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Vestibulo-ocular arreflexia in families with spinocerebellar ataxia type 3 (Machado-Joseph disease)

C R Gordon1, V Joffe, G Vainstein

  • 1Department of Neurology, Meir General Hospital, Kfar Saba, Israel. cgordon@post.tau.ac.il

Journal of Neurology, Neurosurgery, and Psychiatry
|October 23, 2003
PubMed
Abstract

Insights

Machado-Joseph disease (MJD) patients exhibit vestibulo-ocular arreflexia, a loss of the vestibulo-ocular reflex. This bedside-diagnosable sign, identified via head thrust tests, aids in early MJD detection.

Area of Science:

  • Neuroscience
  • Ophthalmology
  • Genetics

Background:

  • Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3, is an autosomal dominant neurodegenerative disorder.
  • Vestibular dysfunction is a recognized, yet often underdiagnosed, feature in MJD.
  • Early and accurate diagnosis is crucial for patient management and genetic counseling.

Purpose of the Study:

  • To determine the prevalence of vestibulo-ocular arreflexia in patients with Machado-Joseph disease.
  • To evaluate the utility of bedside neuro-otological examination, specifically the head thrust test, for diagnosing MJD.
  • To differentiate vestibular findings in MJD from other forms of cerebellar ataxia.

Main Methods:

  • A detailed neuro-otological and oculomotor examination was performed on seven MJD patients and eleven patients with other cerebellar ataxias.
  • Electro-oculography and caloric testing were conducted on a subset of participants.
  • The head thrust test was used to assess the horizontal vestibulo-ocular reflex (VOR).

Main Results:

  • All seven MJD patients demonstrated pathological corrective catch-up saccades on head thrust testing, indicating bilateral loss of the horizontal VOR.
  • Non-MJD patients did not exhibit these abnormalities.
  • Caloric testing confirmed absent vestibular responses in MJD patients, distinguishing them from the non-MJD group.

Conclusions:

  • Bedside assessment using the head thrust test to identify vestibulo-ocular arreflexia is a highly sensitive method for diagnosing Machado-Joseph disease in patients with dominant cerebellar ataxia.
  • This finding can facilitate early diagnosis and intervention.
  • Vestibulo-ocular reflex impairment is a key clinical feature of MJD.

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