Document Detail

Paraneoplastic jaw dystonia and laryngospasm with antineuronal nuclear autoantibody type 2 (anti-Ri).
MedLine Citation:
PMID:  20837856     Owner:  NLM     Status:  MEDLINE    
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.
Sean J Pittock; Joseph E Parisi; Andrew McKeon; Shanu F Roemer; Claudia F Lucchinetti; K Meng Tan; B Mark Keegan; Samuel F Hunter; Paul R Duncan; Joachim M Baehring; Joseph Y Matsumoto; Vanda A Lennon
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Archives of neurology     Volume:  67     ISSN:  1538-3687     ISO Abbreviation:  Arch. Neurol.     Publication Date:  2010 Sep 
Date Detail:
Created Date:  2010-09-14     Completed Date:  2010-10-01     Revised Date:  2014-07-30    
Medline Journal Info:
Nlm Unique ID:  0372436     Medline TA:  Arch Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1109-15     Citation Subset:  AIM; IM    
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MeSH Terms
Antibodies, Antinuclear / immunology
Antibodies, Neoplasm / immunology*
Brain / immunology,  pathology*
Dystonic Disorders / immunology*,  pathology,  physiopathology
Follow-Up Studies
Jaw / immunology*,  pathology,  physiopathology
Laryngismus / immunology*,  pathology,  physiopathology
Middle Aged
Paraneoplastic Syndromes / immunology*,  pathology,  physiopathology
Retrospective Studies
Reg. No./Substance:
0/ANNA-2 antibody, human; 0/Antibodies, Antinuclear; 0/Antibodies, Neoplasm
Comment In:
Arch Neurol. 2011 Mar;68(3):399   [PMID:  21403033 ]

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