Clinical presentation, comorbidities and treatment of GAD antibodies associated stiff person syndrome

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.

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A NEW CLINICAL TOOL (BRIT) TO MONITOR IVIG EFFICACY IN PATIENTS WITH STIFF PERSON SYNDROME

Journal of Neurology Neurosurgery & Psychiatry ◽

10.1136/jnnp-2015-312379.132 ◽

2015 ◽

Vol 86 (11) ◽

pp. e4.38-e4

Author(s):

Savinda Weerasinghe ◽

Girija Sadalage ◽

Saiju Jacob

Keyword(s):

Ivig Therapy ◽

Ivig Treatment ◽

Stiff Person Syndrome ◽

Clinical Tool ◽

Gad Antibodies ◽

General Mental Health ◽

Monitoring Tools ◽

Neurological Conditions ◽

First Time

Stiff person syndrome (SPS) is a chronic, progressive neurological disorder characterized by painful muscle spasms and rigidity with high titres of circulating anti-GAD antibodies.Intravenous immunoglobulin (IVIg) has been proven to be very effective in reducing the symptoms associated with SPS, most notably stiffness. Patients report being able to walk for the first time in months or even years and partake in activities of daily living including showering and household chores. A reduction in falls is also noted in patients receiving IVIg. Most patients report a drastically improved quality of life after receiving IVIg with significant improvement in pain, general mental health, social functioning, vitality and energy.At present, there is no standardised method of monitoring the effectiveness of IVIg treatment in patients with stiff person syndrome. We devised a standardised questionnaire with a combination of modified Rankin scale and Flanagan's QOLS and prospectively studied 12 SPS patients receiving IVIg therapy. We named this the Birmingham Response to IVIg Treatment (BRIT) scale.The BRIT scale can be used to monitor IVIg efficacy in a variety of chronic neurological conditions (especially ones without other monitoring tools, eg: INCAT score for CIDP) and would be a very useful addition to the neurology practice.

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Stiff Person Syndrome and Gluten Sensitivity

Nutrients ◽

10.3390/nu13041373 ◽

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.

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

Arquivos de Neuro-Psiquiatria ◽

10.1590/s0004-282x2012000900002 ◽

2012 ◽

Vol 70 (9) ◽

pp. 657-661 ◽

Cited By ~ 20

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.

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GAD antibodies in stiff-person syndrome

Neurology ◽

10.1212/01.wnl.0000147536.50606.61 ◽

2004 ◽

Vol 63 (11) ◽

pp. 1999-2000 ◽

Cited By ~ 5

Author(s):

T. Chang ◽

B. Lang

Keyword(s):

Stiff Person Syndrome ◽

Gad Antibodies

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Stiff-Eye Syndrome—Anti-GAD Ataxia Presenting with Isolated Ophthalmoplegia: A Case Report

Brain Sciences ◽

10.3390/brainsci11070932 ◽

2021 ◽

Vol 11 (7) ◽

pp. 932

Author(s):

Abel Dantas Belém ◽

Thaís de Maria Frota Vasconcelos ◽

Rafael César dos Anjos de Paula ◽

Francisco Bruno Santana da Costa ◽

Pedro Gustavo Barros Rodrigues ◽

...

Keyword(s):

Motor Neurons ◽

Complete Resolution ◽

Stiff Person Syndrome ◽

Gad Antibodies ◽

Spinal Motor Neurons ◽

Immune Mediated ◽

Progressive Ataxia ◽

Gaze Holding ◽

Cerebellar Ataxias ◽

The Right

Anti-GAD ataxia is one of the most common forms of immune-mediated cerebellar ataxias. Many neurological syndromes have been reported in association with anti-GAD. Ophthalmoparesis has been described in stiff person syndrome. We report a case of anti-GAD ataxia presenting initially with isolated ophthalmoplegia and showing complete resolution after immunotherapy. A 26-year-old male patient presented with ophthalmoparesis characterized by tonic upwards deviation of the right eye. In the following month, he developed progressive ataxia with anti-GAD titers of 1972 UI/mL. After treatment with methylprednisolone and immunoglobulin, there was complete resolution of symptoms and anti-GAD titers decreased. This is the first report of isolated ophthalmoparesis due to tonic eye deviation associated with anti-GAD antibodies without stiff-person syndrome. Tonic eye deviation has been reported in SPS, possibly secondary to continuous discharge in gaze holding neurons in the brainstem (similar to what occurs in spinal motor neurons). With growing evidence for ocular abnormalitites in SPS, anti-GAD associated neurological syndromes should be included in the differential diagnosis of isolated ophthalmoplegia.

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

Journal of Neuromuscular Diseases ◽

10.3233/jnd-200616 ◽

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.

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Movement disorders emergencies: a review

Arquivos de Neuro-Psiquiatria ◽

10.1590/s0004-282x2012000600013 ◽

2012 ◽

Vol 70 (6) ◽

pp. 453-461 ◽

Cited By ~ 16

Author(s):

Renato P. Munhoz ◽

Mariana Moscovich ◽

Patrícia Dare Araujo ◽

Hélio A. G. Teive

Keyword(s):

Malignant Hyperthermia ◽

Neuroleptic Malignant Syndrome ◽

Movement Disorders ◽

Clinical Presentation ◽

Voluntary Movements ◽

Stiff Person Syndrome ◽

Loss Of Control ◽

Drug Reactions ◽

Or Efficiency ◽

Status Dystonicus

Movement disorders (MD) encompass acute and chronic diseases characterized by involuntary movements and/or loss of control or efficiency in voluntary movements. In this review, we covered situations in which the main manifestations are MDs that pose significant risks for acute morbidity and mortality. The authors examine literature data on the most relevant MD emergencies, including those related to Parkinson's disease, acute drug reactions (acute dystonia, neuroleptic malignant syndrome, serotonergic syndrome and malignant hyperthermia), acute exacerbation of chronic MD (status dystonicus), hemiballism and stiff-person syndrome, highlighting clinical presentation, demographics, diagnosis and management.

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