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This Article Figures Only Full Text Full Text (PDF) Take the CME quiz CME: Take the course for this article: Volume 71, Number 24, December 9, 2008 Podcast Korean Translation All Versions of this Article: 01.wnl.0000327342.58936.e0v1 71/24/1955    most recent Correspondence: Submit a response Correspondence: View responses Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Murinson, B. B. Articles by Guarnaccia, J. B. Search for Related Content PubMed PubMed Citation Articles by Murinson, B. B. Articles by Guarnaccia, J. B. Related Collections Autoimmune diseases Paraneoplastic syndrome EMG Stiff person syndrome Related Article

Stiff-person syndrome with amphiphysin antibodies

Distinctive features of a rare disease

From the Department of Neurology (B.B.M.), Johns Hopkins School of Medicine, Baltimore, MD; and Department of Neurology (J.B.G.), Yale School of Medicine, New Haven, CT.

Address correspondence and reprint requests to Dr. Beth B. Murinson, 600 N. Wolfe Street, Pathology 509, Baltimore, MD 21287 bb{at}jhmi.edu

Background: Stiff-person syndrome (SPS), formerly Stiff-man syndrome, is a rare autoimmune disease usually exhibiting severe spasms and thoracolumbar stiffness, with very elevated glutamic acid decarboxylase antibodies (GAD Ab). A paraneoplastic variant, less well characterized, is associated with amphiphysin antibodies (amphiphysin Ab). The objective of this study was to identify distinctive clinical features of amphiphysin Ab-associated SPS.

Methods: Records associated with 845 sera tested in the Yale SPS project were examined, and 621 patients with clinically suspected SPS were included in the study. Clinical characteristics were assessed with correction for multiple comparisons.

Results: In all, 116 patients had GAD antibodies and 11 patients had amphiphysin Ab; some clinical information was available for 112 and 11 of these patients, respectively. Patients with amphiphysin Ab-associated SPS were exclusively female; mean age was 60. All except one had breast cancer; none had diabetes. Compared to patients with GAD Ab-associated SPS, those with amphiphysin Ab were older (p = 0.02) and showed a dramatically different stiffness pattern (p < 0.0000001) with cervical involvement more likely, p 0.001. Electromyography showed continuous motor unit activity or was reported positive in eight. Benzodiazepines at high dose (average 50 mg/day diazepam) were partially effective. Four patients were steroid responsive and tumor excision with chemotherapy produced marked clinical improvement in three of five patients.

Conclusions: Amphiphysin Ab-associated stiff-person syndrome is strongly associated with cervical region stiffness, female sex, breast cancer, advanced age, EMG abnormalities, and benzodiazepine responsiveness. The condition may respond to steroids and can dramatically improve with cancer treatment.

Abbreviations: EAE = experimental autoimmune encephalitis; GAD Ab = glutamic acid decarboxylase antibodies; ICC = immunocytochemistry; PERM = progressive variant with encephalomyelitis, rigidity, and myoclonus; SPS = stiff-person syndrome.

Editorial, page 1938

e-Pub ahead of print on October 29, 2008, at www.neurology.org.

Supported in part by NIH career development grant NS048146 (B.B.M.) and the Stephen Hyde Fund for SPS Research (B.B.M.).

Disclosure: The authors report no disclosures.

Received February 25, 2008. Accepted in final form June 13, 2008.

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Neurology 2008 71: 1938-1939. [Full Text] [PDF]

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