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Ataxia with Oculomotor Apraxia-Type 1

  • Roongroj Bhidayasiri
  • Daniel Tarsy
Chapter
  • 257 Downloads
Part of the Current Clinical Neurology book series (CCNEU)

Abstract

Ataxia with oculomotor apraxia-type 1 (AOA1) is an early onset ataxia with oculomotor apraxia and hypoalbuminemia. It is an autosomal recessive cerebellar ataxia (ARCA) associated with hypoalbuminemia and hypercholesterolemia. The responsible gene APTX, which encodes aprataxin, has recently been identified. In most families, the phenotype is characterized by early onset cerebellar ataxia, oculomotor apraxia, neuropathy, and mental retardation. The most distinctive clinical signs in AOA1 are abnormal eye movements including gaze-evoked nystagmus (100%), oculomotor apraxia (86%), saccadic pursuit, fixational instability, and excessive blinking. In advanced stages, oculomotor apraxia may be masked by progressive external ophthalmoparesis, beginning with upward vertical gaze palsy.

Keywords

Cerebellar Ataxia Cerebellar Atrophy Axonal Neuropathy Oculomotor Apraxia Fixational Instability 
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.

Supplementary material

Clip 1: the eye movement examination shows oculomotor apraxia in horizontal gaze. Clip 2: the patient has marked gait ataxia characterized by a wide-based gait. Upper extremities are also ataxic. (Video contribution from Dr. Susan Perlman, Department of Neurology at David Geffen School of Medicine at UCLA.)

Ataxia w AOA1.mp4 (MP4 6,732KB)

References

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    Le Ber I, Moreira MC, Rivaud-Pechoux S, et al. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain. 2003;126:2761–72.PubMedCrossRefGoogle Scholar
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    Inoue I, Izumi K, Matawari S, et al. Congenital ocular motor apraxia and cerebellar degeneration-report of two cases. Rinsho Shinkeigaku. 1971;11:855–61.Google Scholar
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    Moreira MC, Barbot C, Tachi N, et al. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nat Genet. 2001;29:189–93.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2012

Authors and Affiliations

  • Roongroj Bhidayasiri
    • 1
    • 2
  • Daniel Tarsy
    • 3
  1. 1.Chulalongkorn Center of Excellence on Parkinson’s Disease and Related DisordersChulalongkorn University HospitalBangkokThailand
  2. 2.Department of NeurologyDavid Geffen School of Medicine at UCLALos AngelesUSA
  3. 3.Department of NeurologyHarvard Medical School Beth Israel Deaconess Medical CenterBostonUSA

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