Ataxia espástica autossômica recessiva de Charlevoix-Saguenay: Relato de uma família do sul do Brasil

Translated title of the contribution: Autosomal recessive spastic ataxia of charlevoix-saguenay: A family report from South Brazil

Daniela Burguêz, Camila Maria de Oliveira, Marcio Aloísio Bezerra Cavalcanti Rockenbach, Helena Fussiger, Leonardo Modesti Vedolin, Pablo Brea Winckler, Marcelo Krieger Maestri, Alessandro Finkelsztejn, Filippo Maria Santorelli, Laura Bannach Jardim, Jonas Alex Morales Saute

Research output: Contribution to journalArticlepeer-review

Abstract

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset, neurodegenerative disorder caused by mutations in SACS, firstly reported in Quebec, Canada. The disorder is typically characterized by childhood onset ataxia, spasticity, neuropathy and retinal hypermyelination. The clinical picture of patients born outside Quebec, however, is often atypical. In the present article, the authors describe clinical and neuroradiological findings that raised the suspicion of an ARSACS diagnosis in two female cousins with Germanic background from Rio Grande do Sul, Brazil. We present a review on the neuroimaging, ophthalmologic and neurophysiologic clues for ARSACS diagnosis. The early-onset, slowly progressive, spastic-ataxia phenotype of reported patients was similar to ARSACS patients from Quebec. The SACS sequencing revealed the novel homozygous c.5150_5151insA frameshift mutation confirming the ARSACS diagnosis. ARSACS is a frequent cause of early onset ataxia/spastic-ataxia worldwide, with unknown frequency in Brazil.

Translated title of the contributionAutosomal recessive spastic ataxia of charlevoix-saguenay: A family report from South Brazil
Original languagePortuguese
Pages (from-to)339-344
Number of pages6
JournalArquivos de Neuro-Psiquiatria
Volume75
Issue number6
DOIs
Publication statusPublished - Jun 1 2017

Keywords

  • Cerebellar ataxia
  • Genetics
  • Magnetic resonance imaging
  • Ophthalmology
  • Spastic paraparesis

ASJC Scopus subject areas

  • Clinical Neurology
  • Biological Psychiatry

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