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Pathological findings of anti-Yo cerebellar degeneration with Holmes tremor
  1. David Rydz1,
  2. Chi-Ying Lin1,
  3. Tao Xie2,
  4. Etty Cortes3,4,
  5. Jean-Paul Vonsattel3,4,5,
  6. Sheng-Han Kuo1
  1. 1Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA
  2. 2Department of Neurology, University of Chicago, Chicago, Illinois, USA
  3. 3Taub Institute for Research on Alzheimer's disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, New York, USA
  4. 4New York Brain Bank, Columbia University, New York, New York, USA
  5. 5Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, New York, USA
  1. Correspondence to Dr Sheng-Han Kuo, 650 West 168th Street, Room 305, New York, NY 10032, USA; sk3295{at}columbia.edu

https://doi.org/10.1136/jnnp-2014-308074

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    Holmes tremor, also known as rubral tremor, is defined as the combination of rest, action and postural tremor in the upper extremities with the frequency around 4.5 Hz.1 Involvement of dentato-rubro-thalamic and/or nigrostriatal pathways have been considered contributory to the clinical manifestation,1 and the localisation of Holmes tremor was determined primarily based on the neuroimaging studies.2 To our knowledge, no detailed postmortem examinations were reported in Holmes tremor. Here, we present the pathology of a case with Holmes tremor associated with anti-Yo cerebellar degeneration.

    Case report

    A woman in her eighth decade developed subacute onset of gait ataxia and dysarthria within 6 months. She required a walker to ambulate and needed assistance in her daily living. Four months after the symptom onset, she developed upper extremity tremor and head tremor. Neurological examination revealed square wave jerks, nystagmus on lateral gaze, broken smooth pursuit and scanning speech. She had marked cerebellar ataxia with dysmetria on the bilateral finger-to-nose tests and heel-shin slides. She also had truncal titubation. She had rest head tremor. She also had rest, postural and action tremors in her upper extremities, and the tremor became coarse and irregular with goal-directed movements, …

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    Footnotes

    • DR and C-YL contributed equally.

    • Contributors DR: extensive literature search and manuscript writing. C-YL: extensive literature search and manuscript writing. TX, EC and S-HK: critical revision of the manuscript for important intellectual content. J-P V, S-HK: patient clinical and pathological profiles acquisition, critical revision of the manuscript for important intellectual content.

    • Funding Louis V. Gerstner Jr. Scholar Award.

    • Competing interests S-HK has received funding from NINDS #K08 NS08738 (principal investigator), Louis V. Gerstner Jr. Scholar Award, American Academy of Neurology Research Fellowship (American Brain Foundation), Parkinson's Disease Foundation and American Parkinson's Disease Association.

    • Ethics approval

    • Provenance and peer review Not commissioned; externally peer reviewed.