scholarly journals Stiff Person Syndrome and Gluten Sensitivity

Nutrients ◽  
2021 ◽  
Vol 13 (4) ◽  
pp. 1373
Author(s):  
Marios Hadjivassiliou ◽  
Panagiotis Zis ◽  
David S. Sanders ◽  
Nigel Hoggard ◽  
Ptolemaios G. Sarrigiannis
Keyword(s):  
Autoimmune Diseases ◽  
Axial Stiffness ◽  
Acid Decarboxylase ◽  
Gluten Sensitivity ◽  
Stiff Person Syndrome ◽  
Gluten Free ◽  
Serological Evidence ◽  
Gad Antibodies ◽  
The Mean

Stiff person syndrome (SPS) is a rare autoimmune disease characterised by axial stiffness and episodic painful spasms. It is associated with additional autoimmune diseases and cerebellar ataxia. Most patients with SPS have high levels of glutamic acid decarboxylase (GAD) antibodies. The aetiology of SPS remains unclear but autoimmunity is thought to play a major part. We have previously demonstrated overlap between anti-GAD ataxia and gluten sensitivity. We have also demonstrated the beneficial effect of a gluten-free diet (GFD) in patients with anti-GAD ataxia. Here, we describe our experience in the management of 20 patients with SPS. The mean age at symptom onset was 52 years. Additional autoimmune diseases were seen in 15/20. Nineteen of the 20 patients had serological evidence of gluten sensitivity and 6 had coeliac disease. Fourteen of the 15 patients who had brain imaging had evidence of cerebellar involvement. Twelve patients improved on GFD and in seven GFD alone was the only treatment required long term. Twelve patients had immunosuppression but only three remained on such medication. Gluten sensitivity plays an important part in the pathogenesis of SPS and GFD is an effective therapeutic intervention.

scholarly journals Glycine receptor antibodies and coeliac disease-related neurological dysfunction

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Lewis Kass-Iliyya ◽  
Ptolemaios G. Sarrigiannis ◽  
David S. Sanders ◽  
Marios Hadjivassiliou
Keyword(s):  
Coeliac Disease ◽  
Glycine Receptor ◽  
Gluten Free Diet ◽  
Neurological Dysfunction ◽  
Acid Decarboxylase ◽  
Gluten Sensitivity ◽  
Gluten Free ◽  
Gad Antibodies ◽  
Cortical Myoclonus ◽  
Receptor Antibodies

AbstractGluten sensitivity can manifest with a spectrum of neurological dysfunction including ataxia, encephalopathy and neuropathy with or without associated coeliac disease (CD). Gluten sensitivity can also present with central nervous system (CNS) hyperexcitability and cortical myoclonus which is often accompanied with refractory CD. CNS hyperexcitability can also be associated with Glutamic Acid Decarboxylase (GAD) antibodies or much less commonly with Glycine Receptor Antibodies (GlyR-Abs) but the direct pathogenic roles of these antibodies remain debatable. We have previously reported a link between gluten sensitivity and anti-GAD associated ataxia which improves with the adoption of gluten-free diet. It is unclear if a similar link exists between gluten driven CNS hyperexcitability and the presence of GlyR-Abs. We report two cases of CD presenting with CNS hyperexcitability and associated GlyR-Abs. Apart from ataxia and cortical myoclonus, one patient had refractory CD and died from enteropathy-associated T-cell lymphoma. The other patient not only improved with strict gluten-free diet but also showed serological elimination of circulating GlyR-Abs. We conclude that there is an interaction between gluten sensitivity and GlyR-Abs-associated CNS hyperexcitability and in such patients gluten-free diet is an important therapeutic intervention. The elimination of GlyR-Abs by the adoption of gluten free diet suggests that these antibodies may represent an epiphenomenon rather than being directly implicated in the pathogenesis.

scholarly journals Cerebellar Ataxia Followed by Stiff Person Syndrome in a Patient with Anti-GAD Antibodies

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Sinali O. Seneviratne ◽  
Katherine A. Buzzard ◽  
Belinda Cruse ◽  
Mastura Monif
Keyword(s):  
Cerebellar Ataxia ◽  
Acid Decarboxylase ◽  
Stiff Person Syndrome ◽  
Gamma Aminobutyric Acid ◽  
Neurological Manifestations ◽  
Rare Occurrence ◽  
Gad Antibodies ◽  
Long Term Follow Up

Anti-GAD antibody syndrome is a result of the production of antibodies against glutamic acid decarboxylase (GAD), the main enzyme responsible for the production of gamma-aminobutyric acid (GABA). Several neurological manifestations including cerebellar ataxia and stiff person syndrome have been reported in association with anti-GAD antibodies. In this paper, we present a case of a young woman with anti-GAD antibodies who initially presented with cerebellar ataxia followed by stiff person syndrome three and a half years later. Having both cerebellar ataxia and stiff person syndrome is a rare occurrence in anti-GAD antibody syndrome. We emphasise the importance of long-term follow-up of patients with anti-GAD antibody syndrome, as delayed neurological manifestations can occur.

scholarly journals Clinical Characteristics and Management of 50 Patients with Anti-GAD Ataxia: Gluten-Free Diet Has a Major Impact

2020 ◽  
Author(s):  
M. Hadjivassiliou ◽  
P. G. Sarrigiannis ◽  
P. D. Shanmugarajah ◽  
D. S. Sanders ◽  
R. A. Grünewald ◽  
...  
Keyword(s):  
Autoimmune Diseases ◽  
Clinical Characteristics ◽  
Age At Onset ◽  
Gluten Free Diet ◽  
Gluten Sensitivity ◽  
Gluten Free ◽  
Progressive Ataxia ◽  
Progressive Cerebellar Ataxia ◽  
Limb Ataxia ◽  
History Of

Abstract The objective of this study is to report the clinical characteristics and treatment of patients with progressive cerebellar ataxia associated with anti-GAD antibodies. We performed a retrospective review of all patients with anti-GAD ataxia managed at the Sheffield Ataxia Centre over the last 25 years. We identified 50 patients (62% females) with anti-GAD ataxia. The prevalence was 2.5% amongst 2000 patients with progressive ataxia of various causes. Mean age at onset was 55 and mean duration 8 years. Gaze-evoked nystagmus was present in 26%, cerebellar dysarthria in 26%, limb ataxia in 44% and gait ataxia in 100%. Nine patients (18%) had severe, 12 (24%) moderate and 29 (58%) mild ataxia. Ninety percent of patients had a history of additional autoimmune diseases. Family history of autoimmune diseases was seen in 52%. Baseline MR spectroscopy of the vermis was abnormal at presentation in 72%. Thirty-five patients (70%) had serological evidence of gluten sensitivity. All 35 went on gluten-free diet (GFD). Eighteen (51%) improved, 13 (37%) stabilised, 3 have started the GFD too recently to draw conclusions and one deteriorated. Mycophenolate was used in 16 patients, 7 (44%) improved, 2 stabilised, 6 have started the medication too recently to draw conclusions and one did not tolerate the drug. There is considerable overlap between anti-GAD ataxia and gluten ataxia. For those patients with both, strict GFD alone can be an effective treatment. Patients with anti-GAD ataxia and no gluten sensitivity respond well to immunosuppression.

scholarly journals Paraneoplastic Stiff Person Syndrome in Early-Stage Breast Cancer with Positive Anti-Amphiphysin Antibodies

2020 ◽  
Vol 12 (3) ◽  
pp. 339-347
Author(s):  
Vitalie Vacaras ◽  
Enia Eleonora Cucu ◽  
Roxana Radu ◽  
Dafin Fior Muresanu
Keyword(s):  
Breast Cancer ◽  
Breast Tumor ◽  
Early Stage ◽  
Acid Decarboxylase ◽  
Muscle Rigidity ◽  
Stiff Person Syndrome ◽  
Gad Antibodies ◽  
Neurologic Disorder ◽  
Muscle Cramps ◽  
Classic Form

Stiff person syndrome (SPS) is a rare neurologic disorder, characterized by muscle rigidity and spasms. Anti-glutamic acid decarboxylase (anti-GAD) antibodies are associated with the classic form of SPS, while antibodies against amphiphysin are associated with the paraneoplastic form of the disease. We present the case of a patient with paraneoplastic SPS, presenting with muscle cramps of lower extremities that progressed to severe muscle rigidity and spasms, associated with a right breast tumor and positive anti-amphiphysin antibodies. Paraneoplastic SPS is a rare neurological disorder, challenging for the physicians both to diagnose and treat.

scholarly journals Quality of Life in Patients with Gluten Neuropathy; Case-Controlled Study

2018 ◽  
Author(s):  
Panagiotis Zis ◽  
Ptolemaios Georgios Sarrigiannis ◽  
Dasappaiah Ganesh Rao ◽  
Marios Hadjivassiliou
Keyword(s):  
Quality Of Life ◽  
Controlled Study ◽  
Gluten Sensitivity ◽  
Gluten Free ◽  
Serological Evidence ◽  
Sf 36 ◽  
And Gender ◽  
Endomysium Antibodies ◽  
Pain Domain

Background: Gluten neuropathy (GN) is defined as an otherwise idiopathic peripheral neuropathy in the presence of serological evidence of gluten sensitivity (positive antigliadin and/or transglutaminase or endomysium antibodies). We aimed to compare the quality of life (QoL) of GN patients with control subjects and to investigate the effect of a gluten free diet (GFD) on the QoL. Methods: All consecutive patients with GN attending a specialist neuropathy clinic were invited to participate. Overall Neuropathy Limitations Scale (ONLS) was used to assess the severity of neuropathy. The SF-36 questionnaire was used to measure participants’ QoL. A strict GFD was defined as effectively been able to eliminate all circulating gluten sensitivity-related antibodies whilst on the diet. Results: Fifty-three patients with GN and 53 age and gender matched controls were recruited. Compared to controls, GN showed significantly worse scores in physical functioning, role limitations due to physical health, energy/fatigue and general health subdomains of SF-36. After having adjusted for age, gender and disease severity, being on a strict GFD correlated with better SF-36 scores on the pain domain of the SF-36 (beta 0.317, p=0.019) and the overall health change domain of the SF-36 (beta 0.306, p=0.017). Conclusion: In GN physical dysfunctioning is the major determinant of poor QoL compared to controls. Routine checking for elimination of gluten sensitivity-related antibodies that results from a strict GFD should be encouraged as such elimination ameliorates the overall pain and health scores, indicating better QoL.

scholarly journals Neurological disorders associated with glutamic acid decarboxylase antibodies: a Brazilian series

2012 ◽  
Vol 70 (9) ◽  
pp. 657-661 ◽  
Author(s):  
Maurício Fernandes ◽  
Renato P. Munhoz ◽  
Paulo Eduardo Mestrinelli Carrilho ◽  
Walter O. Arruda ◽  
Paulo J. Lorenzoni ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Glutamic Acid ◽  
Cerebellar Ataxia ◽  
Glutamic Acid Decarboxylase ◽  
Neurological Disorders ◽  
Acid Decarboxylase ◽  
Stiff Person Syndrome ◽  
Gad Antibodies ◽  
Glutamic Acid Decarboxylase Antibodies

Neurological disorders associated with glutamic acid decarboxylase (GAD) antibodies are rare pleomorphic diseases of uncertain cause, of which stiff-person syndrome (SPS) is the best-known. Here, we described nine consecutive cases of neurological disorders associated with anti-GAD, including nine patients with SPS and three cases with cerebellar ataxia. Additionally, four had hypothyroidism, three epilepsy, two diabetes mellitus and two axial myoclonus.

Subcutaneous Immunoglobulin Therapy with IgPro20 in Patients with Stiff Person Syndrome and Primary Immunodeficiency Disease

2021 ◽  
pp. 1-5
Author(s):  
Olivia Francis ◽  
Avni Joshi ◽  
Ty Prince ◽  
Guha Krishnaswamy ◽  
Niraj C. Patel
Keyword(s):  
Glutamic Acid Decarboxylase ◽  
Immunoglobulin Therapy ◽  
Primary Immunodeficiency Disease ◽  
Acid Decarboxylase ◽  
Stiff Person Syndrome ◽  
Subcutaneous Immunoglobulin ◽  
Gad Antibodies ◽  
Neurologic Disorder ◽  
Muscle Spasms ◽  
Immunodeficiency Disease

Stiff Person Syndrome (SPS), a rare autoimmune neurologic disorder characterized by fluctuating muscle spasms and rigidity, is mediated by autoantibodies to glutamic acid decarboxylase (GAD) antibodies. Symptoms of SPS have been shown to improve after administration of intravenous immunoglobulin (IVIG) however, there is a paucity of information regarding use of SCIg in SPS. Four patients with Stiff Person Syndrome were treated with SCIgPro20 for a period between 31 to 101 months. Most reactions were local and mild. All patients reported improvement in spasticity, and 2 patients reported improvement in seizure frequency. SCIgPro20 was well tolerated in patients with SPS and was associated with improvement in symptoms.

scholarly journals Non-Celiac Gluten Sensitivity in the Context of Functional Gastrointestinal Disorders

Nutrients ◽  
2020 ◽  
Vol 12 (12) ◽  
pp. 3735
Author(s):  
Maria Raffaella Barbaro ◽  
Cesare Cremon ◽  
Diana Wrona ◽  
Daniele Fuschi ◽  
Giovanni Marasco ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Functional Gastrointestinal Disorders ◽  
Self Report ◽  
Western World ◽  
Gastrointestinal Disorders ◽  
Gluten Sensitivity ◽  
Gluten Free ◽  
Double Blind ◽  
Irritable Bowel

Gluten-free diets are increasingly chosen in the Western world, even in the absence of a diagnosis of celiac disease. Around 10% of people worldwide self-report gluten-related complaints, including intestinal and extra-intestinal symptoms. In most cases, these subjects would be labeled as patients suffering from irritable bowel syndrome (IBS) who place themselves on a gluten-free diet even in the absence of celiac disease. In some instances, patients report a clear benefit by avoiding gluten from their diet and/or symptom worsening upon gluten reintroduction. This clinical entity has been termed non-celiac gluten sensitivity (NCGS). The symptoms referred by these patients are both intestinal and extra-intestinal, suggesting that similarly to functional gastrointestinal disorders, NCGS is a disorder of gut–brain interaction. It remains unclear if gluten is the only wheat component involved in NCGS. The mechanisms underlying symptom generation in NCGS remain to be fully clarified, although in the past few years, the research has significantly moved forward with new data linking NCGS to changes in gut motility, permeability and innate immunity. The diagnosis is largely based on the self-reported reaction to gluten by the patient, as there are no available biomarkers, and confirmatory double-blind challenge protocols are unfeasible in daily clinical practice. Some studies suggest that a small proportion of patients with IBS have an intolerance to gluten. However, the benefits of gluten-free or low-gluten diets in non-celiac disease-related conditions are limited, and the long-term consequences of this practice may include nutritional and gut microbiota unbalance. Here, we summarize the role of gluten in the clinical features, pathophysiology, and management of NCGS and disorders of gut–brain interaction.

Acute and Chronic Changes in Platelet Volume and Count After Cardiopulmonary Bypass Induced Thrombocytopenia in Man

1987 ◽  
Vol 57 (01) ◽  
pp. 55-58 ◽  
Author(s):  
J F Martin ◽  
T D Daniel ◽  
E A Trowbridge
Keyword(s):  
Platelet Count ◽  
Mean Platelet Volume ◽  
Artery Bypass ◽  
Bypass Graft ◽  
Control Group ◽  
Artery Bypass Graft ◽  
Platelet Volume ◽  
Young Males ◽  
The Mean

SummaryPatients undergoing surgery for coronary artery bypass graft or heart valve replacement had their platelet count and mean volume measured pre-operatively, immediately post-operatively and serially for up to 48 days after the surgical procedure. The mean pre-operative platelet count of 1.95 ± 0.11 × 1011/1 (n = 26) fell significantly to 1.35 ± 0.09 × 1011/1 immediately post-operatively (p <0.001) (n = 22), without a significant alteration in the mean platelet volume. The average platelet count rose to a maximum of 5.07 ± 0.66 × 1011/1 between days 14 and 17 after surgery while the average mean platelet volume fell from preparative and post-operative values of 7.25 ± 0.14 and 7.20 ± 0.14 fl respectively to a minimum of 6.16 ± 0.16 fl by day 20. Seven patients were followed for 32 days or longer after the operation. By this time they had achieved steady state thrombopoiesis and their average platelet count was 2.44 ± 0.33 × 1011/1, significantly higher than the pre-operative value (p <0.05), while their average mean platelet volume was 6.63 ± 0.21 fl, significantly lower than before surgery (p <0.001). The pre-operative values for the platelet volume and counts of these patients were significantly different from a control group of 32 young males, while the chronic post-operative values were not. These long term changes in platelet volume and count may reflect changes in the thrombopoietic control system secondary to the corrective surgery.

Multi-Center Calibration of the Second Reference Material for Thromboplastin, Rabbit, Plain, Coded CRM 149R

1991 ◽  
Vol 65 (03) ◽  
pp. 263-267 ◽  
Author(s):  
A M H P van den Besselaar ◽  
R M Bertina
Keyword(s):  
Reference Material ◽  
Standard Error ◽  
Standard Errors ◽  
Sensitivity Index ◽  
Long Term Stability ◽  
Significant Bias ◽  
The Mean ◽  
The Relationship ◽  
International Sensitivity Index

SummaryIn a collaborative trial of eleven laboratories which was performed mainly within the framework of the European Community Bureau of Reference (BCR), a second reference material for thromboplastin, rabbit, plain, was calibrated against its predecessor RBT/79. This second reference material (coded CRM 149R) has a mean International Sensitivity Index (ISI) of 1.343 with a standard error of the mean of 0.035. The standard error of the ISI was determined by combination of the standard errors of the ISI of RBT/79 and the slope of the calibration line in this trial.The BCR reference material for thromboplastin, human, plain (coded BCT/099) was also included in this trial for assessment of the long-term stability of the relationship with RBT/79. The results indicated that this relationship has not changed over a period of 8 years. The interlaboratory variation of the slope of the relationship between CRM 149R and RBT/79 was significantly lower than the variation of the slope of the relationship between BCT/099 and RBT/79. In addition to the manual technique, a semi-automatic coagulometer according to Schnitger & Gross was used to determine prothrombin times with CRM 149R. The mean ISI of CRM 149R was not affected by replacement of the manual technique by this particular coagulometer.Two lyophilized plasmas were included in this trial. The mean slope of relationship between RBT/79 and CRM 149R based on the two lyophilized plasmas was the same as the corresponding slope based on fresh plasmas. Tlowever, the mean slope of relationship between RBT/79 and BCT/099 based on the two lyophilized plasmas was 4.9% higher than the mean slope based on fresh plasmas. Thus, the use of these lyophilized plasmas induced a small but significant bias in the slope of relationship between these thromboplastins of different species.

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