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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2021; 79(10): 891-894
DOI: 10.1590/0004-282X-ANP-2020-0386
Article

Nystagmus may be the first neurological sign in early stages of spinocerebellar ataxia type 3

Nistagmo pode ser o primeiro sinal neurológico nos estágios precoces da ataxia espinocerebelar tipo 3
Maria Thereza Drumond Gama 
1   Universidade Federal de São Paulo, Departamento de Neurologia, Unidade de Ataxia, São Paulo SP, Brazil.
,
Flávio Moura Rezende  Filho
1   Universidade Federal de São Paulo, Departamento de Neurologia, Unidade de Ataxia, São Paulo SP, Brazil.
,
Thiago Junqueira Ribeiro Rezende 
2   Universidade de Campinas, Departamento de Neurologia, Campinas SP, Brazil.
,
Pedro Braga  Neto
3   Universidade Federal do Ceará, Departamento de Neurologia, Fortaleza CE, Brazil.
,
Marcondes Cavalcante França  Junior
2   Universidade de Campinas, Departamento de Neurologia, Campinas SP, Brazil.
,
José Luiz Pedroso 
1   Universidade Federal de São Paulo, Departamento de Neurologia, Unidade de Ataxia, São Paulo SP, Brazil.
,
Orlando Graziani Povoas Barsottini 
1   Universidade Federal de São Paulo, Departamento de Neurologia, Unidade de Ataxia, São Paulo SP, Brazil.
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Abstract

Background: Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant spinocerebellar ataxia worldwide. Almost all patients with SCA3 exhibit nystagmus and/or saccades impairment. Objective: To investigate the presence of nystagmus as an early neurological manifestation, before ataxia, in some patients with SCA3 in the first six months of the disease. Methods: We evaluated a series of 155 patients with clinically and molecularly proven SCA3 between 2013 and 2020. Data regarding sex, age, age at onset, disease duration, CAG repeat expansion length, first symptom, presence of ataxia, scores on SARA and ICARS scales, and presence and characteristics of nystagmus were collected. Results: We identified seven patients with symptomatic SCA3 who presented with isolated nystagmus. In these seven individuals the age at onset ranged from 24 to 57 years, and disease duration from four to six months. Conclusions: Our study showed that nystagmus may be the first neurological sign in SCA3. This clinical observation reinforces the idea that the neurodegenerative process in SCA3 patients may start in vestibular system connections or in flocculonodular lobe. This study adds relevant information about pre-symptomatic features in SCA3 that may work as basis for a better understanding of brain degeneration and for future therapeutic clinical trials.

RESUMO

Antecedentes: A ataxia espinocerebelar tipo 3 (SCA3) é a ataxia espinocerebelar de herança autossômica dominante mais comum em todo o mundo. Quase todos os pacientes com SCA3 têm nistagmo e/ou comprometimento das sácades. Objetivo: Investigar a presença de nistagmo como manifestação neurológica precoce, antes do surgimento da ataxia, em alguns pacientes com SCA3 nos primeiros seis meses de doença. Métodos: Foram avaliados 155 pacientes com diagnóstico clínico e molecular de SCA3, entre 2013 e 2020, em relação a sexo, idade, idade de início, duração da doença, expansão da repetição CAG, primeiro sintoma, presença de ataxia, pontuações nas escalas SARA e ICARS, e presença e caracterização de nistagmo. Resultados: Identificamos sete pacientes com SCA3 que apresentavam nistagmo isolado. A idade de início da doença nesses pacientes variou de 24 a 57 anos e a duração da doença variou de quatro a seis meses. Conclusões: O nosso estudo mostrou que o nistagmo pode ser o primeiro sinal neurológico na SCA3. Essa observação clínica reforça a ideia de que o processo neurodegenerativo nos pacientes com SCA3 pode se iniciar nas conexões do sistema vestibular ou no lobo floculonodular. Este estudo adiciona informações relevantes sobre características pré-sintomáticas na SCA3 e que podem servir de base para melhor entendimento da degeneração cerebral e para futuras terapias.

Keywords:

Machado-Joseph Disease - Ataxin-3 - Neurodegenerative Diseases - Cerebellar Ataxia

Palavras-chave:

Doença de Machado-Joseph - Ataxina-3 - Doenças Neurodegenerativas - Ataxia Cerebelar

Authors’ contributions:

MTDG, FMRF, TJRR, PBN, JLP: article project (conception, organization and execution), writing of the first draft and review and critique; MCFJ, OGB: article project (conception, organization and execution), review and critique of the manuscript.




Publication History

Received: 04 November 2020

Accepted: 22 December 2020

Article published online:
07 June 2023

© 2021. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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