Expanding clinical profiles and prognostic markers in stiff person syndrome spectrum disorders

Journal of Neurology, Journal Year: 2023, Volume and Issue: 271(4), P. 1861 - 1872

Published: Dec. 11, 2023

Abstract Objective To describe the clinical features of a cohort individuals with stiff person syndrome spectrum disorders (SPSD) and identify potential early predictors future disability. Background There is need to better understand full paraclinical long-term impact SPSD. Design/Methods Observational study from 1997 2022 at Johns Hopkins. Clinical phenotypes included classic SPS, partial SPS (limb or trunk limited), SPS-plus (classic plus cerebellar/brainstem involvement), progressive encephalomyelitis rigidity myoclonus (PERM). Outcome measures were modified Rankin scale (mRS) use assistive device for ambulation. Multivariate logistic regression was used assess significant outcomes. Results Cohort 227 SPSD mean follow-up 10 years; 154 classic, 48 SPS-plus, 16 PERM, 9 partial. Mean age symptom onset 42.9 ± 14.1 years, majority white (69.2%) female (75.8%). Median time diagnosis 36.2 months (longest PERM) 61.2% initially misdiagnosed. Most had systemic co-morbidities required devices Female sex (OR 2.08; CI 1.06–4.11) initial brainstem/cerebellar involvement 4.41; 1.63–14.33) predicted worse outcome by mRS. Older 1.04; 1.01–1.06), 1.99; 1.01–4.01), Black race 4.14; 1.79–10.63), 2.44; 1.04–7.19) device. Early implementation immunotherapy associated outcomes either mRS 0.45; 0.22–0.92) 0.79; 0.66–0.94). Conclusions We present expanding phenotypic variability this rare highlight

Language: Английский

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Therapeutic plasma exchange in the management of stiff person syndrome spectrum disorders: a case series and review of the literature

Therapeutic Advances in Neurological Disorders, Journal Year: 2023, Volume and Issue: 16

Published: Jan. 1, 2023

Background: Stiff person syndrome spectrum disorders (SPSD) are a rare group of disabling neuroimmunological disorders. SPSD often requires immune therapies, especially in the setting inadequate response to symptomatic treatments. The safety and efficacy therapeutic plasma exchange (TPE) remains uncertain. Objectives: To describe safety, tolerability, TPE patients with SPSD. Design: A retrospective observational study. Methods: review seen at Johns Hopkins Hospital (JHH) from 1997 2021 was performed. Patient demographics/history, examination/diagnostic findings, treatment response, TPE-related complications were recorded. Assessment for any associations between clinical characteristics, including age, sex, phenotype, time on immunotherapy, 3 months after subgroup 18 treated JHH 6 outside institutions evaluated change usage medications treatment. Literature also conducted. Results: Thirty-nine (21 institutions); median age 48 years, 77% female, modified Rankin Scale 3; mean initial anti-GAD65 antibody titer 23,508 U/mL. Twenty-four (62%) had classic SPS, 10 (26%) SPS-plus, 2 (5%) progressive encephalomyelitis rigidity myoclonus, (8%) pure cerebellar ataxia. All treatments, 30 (77%) previously received IVIg, rituximab. Four (10%) adverse event. One developed asymptomatic hypotension, another both line thrombosis infection, two non-life-threatening bleeding events. Twenty-three (59%) reported improvement symptoms TPE. Of 24 treatment, 14 (58%) required fewer GABAergic medications. identified 57 additional SPSD; 43 (75%) temporary Conclusion: majority improvement. Moreover, most no longer as much appears safe well-tolerated Further studies needed assess long-term identify which may benefit

Language: Английский

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Case Report: Brain tumor’s pitfalls: two cases of high-grade brain tumors mimicking autoimmune encephalitis with positive onconeuronal antibodies

Frontiers in Oncology, Journal Year: 2023, Volume and Issue: 13

Published: Aug. 24, 2023

Glioblastoma (GBM) is the most common primary brain tumor in adulthood. Initial diagnosis generally based on clinical and MRI findings, which may be misinterpreted as other neurological pictures, including autoimmune encephalitis (AE). AE a heterogeneous group of neuroinflammatory diseases due to presence auto-antibodies targeting antigens neuronal synaptic or cell surface. In present report, we describe two peculiar cases GBM initially misdiagnosed AE, focusing diagnostic pitfalls treatment strategies.We report case patients with high-grade tumors, treated for AE. Clinical, laboratory, neuroradiological data are discussed terms differential between GBM.The atypical findings unresponsiveness immunosuppressive major red flags GBM. these cases, biopsy necessary confirm diagnosis.Atypical presentation causes therapeutic delay. A positive onconeural autoantibodies result should always interpreted cautiously, considering possibility false-positive test. mandatory definite diagnosis.

Language: Английский

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Respiratory symptoms are common in stiff person syndrome spectrum disorders and are associated with number of body regions involved

European Journal of Neurology, Journal Year: 2023, Volume and Issue: 30(8), P. 2498 - 2505

Published: May 8, 2023

Abstract Background and purpose Stiff person syndrome (SPS) spectrum disorders (SPSSD) cause spasms rigidity throughout different body regions can be associated with apnea acute respiratory failure. There are limited data on the prevalence predictors of symptoms (RSwS) in SPSSD. We sought to characterize spirometry patterns frequency RSwS a large SPSSD cohort. Methods Participants were recruited from Johns Hopkins SPS Center between 1997 2021, as part an ongoing, longitudinal observational study. Medical records reviewed assess demographics clinical characteristics. Data analyzed using descriptive statistics multivariable logistic regression models. Results One‐hundred ninety‐nine participants (mean age = 53.4 ± 13.6 years, median time diagnosis 36 [IQR 66] months, 74.9% women, 69.8% White, 62.8% classic phenotype) included final analyses; 35.2% reported RSwS, whom 24.3% underwent routine care. Obstructive (23.5%) restrictive most commonly observed those An increasing number involved predicted presence (odds ratio [OR] 1.95, 95% confidence interval [CI] 1.50–2.53); ≥5 (vs. ≤4) had higher odds (OR 6.19, CI 2.81–13.62) experiencing adjusted Two patients died SPSSD‐associated compromise. Conclusions common may by Close monitoring having low threshold obtain should considered people

Language: Английский

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An update on malignant tumor-related stiff person syndrome spectrum disorders: clinical mechanism, treatment, and outcomes

Frontiers in Neurology, Journal Year: 2023, Volume and Issue: 14

Published: Oct. 4, 2023

Stiff person syndrome (SPS) is a rare central nervous system disorder associated with malignancies. In this review, we retrieved information from PubMed, up until August 2023, using various search terms and their combinations, including SPS, stiff spectrum disorders (SPSSDs), paraneoplastic, cancer, malignant tumor. Data peer-reviewed journals printed in English were organized to explain the possible relationships between different carcinomas SPSSD subtypes, as well related autoantigens. From literature searching, it was revealed that breast cancer most prevalent carcinoma linked SPSSDs, followed by lung lymphoma. Furthermore, classic SPS common subtype, limb progressive encephalomyelitis rigidity myoclonus. GAD65 autoantigen patients amphiphysin GlyR. Patients subtypes might have multiple conversely, subtypes. The first aim of review highlight complex nature among cancers, autoantigens, SPSSDs new field continues be generated globally. adoption an open-minded approach updating on recommended renew our database. second discuss animal models, which will help us understand mechanisms underlying pathogenesis SPS. future, elucidating relationship critical for early prediction discovery therapeutic modalities.

Language: Английский

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