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A Diagnostic Approach to Spastic ataxia Syndromes

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Abstract

Spastic ataxia is characterized by the combination of cerebellar ataxia with spasticity and other pyramidal features. It is the hallmark of some hereditary ataxias, but it can also occur in some spastic paraplegias and acquired conditions. It often presents with heterogenous clinical features with other neurologic and non-neurological symptoms, resulting in complex phenotypes. In this review, the differential diagnosis of spastic ataxias are discussed and classified in accordance with inheritance. Establishing an organized classification method based on mode inheritance is fundamental for the approach to patients with these syndromes. For each differential, the clinical features, neuroimaging and genetic aspects are reviewed. A diagnostic approach for spastic ataxias is then proposed.

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Authors and Affiliations

  1. Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, SP, Brazil

    José Luiz Pedroso & Orlando Graziani Povoas Barsottini

  2. Department of Internal Medicine, Universidade Federal de Juiz de Fora, Juiz de Fora, MG, Brazil

    Thiago Cardoso Vale

  3. Department of Neurology, Universidade Estadual de Campinas – UNICAMP, Campinas, SP, Brazil

    Marcondes C. França Junior

  4. Laboratorio de Neurogenética, Centro Universitario de Neurología “José María Ramos Mejía” y División Neurología, Hospital JM Ramos Mejía, Facultad de Medicina, UBA, Buenos Aires, Argentina

    Marcelo A. Kauffman

  5. Department of Neurology, Universidade Federal do Paraná, Curitiba, PR, Brazil

    Helio Teive

  6. Department of Neurology, University of Toronto, Toronto, ON, Canada

    Renato Puppi Munhoz

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  1. José Luiz Pedroso
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  2. Thiago Cardoso Vale
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Correspondence to Orlando Graziani Povoas Barsottini.

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Dr. Pedroso reports no disclosure. Dr. Vale reports no disclosure. Dr. França Jr. reports no disclosure. Dr. Kauffman reports no disclosure. Dr. Teive reports no disclosure. Dr. Barsottini reports no disclosure. Dr. Munhoz reports no disclosure.

Author Role

1) Research project: A. Conception, B. Organization, C. Execution. 2) Data Analysis: A. Design, B. Execution, C. Review and Critique. 3) Manuscript: A. Writing of the first draft, B. Review and Critique. Dr. Pedroso: 1A, 1B, 1C, 2A, 2B, 2C, 3A, 3B. Dr. Vale: 1C, 2B, 2C, 3A, 3B. Dr. França Jr.: 1A, 1B, 1C, 3A, 3B. Dr. Kauffman: 1A, 1B, 1C, 3A, 3B. Dr. Teive: 3A, 3B. Dr. Barsottini: 1A, 1B, 1C, 3A, 3B. Dr. Munhoz: 1A, 1B, 1C, 2A, 2B, 2C, 3A, 3B.

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Pedroso, J.L., Vale, T.C., França Junior, M.C. et al. A Diagnostic Approach to Spastic ataxia Syndromes. Cerebellum 21, 1073–1084 (2022). https://doi.org/10.1007/s12311-021-01345-5

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