal of Istanbul Faculty of Medicine 85 2 275–278.
IEEE L. Mehdikhanova, “ELECTROPHYSIOLOGICAL CHARACTERISTICS OF AUTOSOMAL-RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY IN A TURKISH FAMILY”, İst Tıp Fak Derg, vol. 85, no. 2, pp. 275–278, 2022, doi: 10.26650/IUITFD.984032.
ISNAD Mehdikhanova, Lala et al. “ELECTROPHYSIOLOGICAL CHARACTERISTICS OF AUTOSOMAL-RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY IN A TURKISH FAMILY”. Journal of Istanbul Faculty of Medicine 85/2 (March 2022), 275-278. https://doi.org/10.26650/IUITFD.984032.
JAMA Mehdikhanova L, Şirin NG, Bilgiç B, Hanağası H, Başak N, Baslo B, Kocasoy Orhan E. ELECTROPHYSIOLOGICAL CHARACTERISTICS OF AUTOSOMAL-RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY IN A TURKISH FAMILY. İst Tıp Fak Derg. 2022;85:275–278.
MLA Mehdikhanova, Lala et al. “ELECTROPHYSIOLOGICAL CHARACTERISTICS OF AUTOSOMAL-RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY IN A TURKISH FAMILY”. Journal of Istanbul Faculty of Medicine, vol. 85, no. 2, 2022, pp. 275-8, doi:10.26650/IUITFD.984032.
Vancouver Mehdikhanova L, Şirin NG, Bilgiç B, Hanağası H, Başak N, Baslo B, Kocasoy Orhan E. ELECTROPHYSIOLOGICAL CHARACTERISTICS OF AUTOSOMAL-RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY IN A TURKISH FAMILY. İst Tıp Fak Derg. 2022;85(2):275-8.

Contact information and address

Addressi: İ.Ü. İstanbul Tıp Fakültesi Dekanlığı, Turgut Özal Cad. 34093 Çapa, Fatih, İstanbul, TÜRKİYE

Email: itfdergisi@istanbul.edu.tr

Phone: +90 212 414 21 61