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Journal of Neurology

, Volume 262, Issue 1, pp 224–225 | Cite as

Early and severe autonomic failure: broadening the clinical phenotype of type-2 spinocerebellar ataxia. A case report

  • R. Capozzo
  • G. Rizzo
  • M. De Mari
  • C. Tortorella
  • G. LogroscinoEmail author
Letter to the Editors

Dear Sirs,

Spinocerebellar ataxia 2 (SCA2) is an autosomal dominant cerebellar disorder [1] associated to abnormal CAG repeat expansion in the ATXN2 gene (12q23-24). The clinical features include gait ataxia, dysarthria, saccade slowing, peripheral neuropathy and amyotrophy. Autonomic nervous system dysfunction is part of SCA2 clinical picture [2] in later stage of disease [3]. We describe a patient carrying SCA2 mutation with ataxia and severe autonomic failure in early stage of disease.

The patient was a 43-year man with a familiar dominant pattern of gait imbalance (Fig.  1). According to his wife, he reported the onset of disease 2 months before. The patient complained vertigo, fatigue and daily drowsiness. At first examination the patient presented gait ataxia, dysarthria and upper limbs dysmetria. Brain MRI showed prominent cerebellar and brainstem atrophy without pathological hyperintensities and mild cerebral cortex atrophy. All serum tests were normal. Genetic testing revealed...

Keywords

Multiple System Atrophy Autonomic Dysfunction Spinocerebellar Ataxia SCA2 Patient Gait Ataxia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgments

We thank Professor Paolo Lamberti for giving clinical insight for this patient.

Conflicts of interest

The authors report no conflicts of interest or funding sources.

Ethical standard

Patient’s anonymity was protected in this case report.

References

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Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • R. Capozzo
    • 1
  • G. Rizzo
    • 1
  • M. De Mari
    • 2
  • C. Tortorella
    • 3
  • G. Logroscino
    • 1
    • 3
    Email author
  1. 1.Neurodegenerative Diseases Unit, Department of Clinical Research in NeurologyUniversity of Bari at Pia Fondazione Card G. Panico HospitalTricase (LE)Italy
  2. 2.Department of Neurology‘Bonomo’ HospitalAndria (BA)Italy
  3. 3.Department of Basic Medical Science, Neuroscience and Sense OrgansUniversity of BariBariItaly

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