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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2021; 79(09): 851-852
DOI: 10.1590/0004-282X-ANP-2020-0189
Images in Neurology

Spinocerebellar ataxia type 3 presenting simultaneously with motor neuron disease and cerebellar ataxia

Ataxia espinocerebelar tipo 3 apresentando-se simultaneamente com doença do neurônio motor e ataxia cerebelar
Cristina Saade Jaques 
1   Universidade Federal de São Paulo, Departamento de Neurologia, Unidade de Ataxia, São Paulo, SP, Brazil.
,
José Luiz Pedroso 
1   Universidade Federal de São Paulo, Departamento de Neurologia, Unidade de Ataxia, São Paulo, SP, Brazil.
,
Antônio José da Rocha 
2   Santa Casa de São Paulo, Faculdade de Ciências Médicas, Divisão de Neurorradiologia, São Paulo, SP, Brazil.
,
Wladimir Bocca Vieira de Resende Pinto 
3   Universidade Federal de São Paulo, Departamento de Neurologia, Unidade Neuromuscular, São Paulo, SP, Brazil.
,
Acary Souza Bulle Oliveira 
3   Universidade Federal de São Paulo, Departamento de Neurologia, Unidade Neuromuscular, São Paulo, SP, Brazil.
,
Orlando G. P. Barsottini 
1   Universidade Federal de São Paulo, Departamento de Neurologia, Unidade de Ataxia, São Paulo, SP, Brazil.
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A 66-year-old man reported an eight-year history of progressive ataxia and one-year of weakness, fasciculation and muscle atrophy ([Figure 1]). Examination disclosed hypermetric saccades, diffuse fasciculations and absent deep tendon reflexes. Family history was remarkable for autosomal dominant ataxia ([Figure 2]). MRI showed cerebellar atrophy. Genetic testing confirmed SCA3 (66 allelic expansion on ATXN3 gene). EMG disclosed diffuse denervation and confirmed motor neuron disease (MND).

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Figure 1 Index patient with spinocerebellar ataxia type 3 and motor neuron disease presenting with forearm flexor muscle atrophy (1A), split hand sign noted as a preferential wasting of first dorsal interossei (1B) and thenar muscles abductor pollicis brevis (1C). Brain MRI showed global diffuse atrophy, more marked on middle and superior cerebellar peduncles, as on cerebellum (1D-E), and cervical spine MRI showed diffuse cervical spinal cord atrophy with no signal changes (1F).
Zoom Image
Figure 2 Heredogram. Family with spinocerebellar ataxia type 3 (SCA3).

Spinocerebellar ataxias (SCAs) may manifest as MND, particularly SCA2. Although SCA3 usually manifest as peripheral nerve involvement in a neuronopathy pattern and anterior horn degeneration, marked MND is uncommon[1],[2]. SCA3 with simultaneous sporadic amyotrophic lateral sclerosis should also be considered and may be related to accumulation of transactivation-responsive DNA-binding protein 43 (TDP-43) in the lower motor neurons[3].


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Conflict of interest:

There is no conflict of interest to declare.

Authors’ contribution:

1. Case report project: A. Conception, B. Organization, C. Execution; 2. Statistical Analysis: A. Design, B. Execution, C. Review and Critique; 3. Manuscript: A. Writing of the first draft, B. Review and Critique. CSJ: 1A, 1B, 1C, 3A, 3B; JLP: 1A, 1B, 3B; AJR: 3B; WBVRP: 3B; ASBO: 3B; OGPB: 1A, 1B, 3B.


Ethical statement:

Our Ethics Committee has approved this report. Patient provided informed consent for this publication.


  • References

  • 1 Pinto S, De Carvalho M. Machado-Joseph disease presenting as motor neuron disease. Amyotroph Lateral Scler 2008 Jun;9(3):188-91. https://doi.org/10.1080/17482960701702603
  • 2 Moro A, Munhoz RP, Arruda WO, Raskin S, Moscovich M, Teive HA. Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients. Arq Neuropsiquiatr 2014 Sep;72(9):659-62. https://doi.org/10.1590/0004-282x20140129
  • 3 Toyoshima Y, Takahashi H. TDP-43 pathology in polyglutamine diseases: with reference to amyotrphic lateral sclerosis. Neuropathology. 2014 Feb;34(1):77-82. https://doi.org/10.1111/neup.12053

Address for correspondence

José Luiz Pedroso

Publication History

Received: 02 May 2020

Accepted: 08 December 2020

Article published online:
01 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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  • References

  • 1 Pinto S, De Carvalho M. Machado-Joseph disease presenting as motor neuron disease. Amyotroph Lateral Scler 2008 Jun;9(3):188-91. https://doi.org/10.1080/17482960701702603
  • 2 Moro A, Munhoz RP, Arruda WO, Raskin S, Moscovich M, Teive HA. Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients. Arq Neuropsiquiatr 2014 Sep;72(9):659-62. https://doi.org/10.1590/0004-282x20140129
  • 3 Toyoshima Y, Takahashi H. TDP-43 pathology in polyglutamine diseases: with reference to amyotrphic lateral sclerosis. Neuropathology. 2014 Feb;34(1):77-82. https://doi.org/10.1111/neup.12053

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Zoom Image
Figure 1 Index patient with spinocerebellar ataxia type 3 and motor neuron disease presenting with forearm flexor muscle atrophy (1A), split hand sign noted as a preferential wasting of first dorsal interossei (1B) and thenar muscles abductor pollicis brevis (1C). Brain MRI showed global diffuse atrophy, more marked on middle and superior cerebellar peduncles, as on cerebellum (1D-E), and cervical spine MRI showed diffuse cervical spinal cord atrophy with no signal changes (1F).
Zoom Image
Figure 2 Heredogram. Family with spinocerebellar ataxia type 3 (SCA3).