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Tremor-spectrum in spinocerebellar ataxia type 3

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Abstract

Spinocerebellar ataxia type 3 (SCA3) can be present with a combination of cerebellar, neuropathic, pyramidal, or extrapyramidal symptoms. Tremor is a classical but not frequent manifestation of SCA3 and there is a lack of detailed knowledge regarding its origin. To study the clinical and electrophysiological characteristics of tremor in SCA3 patients, the authors conducted a case series of 72 SCA3 patients. Clinical characteristics of tremor and associated signs, response to treatments, follow-up, and genetic results were collected. Electrophysiological study including polymyographic recording was possible in 4/6 patients and DaTSCAN in 2/6. The authors also performed a systematic review of SCA3 cases with tremor (n = 36) reported previously in the literature. We identified two different tremor-types in 6/72 patients with SCA3 mutations, a “fast” (6.5–8 Hz) action, postural or tremor in orthostatism (initial symptom), which became slower over time with associated parkinsonism with a follow-up of 10 years and a “slow” rest, action and intention tremor (3–4 Hz) with distal and proximal component (including axial tremor in orthostatism). Total improvement of limbs and tremor in orthostatism was obtained with levodopa with occurrence of fluctuations/dyskinesia. Partial benefit was observed when additional signs were present (myoclunus/dystonia). The differences in tremor subtypes in SCA3 may be related to various combinations of mild to severe dysfunctions of the cerebello-thalamo-cortical loop and the nigro-striatal dopaminergic pathway.

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Acknowledgments

CB is supported by the Czech Ministry of Education, research project MSM0021620849, Grantove agentury UK 441611 Charles University in Prague and IGA MZ ČR NT/12288-5/2011. AD is supported by Eurosca (LSHM-CT-2004-503304-E04004DD, 2004-2009, co-PI: Dürr), PHRC (R05129DD-AOM03059, 2005-2012, PI: Dürr), Eranet Risca (R07207HS, 2008-2012, co-PI: Dürr); MV has an INSERM/AP-HP Interface Contract. We thank Henri Bonnet and Marie Helene Carnoy for their critical review of the manuscript and Aaron Rulseh, MD for his English language correction.

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None.

Author information

Authors and Affiliations

  1. Department of Neurology, 1st Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic

    Cecilia Bonnet

  2. AP-HP, Department of Physiology, Saint-Antoine Hospital, Paris, France

    Emmanuelle Apartis

  3. CRICM UPMC/INSERM UMR_S975, CNRS UMR7225, ICM, Pitié-Salpêtrière Hospital, Paris, France

    Emmanuelle Apartis, Mathieu Anheim, Alexandra Durr & Marie Vidailhet

  4. Université Pierre Et Marie Curie-Paris 6, Paris, France

    Emmanuelle Apartis & Marie Vidailhet

  5. AP-HP, Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, Paris, France

    Mathieu Anheim & Alexandra Durr

  6. ESPCI Paris Tech, Paris, France

    Andre P. Legrand

  7. AP-HP, Department of Neurology, Pitié-Salpêtrière Hospital, Paris, France

    Jose F. Baizabal-Carvallo, Anne M. Bonnet & Marie Vidailhet

  8. Centre d’Investigation Clinique 9503, INSERM, AP-HP, Paris, France

    Marie Vidailhet

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  1. Cecilia Bonnet
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  2. Emmanuelle Apartis
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  3. Mathieu Anheim
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  6. Anne M. Bonnet
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  8. Marie Vidailhet
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Correspondence to Cecilia Bonnet.

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C. Bonnet and E. Apartis contributed equally to this work.

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Bonnet, C., Apartis, E., Anheim, M. et al. Tremor-spectrum in spinocerebellar ataxia type 3. J Neurol 259, 2460–2470 (2012). https://doi.org/10.1007/s00415-012-6531-5

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  • DOI: https://doi.org/10.1007/s00415-012-6531-5

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