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Arch Neurol. 2010 Sep;67(9):1109-15. doi: 10.1001/archneurol.2010.209.

Paraneoplastic jaw dystonia and laryngospasm with antineuronal nuclear autoantibody type 2 (anti-Ri).

Author information

1
Mayo Medical School College of Medicine, Mayo Clinic, Rochester, MN 55905, USA. pittock.sean@mayo.edu

Abstract

BACKGROUND:

Opsoclonus-myoclonus syndrome and breast carcinoma were initially described as neurologic and oncologic accompaniments of antineuronal nuclear autoantibody type 2 (ANNA-2, also known as anti-Ri). However, the neurologic spectrum of ANNA-2 autoimmunity is broader, includes a syndrome of jaw dystonia and laryngospasm, and can be accompanied by lung carcinoma.

OBJECTIVE:

To describe clinically (with a video) ANNA-2-associated jaw dystonia and laryngospasm, its pathologic correlates, and therapeutic outcomes.

DESIGN:

Retrospective case series with prospective clinical follow-up.

SETTING:

Mayo Clinic's Neuroimmunology Laboratory, Rochester, Minnesota.

PATIENTS:

Consecutive patients with ANNA-2 seropositivity identified since January 1, 1990.

MAIN OUTCOME METHODS:

Clinical (in 9 patients) and neuropathologic (in 2 patients) findings were reviewed.

RESULTS:

Of 48 patients with ANNA-2 seropositivity, 9 (19%) had multifocal neurologic manifestations that included jaw dystonia and laryngospasm. Among 6 patients with jaw dystonia, 5 had severely impaired nutrition, causing profound weight loss. Five patients had documented laryngospasm, which contributed to 1 patient's death. Neuropathologic examination revealed diffuse infiltration by CD8(+) T lymphocytes, with axonal loss and gliosis in brainstem and descending spinal cord tracts. Some patients improved symptomatically after immunosuppressant or cytotoxic therapies; 1 patient improved after treatment with botulinum toxin. One patient who underwent tracheostomy because of recurrent laryngospasm was alive and well longer than 3 years after symptom onset.

CONCLUSIONS:

Jaw dystonia and laryngospasm are common accompaniments of ANNA-2 autoimmunity and are associated with significant morbidity. We propose that selective damage to antigen-containing inhibitory fibers innervating bulbar motor nuclei by CD8(+) T lymphocytes (histopathologically observed infiltrating brainstem reticular formation) is the proximal cause of this syndrome. Early and aggressive therapy offers the prospect of neurologic improvement or stabilization.

PMID:
20837856
DOI:
10.1001/archneurol.2010.209
[Indexed for MEDLINE]

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