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Spinocerebellar Ataxia Type 5 (SCA5) Mimicking Cerebral Palsy: a Very Early Onset Autosomal Dominant Hereditary Ataxia

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Authors and Affiliations

  1. Departament of Neurology, Universidade Federal de São Paulo, São Paulo, SP, Brazil

    Luane Abdalla Gouvêa, Ivana Rocha Raslan, Augusto Bragança Reis Rosa, Thiago Yoshinaga Tonholo Silva,  Marcelo de Melo Aragão , Orlando Graziani Povoas Barsottini & José Luiz Pedroso

  2. Hospital Albert Einstein, São Paulo, SP, Brazil

    Rejane Macedo Campos

  3. Department of Neurology and Neurosurgery, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), Pedro Toledo Street, 650, Vila Clementino, São Paulo, SP, Zip Code: 04039-002, Brazil

    José Luiz Pedroso

Authors
  1. Luane Abdalla Gouvêa
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  2. Ivana Rocha Raslan
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  3. Augusto Bragança Reis Rosa
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  4. Thiago Yoshinaga Tonholo Silva
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  5. Rejane Macedo Campos
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  6. Marcelo de Melo Aragão
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  7. Orlando Graziani Povoas Barsottini
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  8. José Luiz Pedroso
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Contributions

(1) Patient evaluation: A. Conception, B. Organization, C. Execution; (2) Brain imaging: A. Conception, B. Execution; (3) Manuscript: A. Writing of the first draft, B. Review and critique. LAG: 1A, 1B, 1C, 2A, 3A; IRR: 1A, 1B, 1C, 2A, 3A; RMC: 1B, 1C, 2A, 3A; ABRR: 1A, 1B, 1C, 2A, 3A; TYTS: 1A, 1B, 1C, 2A, 3A; OGPD: 1A, 1B, 1C, 2A, 2B, 2C; JLP: 1A, 1B, 1C, 2A, 2B, 2C.

Corresponding author

Correspondence to José Luiz Pedroso.

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Ethical Statement

Full consent was obtained from the patients for these case series. All authors provided approved the final form of these manuscripts and take full responsibility for the data.

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The authors declare no competing interests.

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Supplementary Information

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12311_2022_1380_MOESM1_ESM.docx

Table 1 shows the cases of infantile onset spinocerebellar ataxia type 5 (SCA5) reported, including clinical features, brain imaging and genetics. -: absent; +: present; NA: not available. (DOCX 25 KB)

Video 1 Patients with early onset SCA5. Patient 1 at 31-year-old presents with dysmetria, intention tremor, dysdiadochokinesia and gait ataxia. Patient 2 at 3-year-old (first video) and at 4-year-old (second video) presents with gait ataxia. (MOV 9729 KB)

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Gouvêa, L.A., Raslan, I.R., Rosa, A.B.R. et al. Spinocerebellar Ataxia Type 5 (SCA5) Mimicking Cerebral Palsy: a Very Early Onset Autosomal Dominant Hereditary Ataxia. Cerebellum 22, 316–318 (2023). https://doi.org/10.1007/s12311-022-01380-w

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  • DOI: https://doi.org/10.1007/s12311-022-01380-w

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