Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2020 Oct 7:10:39.
doi: 10.5334/tohm.557.

Complex Movement Disorders in Ataxia with Oculomotor Apraxia Type 1: Beyond the Cerebellar Syndrome

José Luiz Pedroso  1 , Thiago Cardoso Vale  2 , Sophia Caldas Gonzaga da Costa  1 , Mariana Santos  3 , Isabel Alonso  3 , Orlando Graziani Povoas Barsottini  1
Affiliations
Case Reports

Complex Movement Disorders in Ataxia with Oculomotor Apraxia Type 1: Beyond the Cerebellar Syndrome

José Luiz Pedroso et al. Tremor Other Hyperkinet Mov (N Y). .

Abstract

Background: Ataxia with oculomotor apraxia (AOA1) is characterized by early-onset progressive cerebellar ataxia with peripheral neuropathy, oculomotor apraxia and hypoalbuminemia and hypercholesterolemia.

Case report: A 23-year-old previously healthy woman presented with slowly-progressive gait impairment since the age of six years. Neurological examination revealed profound areflexia, chorea, generalized dystonia and oculomotor apraxia. Brain MRI revealed mild cerebellar atrophy and needle EMG showed axonal sensorimotor neuropathy. Whole exome sequencing revealed a mutation in the aprataxin gene.

Discussion: AOA1 can present with choreoathetosis mixed with dystonic features, resembling ataxia-telangiectasia. This case is instructive since mixed and complex movement disorders is not very common in AOA1.

Highlights: Ataxia with oculomotor apraxia type 1 (AOA1) is characterized by early-onset ataxia and oculomotor apraxia caused by variants in the APTX gene.Ataxia is usually not the sole movement abnormality in AOA1.Hyperkinetic movement disorders, especially chorea and dystonia, may occur.Mixed and complex movement disorders is not very common in AOA1.Patients with early-onset ataxia associated with mixed movement disorders should also be investigated for AOA1.

Keywords: ataxia; ataxia with oculomotor apraxia; ataxia with oculomotor apraxia type 1; cerebellum; movement disorders.

PubMed Disclaimer

Conflict of interest statement

The authors have no competing interests to declare.

Figures

Figure 1
Figure 1
Axial Flair (panel A), sagittal T1-weighted (panel B) and coronal T1-weighted (panel C) brain magnetic resonance imaging showing cerebellar atrophy (white arrows).
See this image and copyright information in PMC

References

    1. Bras J, Alonso I, Barbot C, et al. Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. Am J Hum Genet. 2015; 96: 474–9. DOI: 10.1016/j.ajhg.2015.01.005 - DOI - PMC - PubMed
    1. Moreira MC, Barbot C, Tachi N, et al. Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity. Am J Hum Genet. 2001; 68: 501–508. DOI: 10.1086/318191 - DOI - PMC - PubMed
    1. Anheim M, Fleury M, Monga B, et al. Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. Neurogenetics. 2010; 11: 1–12. DOI: 10.1007/s10048-009-0196-y - DOI - PubMed
    1. Pearson TS. More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes. Tremor Other Hyperkinet Mov. 2016; 6: 368 DOI: 10.5334/tohm.319 - DOI - PMC - PubMed
    1. Castellotti B, Mariotti C, Rimoldi M, et al. Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients. Neurogenetics. 2011; 12: 193–201. DOI: 10.1007/s10048-011-0281-x - DOI - PubMed

MeSH terms

Supplementary concepts