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Reading: Apraxia of Eyelid Opening and Blepharospasm in Two Spinocerebellar Ataxia Type 3 Patients

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Apraxia of Eyelid Opening and Blepharospasm in Two Spinocerebellar Ataxia Type 3 Patients

Authors:

Thiago G. Guimarães ,

Neurogenetics Unit, Neurology Department, Hospital das Clínicas da Universidade de São Paulo, São Paulo, BR
About Thiago G.

MD

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Lucas R. Montanha,

Neurogenetics Unit, Neurology Department, Hospital das Clínicas da Universidade de São Paulo, São Paulo, BR
About Lucas R.

MD

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Fernando Freua,

Neurogenetics Unit, Neurology Department, Hospital das Clínicas da Universidade de São Paulo, São Paulo, BR
About Fernando

MD

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Anderson R. B. Paiva,

Neurogenetics Unit, Neurology Department, Hospital das Clínicas da Universidade de São Paulo, São Paulo, BR
About Anderson R. B.

MD, PhD

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Lúcia I. Macedo-Souza,

Neurogenetics Unit, Neurology Department, Hospital das Clínicas da Universidade de São Paulo, São Paulo, BR
About Lúcia I.

PhD

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Fernando Kok

Neurogenetics Unit, Neurology Department, Hospital das Clínicas da Universidade de São Paulo, São Paulo, BR
About Fernando

MD, PhD

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Abstract

Background: Neuroophthalmological phenotypical particularities of SCA3.

Phenomenology: Eyelid opening apraxia and asymmetrical blepharospasm.

Educational Value: To illustrate the phenomenology for purposes of education.

How to Cite: Guimarães TG, Montanha LR, Freua F, Paiva ARB, Macedo-Souza LI, Kok F. Apraxia of Eyelid Opening and Blepharospasm in Two Spinocerebellar Ataxia Type 3 Patients. Tremor and Other Hyperkinetic Movements. 2022;12(1):1. DOI: http://doi.org/10.5334/tohm.677
  Published on 17 Jan 2022
 Accepted on 06 Jan 2022            Submitted on 06 Dec 2021

Spinocerebellar ataxia 3 (SCA3) is an autosomal dominant disorder caused by an abnormal CAG expansion mutation in the ATXN3 gene, and the most frequent SCA worldwide.

We report the cases of two women with a heterozygous CAG expansion in the ATXN3 gene (patient 1, 76 CAG repeats; patient 2 with 75 CAG repeats) who have been treated in our outpatient clinic. Their clinical phenotype is remarkable mainly for global ataxia, pyramidal syndrome (mainly on the lower limbs), limb dystonia, and hypokinesia (Video, patient 1, segment 1). Symptoms appeared at 18 years of age in patient 1, and 30 years of age in patient 2.

Video 

Two SCA3 patients with eyelid opening apraxia and asymmetrical blepharospasm.

Patient 1, segment 1 shows severe global hypokinesia during the finger-nose-finger test and severe hands dystonia. Patient 1, Segment 2 shows quite disabling apraxia of eyelid opening and very subtle asymmetrical blepharospasm (worse on the right side).

Patient 2, segment 1, focus on observing the asymmetrical blepharospasm (also worse on the right side). Patient 2, segment 2, better elicits the eyelid opening apraxia (less evident in this patient).

Noteworthily, the patients also had eyelid opening apraxia associated with asymmetrical blepharospasm (Video, patient 1, segment 2; patient 2). These findings have already been described in SCA3 and SCA2 patients [1, 2]; however, video documentation is hard to find. There is a wide phenotypical overlap between all hereditary dominant ataxias, and particular clinical features may be helpful during the diagnostic workup. Ocular findings may be of major importance to narrow the diagnostic possibilities. Most reviews focus on abnormalities of supranuclear eye movements. For instance, saccadic pursuit, rebound nystagmus, and ophthalmoparesis (mainly vertical), which are prevalent in SCA3 cases [3]. However, both eyelid opening apraxia and blepharospasm seem to receive less attention in most reviews; nonetheless, these appear to be additional clinical findings that points toward both SCA3 and SCA2.

This report aims to draw attention to eyelid opening apraxia and blepharospasm during the neurological examination, and to serve as a source of teaching material to illustrate SCA3’s phenotypical nuances.

Ethics and Consent

Written informed consent was obtained per institute guidelines for videotaping the subjects and publishing their video and history. We confirm that we have read the Journal’s position on issues involved in ethical publication and affirm that this work is consistent with those guidelines.

Acknowledgement

The authors thank the patient and family for their kind cooperation during the study.

Competing Interests

The authors have no competing interests to declare.

References

  1. Wilson D, Hallett M, Anderson T. An Eye on Movement Disorders. Mov Disord Clin Pract. 2021; 8(8): 1168–80. DOI: https://doi.org/10.1002/mdc3.13317 

  2. Cardoso F, de Oliveira JT, Puccioni-Sohler M, Fernandes AR, de Mattos JP, Lopes-Cendes I. Eyelid dystonia in Machado-Joseph disease. Mov Disord. 2000; 15(5): 1028–30. DOI: https://doi.org/10.1002/1531-8257(200009)15:5<1028::AID-MDS1047>3.0.CO;2-# 

  3. Moscovich M, Okun MS, Favilla C, Figueroa KP, Pulst SM, Perlman S, et al. Clinical evaluation of eye movements in spinocerebellar ataxias: a prospective multicenter study. J Neuroophthalmol. 2015; 35(1): 16–21. DOI: https://doi.org/10.1097/WNO.0000000000000167 

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