Infantile childhood onset of spinocerebellar ataxia type 2 - PubMed (original) (raw)

Case Reports

Infantile childhood onset of spinocerebellar ataxia type 2

Roberto Di Fabio et al. Cerebellum. 2012 Jun.

Abstract

Spinocerebellar ataxia type 2 (SCA2) is a late-onset autosomal dominant cerebellar ataxia caused by triplet CAG/CTG expansion in the ATX2 gene. The initial symptoms usually appear when subjects are in their 30s.Pediatric onset is less common and usually associated with larger triplet expansions. We here report the case of a 1-year-old girl who presented with facial dysmorphism,dystonic features, developmental delay, and retinitis pigmentosa.She was diagnosed as carrying an expanded CAG/CTG tract (92 repeats) before a molecular diagnosis of SCA2 was made in her father. Facial dysmorphism associated with developmental delay and retinitis pigmentosa in early childhood should prompt a careful family investigation for ataxia and study of ATX2.

PubMed Disclaimer

Similar articles

• Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion.
  Babovic-Vuksanovic D, Snow K, Patterson MC, Michels VV. Babovic-Vuksanovic D, et al. Am J Med Genet. 1998 Oct 12;79(5):383-7. Am J Med Genet. 1998. PMID: 9779806
• Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.
  Oda M, Maruyama H, Komure O, Morino H, Terasawa H, Izumi Y, Imamura T, Yasuda M, Ichikawa K, Ogawa M, Matsumoto M, Kawakami H. Oda M, et al. Arch Neurol. 2004 Feb;61(2):209-12. doi: 10.1001/archneur.61.2.209. Arch Neurol. 2004. PMID: 14967767
• Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds.
  Tang B, Liu C, Shen L, Dai H, Pan Q, Jing L, Ouyang S, Xia J. Tang B, et al. Arch Neurol. 2000 Apr;57(4):540-4. doi: 10.1001/archneur.57.4.540. Arch Neurol. 2000. PMID: 10768629
• Infantile onset spinocerebellar ataxia 2 (SCA2): a clinical report with review of previous cases.
  Singh A, Faruq M, Mukerji M, Dwivedi MK, Pruthi S, Kapoor S. Singh A, et al. J Child Neurol. 2014 Jan;29(1):139-44. doi: 10.1177/0883073813509015. Epub 2013 Dec 2. J Child Neurol. 2014. PMID: 24300164 Review.
• [The genetics of spinocerebellar ataxias].
  Jacobi H, Minnerop M, Klockgether T. Jacobi H, et al. Nervenarzt. 2013 Feb;84(2):137-42. doi: 10.1007/s00115-012-3637-z. Nervenarzt. 2013. PMID: 23338152 Review. German.

Cited by

• Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches.
  Velázquez-Pérez LC, Rodríguez-Labrada R, Fernandez-Ruiz J. Velázquez-Pérez LC, et al. Front Neurol. 2017 Sep 11;8:472. doi: 10.3389/fneur.2017.00472. eCollection 2017. Front Neurol. 2017. PMID: 28955296 Free PMC article. Review.
• Spinocerebellar ataxia type 2: clinical presentation, molecular mechanisms, and therapeutic perspectives.
  Magaña JJ, Velázquez-Pérez L, Cisneros B. Magaña JJ, et al. Mol Neurobiol. 2013 Feb;47(1):90-104. doi: 10.1007/s12035-012-8348-8. Epub 2012 Sep 21. Mol Neurobiol. 2013. PMID: 22996397 Review.
• Generation of human-induced pluripotent stem cells to model spinocerebellar ataxia type 2 in vitro.
  Xia G, Santostefano K, Hamazaki T, Liu J, Subramony SH, Terada N, Ashizawa T. Xia G, et al. J Mol Neurosci. 2013 Oct;51(2):237-48. doi: 10.1007/s12031-012-9930-2. Epub 2012 Dec 9. J Mol Neurosci. 2013. PMID: 23224816 Free PMC article.
• Selective Forces Related to Spinocerebellar Ataxia Type 2.
  Sena LS, Castilhos RM, Mattos EP, Furtado GV, Pedroso JL, Barsottini O, de Amorim MMP, Godeiro C, Pereira MLS, Jardim LB. Sena LS, et al. Cerebellum. 2019 Apr;18(2):188-194. doi: 10.1007/s12311-018-0977-7. Cerebellum. 2019. PMID: 30219976
• Ophthalmic Manifestations and Genetics of the Polyglutamine Autosomal Dominant Spinocerebellar Ataxias: A Review.
  Park JY, Joo K, Woo SJ. Park JY, et al. Front Neurosci. 2020 Aug 21;14:892. doi: 10.3389/fnins.2020.00892. eCollection 2020. Front Neurosci. 2020. PMID: 32973440 Free PMC article. Review.

References

1. 1. Nat Genet. 1996 Nov;14(3):269-76 - PubMed
2. 1. J Child Neurol. 2008 Sep;23(9):999-1001 - PubMed
3. 1. Cerebellum. 2011 Jun;10(2):184-98 - PubMed
4. 1. Brain. 2006 Jun;129(Pt 6):1357-70 - PubMed
5. 1. Lancet. 1983 May 21;1(8334):1151-5 - PubMed

Publication types

MeSH terms

Substances

LinkOut - more resources

• Full Text Sources

  • Springer

• Research Materials

  • NCI CPTC Antibody Characterization Program