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POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome

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Abstract

Hyperintensities in the middle cerebellar peduncles (MCP), known as the MCP sign, and progressive late-onset ataxia constitute major characteristics of the fragile X tremor/ataxia syndrome (FXTAS). Here, we describe a 60-year-old male affected by ataxia due to biallelic mutations in the mitochondrial polymerase gamma (POLG) gene in which hyperintensities of the middle cerebellar peduncles (MCP) were found. The initial suspicion of FXTAS was however ruled out by a normal CGG expansion size in the FMR1 gene. We discuss the features of late-onset POLG-A as a phenocopy of FXTAS.

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Fig. 1

Abbreviations

FXTAS:

Fragile X tremor/ataxia syndrome

POLG-A:

POLG-associated ataxia

MCP:

Middle cerebellar peduncles

MSA:

Multiple system atrophy

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Acknowledgments

We express our true gratitude to the patient for consenting to this report. Martin Paucar was supported by the Stockholm County Council (combined clinical residency and PhD training program).

Authors’ Contributions

Dr M. Paucar, Dr M. Engvall, Dr L. Gordon and E Tham are responsible for the study concept, data collection, and writing of the manuscript; Dr M. Paucar wrote the first draft; Dr M. Synofzik and Prof. P. Svenningsson are responsible for the study concept and editing of the manuscript.

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Authors and Affiliations

  1. Department of Neurology, Karolinska University Hospital, Stockholm, Sweden

    Martin Paucar, Martin Engvall, Lisa Gordon & Per Svenningsson

  2. Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden

    Martin Paucar & Per Svenningsson

  3. Center for Inherited Metabolic Disorders, Karolinska University Hospital, Stockholm, Sweden

    Martin Engvall

  4. Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden

    Emma Tham

  5. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden

    Emma Tham

  6. Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Tübingen, Germany

    Matthis Synofzik

  7. German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany

    Matthis Synofzik

Authors
  1. Martin Paucar
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  2. Martin Engvall
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  3. Lisa Gordon
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  4. Emma Tham
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  5. Matthis Synofzik
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  6. Per Svenningsson
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Corresponding author

Correspondence to Martin Paucar.

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Consent

Oral and written consent was obtained for this report.

Conflict of Interest

The authors declare that they have no conflicts of interest.

Study Funding

Stockholm County Council

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Paucar, M., Engvall, M., Gordon, L. et al. POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome. Cerebellum 15, 632–635 (2016). https://doi.org/10.1007/s12311-016-0777-x

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  • DOI: https://doi.org/10.1007/s12311-016-0777-x

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