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

doi:10.1590/0004-282X20170044

Arquivos de Neuro-Psiquiatria, Table of Contents

CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2017; 75(06): 339-344
DOI: 10.1590/0004-282X20170044

ARTICLE

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil

Ataxia espástica autossçmica recessiva de Charlevoix-Saguenay: relato de uma família do sul do Brasil

Daniela Burguêz

¹Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre RS, Brasil;

²Hospital de Clínicas de Porto Alegre, Laboratório de Identificação Genética, Porto Alegre RS, Brasil;

,

Camila Maria de Oliveira

¹Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre RS, Brasil;

,

Marcio Aloísio Bezerra Cavalcanti Rockenbach

³Hospital de Clínicas de Porto Alegre, Serviço de Radiologia, Porto Alegre RS, Brasil;

,

Helena Fussiger

¹Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre RS, Brasil;

,

Leonardo Modesti Vedolin

³Hospital de Clínicas de Porto Alegre, Serviço de Radiologia, Porto Alegre RS, Brasil;

⁴Universidade Federal do Rio Grande do Sul, Departamento de Medicina Interna, Porto Alegre RS, Brasil.

,

Pablo Brea Winckler

⁵Hospital de Clínicas de Porto Alegre, Serviço de Neurologia, Porto Alegre RS, Brasil;

,

Marcelo Krieger Maestri

⁶Hospital de Clínicas de Porto Alegre, Serviço de Oftalmologia, Porto Alegre RS, Brasil;

,

Alessandro Finkelsztejn

⁵Hospital de Clínicas de Porto Alegre, Serviço de Neurologia, Porto Alegre RS, Brasil;

,

Filippo Maria Santorelli

⁷Molecular Medicine-Neurogenetics, IRCCS-Fondazione Stella Maris, Pisa, Italy;

,

Laura Bannach Jardim

¹Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre RS, Brasil;

²Hospital de Clínicas de Porto Alegre, Laboratório de Identificação Genética, Porto Alegre RS, Brasil;

⁸Universidade Federal do Rio Grande do Sul, Programa de Pós-Graduação em Medicina: Ciências Médicas, Porto Alegre RS, Brasil.

⁴Universidade Federal do Rio Grande do Sul, Departamento de Medicina Interna, Porto Alegre RS, Brasil.

,

Jonas Alex Morales Saute

¹Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre RS, Brasil;

²Hospital de Clínicas de Porto Alegre, Laboratório de Identificação Genética, Porto Alegre RS, Brasil;

⁸Universidade Federal do Rio Grande do Sul, Programa de Pós-Graduação em Medicina: Ciências Médicas, Porto Alegre RS, Brasil.

› Author Affiliations

Abstract

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.

RESUMO

A ataxia espástica autossçmica recessiva de Charlevoix-Saguenay (ARSACS) é uma doença neurodegenerativa de início precoce causada por mutações no gene SACS que foi inicialmente descrita na região de Quebec, Canadá. A apresentação típica de ARSACS é caracterizada por ataxia, espasticidade, polineuropatia e hipermielinização das fibras nervosas da retina de início infantil. No presente artigo, descrevemos os achados clínicos e neurorradiológicos que levaram à suspeita de ARSACS em duas primas descendentes de alemães naturais do Rio Grande do Sul, Brasil e revisamos os achados de neuroimagem, oftalmológicos e neurofisiológicos de ARSACS. O fenótipo de ataxia-espástica de início infantil precoce apresentado pelas pacientes era similar ao classicamente descrito em Quebec. O sequenciamento do SACS revelou a mutação nova c.5150_5151insA (mudança na matriz de leitura), em homozigose, confirmando o diagnóstico de ARSACS. A ARSACS é uma causa frequente de ataxia/ataxia-espástica de início precoce mundialmente, entretanto sua frequência é desconhecida no Brasil.

cerebellar ataxia - spastic paraparesis - genetics - magnetic resonance imaging - ophthalmology

ataxia cerebelar - paraparesia espástica - genética - imagem por ressonância magnética - oftalmologia

Full Text

References

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