Slowly progressive ataxia, neuropathy, and oculomotor dysfunction

Justin T. Jordan, Gincy Samuel, Steven Vernino, Srikanth Muppidi

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

A 54-year-old white man presented with slowly progressive incoordination and weakness. He had normal motor development until, at 16 years of age, he noted difficulty walking and difficulty reading despite normal visual acuity. By the fourth decade of life, he developed poor coordination and balance, as well as inability to walk. In subsequent years, he developed progressive, painless sensory loss, weakness, and atrophy in his distal arms and legs. His vision problems progressed and he also developed dysarthria without dysphagia. Family history was negative except for an uncle who was described as "clumsy." Results of an oculomotor examination were notable for increased square-wave jerks, persistent bilateral gazeevoked nystagmus with saccadic pursuit, intact vestibulo-ocular reflex, and saccadic dysmetria. He had a mixed dysarthria with flaccid and ataxic characteristics and severe weakness and atrophy in the distal limb muscles. Sensation was diminished to the midforearms and midthighs in all modalities. Deep tendon reflexes were absent throughout, with no response to plantar stimulation. He had marked appendicular ataxia with mild axial ataxia. Magnetic resonance imaging of the brain revealed severe cerebellar atrophy. Results of an electrodiagnostic study suggested a severe axonal sensorimotor polyneuropathy with active and chronic denervation. The differential diagnosis in a patient with ataxia, neuropathy, and oculomotor features is discussed; a methodical approach to the diagnostic workup is suggested; and the final diagnosis is revealed.

Original languageEnglish (US)
Pages (from-to)1366-1371
Number of pages6
JournalArchives of Neurology
Volume69
Issue number10
DOIs
StatePublished - Oct 2012

Fingerprint

Oculomotor Nerve Diseases
Ataxia
Atrophy
Dysarthria
Mobility Limitation
Vestibulo-Ocular Reflex
Abnormal Reflexes
Cerebellar Ataxia
Polyneuropathies
Saccades
Denervation
Deglutition Disorders
Visual Acuity
Reading
Leg
Arm
Differential Diagnosis
Extremities
Magnetic Resonance Imaging
Muscles

ASJC Scopus subject areas

  • Clinical Neurology
  • Arts and Humanities (miscellaneous)

Cite this

Slowly progressive ataxia, neuropathy, and oculomotor dysfunction. / Jordan, Justin T.; Samuel, Gincy; Vernino, Steven; Muppidi, Srikanth.

In: Archives of Neurology, Vol. 69, No. 10, 10.2012, p. 1366-1371.

Research output: Contribution to journalArticle

Jordan, Justin T. ; Samuel, Gincy ; Vernino, Steven ; Muppidi, Srikanth. / Slowly progressive ataxia, neuropathy, and oculomotor dysfunction. In: Archives of Neurology. 2012 ; Vol. 69, No. 10. pp. 1366-1371.
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