Extremely rare coincidence of non-radiographic axial spondyloarthropathy HLA-B27 positive and Stiff Person Syndrome – rheumatologist point of view

Marinović, Ivanka; Pivalica, Dinko; Aljinović, Jure; Vlak, Tonko; Škorić, Ela; Kaliterna, Dušanka Martinović

doi:10.3109/14397595.2013.857837

Cited by 3 publications

(2 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…De la Casa-Fages et al 56 Damasio et al 57 Marinovic et al 58 Nakane et al 59 O'Toole et al 60 Sidransky et al 61 Sengupta et al 62 2013 63 Bordelon et al 64 Enuh et al 65 Fourlanos et al 66 Georgieva et al 67 Ho et al 68 Jung et al 69 Pagano et al 30 Rana et al 70 Sanders et al 71 Stern et al 72 Wuerfel et al 73 Bowen et al 29 Farooqi , and seven were positive for the following antibodies: three for anti-thyroid antibodies; two against parietal cells; one for antiamphiphysin; one for rheumatologic antibodies (Anti-Sjögren'ssyndrome-related antigen A and anti-nuclear antibody); 23 one for non-specific immunoglobulin (Ig)M against tick-borne meningoencephalitis; and one for anti-N-methyl-D-aspartate receptor antibodies. Four of these seven patients had two or more detectable autoantibodies in serum.…”

Section: Referencementioning

confidence: 99%

Clinical Spectrum of Stiff Person Syndrome: A Review of Recent Reports

Sarva

Deik

Ullah

et al. 2016

Tremor and Other Hyperkinetic Movements

View full text Add to dashboard Cite

Background: ''Classic'' stiff person syndrome (SPS) features stiffness, anti-glutamic acid decarboxylase (anti-GAD) antibodies, and other findings. Anti-GAD antibodies are also detected in some neurological syndromes (such as ataxia) in which stiffness is inconsistently present. Patients with otherwise ''classic'' SPS may either lack anti-GAD antibodies or be seropositive for others. Hence, SPS cases appear to fall within a clinical spectrum that includes conditions such as progressive encephalomyelitis with rigidity and myoclonus (PERM), which exhibits brainstem and autonomic features. We have compiled herein SPS-spectrum cases reported since 2010, and have segregated them on the basis of likely disease mechanism (autoimmune, paraneoplastic, or cryptogenic) for analysis. Methods: The phrases ''stiff person syndrome'', ''PERM'', ''anti-GAD antibody syndrome'', and ''glycine receptor antibody neurological disorders'' were searched for in PubMed in January 2015. The results were narrowed to 72 citations after excluding non-English and duplicate reports. Clinical descriptions, laboratory data, management, and outcomes were categorized, tabulated, and analyzed. Results: Sixty-nine autoimmune, 19 paraneoplastic, and 13 cryptogenic SPS-spectrum cases were identified. SPS was the predominant diagnosis among the groups. Roughly two-thirds of autoimmune and paraneoplastic cases were female. Anti-GAD antibodies were most frequently identified, followed by antiamphiphysin among paraneoplastic cases and by anti-glycine receptor antibodies among autoimmune cases. Benzodiazepines were the most commonly used medications. Prognosis seemed best for cryptogenic cases; malignancy worsened that of paraneoplastic cases. Discussion: Grouping SPS-spectrum cases by pathophysiology provided insights into work-up, treatment, and prognosis. Ample phenotypic and serologic variations are present within the categories. Ruling out malignancy and autoimmunity is appropriate for suspected SPS-spectrum cases.

show abstract

Section: Referencementioning

confidence: 99%

Clinical Spectrum of Stiff Person Syndrome: A Review of Recent Reports

Sarva

Deik

Ullah

et al. 2016

Tremor and Other Hyperkinetic Movements

View full text Add to dashboard Cite

show abstract

“…Supplementary descriptions of an association of sporadic SPS to other HLA class II haplotypes already exist with the conclusion of a primary DQ effect on anti-GAD65 AINS [ 65 , 69 ]. Isolated case reports also describe an occurrence of SPS in HLA-B27-positive patients of non-neurological concomitant diseases (HLA B27 and spondyloarthropathy [ 70 ]; HLA B27 and Hodgkin’s lymphoma [ 71 ]). Recently, Strippel and colleagues performed a genome-wide association study (GWAS) and an associated analysis of the HLA region in a large German cohort of 167 patients with anti-GAD65 AINS, 48 of which with SPS, and 1047 control patients without neurological or endocrine disease [ 72 ].…”

Section: Anti-gad65-associated Neurological Syndromes and Geneticsmentioning

confidence: 99%

Stiff Person Spectrum Disorders—An Update and Outlook on Clinical, Pathophysiological and Treatment Perspectives

Vlad,

Wang,

Newsome

et al. 2023

Biomedicines

View full text Add to dashboard Cite

Stiff person spectrum disorders (SPSD) are paradigm autoimmune movement disorders characterized by stiffness, spasms and hyperekplexia. Though rare, SPSD represent a not-to-miss diagnosis because of the associated disease burden and treatment implications. After decades as an enigmatic orphan disease, major advances in our understanding of the evolving spectrum of diseases have been made along with the identification of multiple associated autoantibodies. However, the most important recent developments relate to the recognition of a wider affection, beyond the classic core motor symptoms, and to further insights into immunomodulatory and symptomatic therapies. In this review, we summarize the recent literature on the clinical and paraclinical spectrum, current pathophysiological understanding, as well as current and possibly future therapeutic strategies.

show abstract