908 results match your criteria Stiff Person Syndrome


GAD antibodies in neurological disorders - insights and challenges.

Nat Rev Neurol 2020 May 26. Epub 2020 May 26.

Neuroimmunology Program, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, University of Barcelona, Barcelona, Spain.

Antibodies to glutamic acid decarboxylase (GAD) have been associated with several neurological syndromes, including stiff-person syndrome, cerebellar ataxia and epilepsy. These antibodies were first described in 1988, but several controversies about GAD autoimmunity still remain. No criteria exist to establish when a neurological syndrome is pathogenically linked to GAD antibodies, often leading to the assumption that any syndrome in which these antibodies are present is immune mediated, sometimes resulting in misdiagnosis and unnecessary treatment. Read More

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http://dx.doi.org/10.1038/s41582-020-0359-xDOI Listing

Neurological Syndromes Associated with Anti-GAD Antibodies.

Int J Mol Sci 2020 May 24;21(10). Epub 2020 May 24.

AP-HP, Groupe Hospitalier Pitié-Salpêtrière, service de Neurologie 2-Mazarin, 75013 Paris, France.

Glutamic acid decarboxylase (GAD) is an intracellular enzyme whose physiologic function is the decarboxylation of glutamate to gamma-aminobutyric acid (GABA), the main inhibitory neurotransmitter within the central nervous system. GAD antibodies (Ab) have been associated with multiple neurological syndromes, including stiff-person syndrome, cerebellar ataxia, and limbic encephalitis, which are all considered to result from reduced GABAergic transmission. The pathogenic role of GAD Ab is still debated, and some evidence suggests that GAD autoimmunity might primarily be cell-mediated. Read More

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http://dx.doi.org/10.3390/ijms21103701DOI Listing

Stiff-person syndrome in a patient with comorbid bipolar and panic disorders: A case report and literature review.

Ment Health Clin 2020 May 7;10(3):95-99. Epub 2020 May 7.

Stiff-person syndrome (SPS) is a neurologic disorder characterized by muscle stiffness, rigidity, and muscle spasms, and it can increase a patient's risk for falls. It is recognized as a rare disease with limited clinical guidelines to manage the condition and its symptoms. Currently, there is even less clinical guidance for the management of common comorbid conditions in these patients. Read More

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http://dx.doi.org/10.9740/mhc.2020.05.095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7213949PMC

Clinical characteristics of GAD 65 associated autoimmune encephalitis.

Acta Neurol Scand 2020 May 16. Epub 2020 May 16.

Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100070, P.R. China.

Objectives: To examine the clinical characteristics of autoimmune encephalitis associated with the glutamate decarboxylase 65 (GAD 65) antibody.

Materials And Methods: Medical records of all patients that diagnosed with GAD65 antibody-associated encephalitis were retrospectively analyzed. Data regarding demographics and symptoms, neurological signs, laboratory and imaging results, treatment and prognosis were collected. Read More

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http://dx.doi.org/10.1111/ane.13281DOI Listing

Possible link of genetic variants to autoimmunity in GAD-antibody-associated neurological disorders.

J Neurol Sci 2020 Jun 29;413:116860. Epub 2020 Apr 29.

Institute of Clinical Neuroimmunology, University Hospital and Biomedical Center, Ludwig-Maximilians University Munich, Munich, Germany.

Objective: In patients with GAD-antibody (ab) associated neurological disorders coexistence of other autoimmune disorders is observed.

Methods: In this exploratory study we analysed variations in 33 candidate genes involved in autoimmunity or representing immunological check-points using next-generation sequencing. We performed haplotype-analysis of HLA-DRB1 and HLA-DQB1. Read More

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http://dx.doi.org/10.1016/j.jns.2020.116860DOI Listing

Limited Utility for Benzodiazepines in Chronic Pain Management: A Narrative Review.

Authors:
Steven L Wright

Adv Ther 2020 Jun 6;37(6):2604-2619. Epub 2020 May 6.

Alliance for Benzodiazepine Best Practices, Littleton, CO, USA.

Introduction: Controversy and uncertainty exist about the use of benzodiazepine receptor agonists (BZRAs) in pain management. This article curates available research to determine the appropriate role of BZRAs in the course of pain management, and how prescribers might address these challenges.

Methods: A narrative review was performed to determine the appropriate role of BZRAs in pain management and to develop practice recommendations. Read More

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http://dx.doi.org/10.1007/s12325-020-01354-6DOI Listing

C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia: A case report.

Medicine (Baltimore) 2020 Apr;99(17):e19968

Xiamen Children's Hospital, Xiamen, China.

Introduction: Hyperekplexia is a rare hereditary neurological disorder; only 5 glycine receptor alpha 1 subunit gene (GLRA1) mutations have been reported in 5 Chinese patients. We report a Chinese infant with hyperekplexia and a novel mutation at c.292G > A. Read More

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http://dx.doi.org/10.1097/MD.0000000000019968DOI Listing

Pseudoagoraphobia, a Diagnostic Clue in Stiff-Limb Syndrome.

Mov Disord Clin Pract 2020 Apr 5;7(3):313-317. Epub 2020 Mar 5.

Neurology, Neurophysiology and Neurobiology Unit, Department of Medicine Università Campus Bio-Medico di Roma Rome Italy.

Background: Stiff-limb syndrome is part of stiff person spectrum, presenting with fluctuating gait disorders attributed to leg stiffness, spasms, and posturing. It could also manifest with anxiety and specific phobias such as pseudoagoraphobia. We aimed to describe the importance of specific gait phobia as a diagnostic clue to anti-glutamic acid decarboxylase stiff-limb syndrome. Read More

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http://dx.doi.org/10.1002/mdc3.12911DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7111565PMC

Intranasal midazolam for treating acute respiratory crises in a woman with stiff person syndrome.

Neurol Neuroimmunol Neuroinflamm 2020 Jul 1;7(4). Epub 2020 Apr 1.

From the Department of Brain and Behavioral Sciences (G. Cosentino, C.T.), University of Pavia; Clinical Neurophysiology Unit (G. Cosentino, E.A.), IRCCS Mondino Foundation, Pavia; Neurophysiopathology Department (M.R.), Villa Sofia-Cervello Hospital; Division of Pulmonology (DIBIMIS) (M.A.), Department of Internal Medicine, Villa Sofia-Cervello Hospital, Palermo; Department of Biomedicine Neuroscience and Advanced Diagnostics (F.B.), University of Palermo; Neurorehabilitation Unit (C.T.), IRCCS Mondino Foundation, Pavia; and Institute for Biomedical Research and Innovation (G. Crescimanno), Italian National Research Council, Palermo; Centre for Respiratory Complications of Neuromuscular Rare Disease (G. Crescimanno), Villa Sofia-Cervello Hospital, Palermo, Italy.

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http://dx.doi.org/10.1212/NXI.0000000000000715DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7176251PMC

Intravenous methylprednisolone or immunoglobulin for anti-glutamic acid decarboxylase 65 antibody autoimmune encephalitis: which is better?

BMC Neurosci 2020 03 30;21(1):13. Epub 2020 Mar 30.

Department of Neurology, Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases, 119 South Fourth Ring West Road, Fengtai District, Beijing, 100070, People's Republic of China.

Background: Patients positive for anti-glutamic acid decarboxylase 65 (GAD65) antibodies have attracted increasing attention. Their clinical manifestations are highly heterogeneous and can be comorbid with tumors. Currently, there is no consensus on the therapeutic regimen for anti-GAD65-associated neurological diseases due to the clinical complexity, rarity and sporadic distribution. Read More

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http://dx.doi.org/10.1186/s12868-020-00561-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7106675PMC

Primary DQ effect in the association between HLA and neurological syndromes with anti-GAD65 antibodies.

J Neurol 2020 Mar 9. Epub 2020 Mar 9.

French Reference Center on Paraneoplastic Neurological Syndromes and Autoimmune Encephalitis, Hospices Civils de Lyon, Hôpital Neurologique, 59 Boulevard Pinel, 69677, Bron Cedex, France.

The primary cause of neurological syndromes with antibodies against glutamic acid decarboxylase 65 (GAD65-Ab) is unknown, but genetic predisposition may exist as it is suggested by the co-occurrence in patients and their relatives of other organ-specific autoimmune diseases, notably type 1 diabetes mellitus (T1DM), and by the reports of a few familial cases. We analyzed the human leukocyte antigen (HLA) in 32 unrelated patients and compared them to an ethnically matched sample of 137 healthy controls. Four-digit resolution HLA alleles were imputed from available Genome Wide Association data, and full HLA next-generation sequencing-based typing was also performed. Read More

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http://dx.doi.org/10.1007/s00415-020-09782-8DOI Listing

Neurologic syndromes related to anti-GAD65: Clinical and serologic response to treatment.

Neurol Neuroimmunol Neuroinflamm 2020 May 2;7(3). Epub 2020 Mar 2.

From the Department of Neurology (A.M.-L., M.A.A.M.d.B., A.E.M.B., M.M.P.N., E.S.P.H., A.J.W.B., R.F.N., J.M.d.V., P.A.E.S.S., M.J.T.) and Department of Immunology (S.B., M.W.J.S.), Erasmus MC University Medical Center; Department of Neurology (A.M.-L.), IDIBAPS, Barcelona, Spain; and Health Care Provider of the European Reference Network on Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN-RITA) (M.J.T.), Rotterdam, the Netherlands.

Objective: Antibodies against glutamic acid decarboxylase 65 (anti-GAD65) are associated with a number of neurologic syndromes. However, their pathogenic role is controversial. Our objective was to describe clinical and paraclinical characteristics of anti-GAD65 patients and analyze their response to immunotherapy. Read More

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http://dx.doi.org/10.1212/NXI.0000000000000696DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7136051PMC

Improvement of stiff-person syndrome symptoms in pregnancy: Case series and literature review.

Neurol Neuroimmunol Neuroinflamm 2020 May 25;7(3). Epub 2020 Feb 25.

From the Geisinger Health System (M.E.E.), Danville, PA; and Johns Hopkins University (S.D.N.), Baltimore, MD.

Objective: To describe 2 cases from a single academic institution of improvement in stiff-person syndrome (SPS) symptoms during pregnancy and to review the clinical outcomes of SPS in 6 additional pregnancies described in the literature.

Methods: Evaluation of clinical symptoms and treatment changes of disease state during pregnancy.

Results: Seven patients with 9 pregnancies are described in women with a diagnosis of SPS. Read More

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http://dx.doi.org/10.1212/NXI.0000000000000684DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7051215PMC

Stiff Person Syndrome and Acetylcholine Receptor Ganglionic Neuronal Antibodies.

Case Rep Neurol 2020 Jan-Apr;12(1):24-26. Epub 2020 Jan 15.

Department of Neurosurgery, Instituto Mexicano de Neurociencias, Huixquilucan, Mexico.

The association between stiff person syndrome and paraneoplastic syndromes has been described, linking intracellular or extracellular antibodies. We describe the case of a 64-year-old woman with stiff person syndrome and positivity for acetylcholine receptor ganglionic neuronal antibodies, which can also be seen in muscular hyperexcitability conditions, as well as other paraneoplastic syndromes. The relevance of this report is the possible direct elevation of this antibody due to a direct immunological cause. Read More

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http://dx.doi.org/10.1159/000505229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7011745PMC
January 2020

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

Case Reports Immunol 2020 8;2020:8454532. Epub 2020 Feb 8.

Department of Neurology, Royal Melbourne Hospital, Parkville, Melbourne, Victoria, Australia.

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. Read More

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http://dx.doi.org/10.1155/2020/8454532DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7031724PMC
February 2020

Stiff person spectrum disorders: An illustrative case series of their phenotypic and antibody diversity.

J Neuroimmunol 2020 Apr 13;341:577192. Epub 2020 Feb 13.

Department of Neurology, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal.

Stiff person spectrum disorders (SPSD) are a broad group of immune-mediated disorders. Clinical presentations include classical stiff person syndrome (SPS), focal SPS, and progressive encephalomyelitis with rigidity and myoclonus (PERM). The most frequently associated antibodies are anti-GAD65, anti-GlyR, anti-amphiphysin, and anti-DPPX. Read More

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http://dx.doi.org/10.1016/j.jneuroim.2020.577192DOI Listing

Autoimmune musicogenic epilepsy associated with anti-glutamic acid decarboxylase antibodies and Stiff-person syndrome.

Clin Case Rep 2020 Jan 12;8(1):61-64. Epub 2019 Dec 12.

Neurology Department University Hospitals Cleveland Medical Center and Case Western Reserve University School of Medicine Cleveland OH USA.

Epilepsy should be suspected in patients with Stiff-person syndrome and new onset paroxysmal episodes. Musicogenic epilepsy may be a manifestation of anti-GAD-Ab spectrum, supporting an autoimmune workup in these patients. Appropriate treatment is not well established, and immunotherapy should be considered in patients with only partial response to antiepileptic drugs. Read More

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http://dx.doi.org/10.1002/ccr3.2538DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6982507PMC
January 2020

Principles of Electrophysiological Assessments for Movement Disorders.

J Mov Disord 2020 Jan 31;13(1):27-38. Epub 2020 Jan 31.

Krembil Research Institute, University Health Network, Toronto, ON, Canada.

Electrophysiological studies can provide objective and quantifiable assessments of movement disorders. They are useful in the diagnosis of hyperkinetic movement disorders, particularly tremors and myoclonus. The most commonly used measures are surface electromyography (sEMG), electroencephalography (EEG) and accelerometry. Read More

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http://dx.doi.org/10.14802/jmd.19064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6987526PMC
January 2020

Low-Dose Naltrexone reduces symptoms in Stiff-Person Syndrome.

Med Hypotheses 2020 Apr 2;137:109546. Epub 2020 Jan 2.

Synovation Medical Group, Pasadena Rehabilitation Institute, 1017 S. Fair Oaks Ave, Pasadena, CA 91105, USA. Electronic address:

Stiff-Person Syndrome (SPS) is a rare neurologic disorder characterized by severe and progressively worsening muscle stiffness and rigidity. SPS can be very painful due to unpredictable muscle spasms which can be triggered by various stimuli, such as noise, touch, or emotional experiences. There is thought to be an autoimmune component to the disorder. Read More

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http://dx.doi.org/10.1016/j.mehy.2019.109546DOI Listing

Retinal pathology occurs in stiff-person syndrome.

Neurology 2020 May 10;94(20):e2126-e2131. Epub 2020 Jan 10.

From the Departments of Neurology (J.L., A.R., S.S., P.A.C., S.D.N.) and Electrical and Computer Engineering (J.P.), Johns Hopkins University School of Medicine, Baltimore, MD.

Objective: To evaluate whether structural and functional changes occur in the afferent visual system of patients with stiff-person syndrome (SPS) and whether these changes correlate with disease burden, given the high concentration of γ-aminobutyric acid receptors, which are generally thought to be involved in SPS pathogenesis, in the retina.

Methods: In this single-center, cross-sectional study, patients with SPS and healthy controls (HCs) underwent optical coherence tomography (OCT), with a subset undergoing high- and low-contrast visual acuity (VA) assessments. Burden of disease was assessed via the number of body regions affected. Read More

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http://dx.doi.org/10.1212/WNL.0000000000008943DOI Listing

Improving Ambulation and Minimizing Disability with Therapeutic Plasma Exchange in a Stiff-person Syndrome Patient with Recurrent Falls.

Cureus 2019 Nov 20;11(11):e6209. Epub 2019 Nov 20.

Neurology, University of Central Florida/Osceola Regional Medical Center, Orlando, USA.

Stiff-person syndrome (SPS) is a rare, autoimmune, neuromuscular disorder that manifests with axial and proximal muscle stiffness, rigidity, and painful muscle spasms, often causing progressive disability due to limited movement. First-line therapies comprise symptomatic management with γ-aminobutyric acid-modulating drugs such as benzodiazepines and baclofen. Patients resistant to these treatments are often given intravenous immunoglobulin (IVIg). Read More

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http://dx.doi.org/10.7759/cureus.6209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925374PMC
November 2019

[Stiff-person syndrome mistaken for conversive disorder: a common error].

Rev Med Chil 2019 Jun;147(6):799-802

Departamento de Ciencias Neurológicas, Facultad de Medicina, Universidad de Chile, Santiago, Chile.

Stiff-person syndrome is characterized by persistent muscle spasms, involving agonist and antagonist muscles simultaneously, starting in the lower limbs and trunk. It tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that later become continuous and usually painful. Minor sensory stimuli, such as noise or light touch, precipitate severe spasms. Read More

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http://dx.doi.org/10.4067/S0034-98872019000600799DOI Listing

A Case of Anti-glutamic Acid Decarboxylase-65 Antibody Positive Stiff Person Syndrome Presenting Initially as Acute Peripheral Vestibulopathy, Leading to Delayed Diagnosis After Multiple Hospitalizations.

Cureus 2019 Nov 6;11(11):e6083. Epub 2019 Nov 6.

Neurology, Apollo Jehangir Hospital, Pune, IND.

Stiff person syndrome (SPS), with a prevalence of one to two per million, is an extremely rare neurological condition that is characterized by axial muscle stiffness and rigidity along with intermittent painful muscle spasms. It is often associated with psychiatric co-morbidities such as anxiety and depression. The pathophysiology, although poorly understood, is widely believed to be autoimmune in nature due to the association of anti-glutamic acid decarboxylase-65 (anti-GAD 65) antibodies with this condition. Read More

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http://dx.doi.org/10.7759/cureus.6083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6894891PMC
November 2019

Molecular mechanisms responsible for Stiff-Person Syndrome.

J Neurol Sci 2020 02 9;409:116624. Epub 2019 Dec 9.

Aga Khan University Hospital, Karachi, Pakistan.

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http://dx.doi.org/10.1016/j.jns.2019.116624DOI Listing
February 2020
2.474 Impact Factor

Stiff limb syndrome with lower limb myoclonus: A case report.

Medicine (Baltimore) 2019 Dec;98(49):e18160

Rationale: stiff limb syndrome (SLS) is a variant of stiff-man syndrome, primarily affecting a specific limb. Its diagnosis has always been challenging due to the lack of a specific confirmation test. We present a rare case of a patient with lower limb myoclonus and rigidity. Read More

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http://dx.doi.org/10.1097/MD.0000000000018160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6919430PMC
December 2019

Variant Stiff Person Syndrome or Multiple Sclerosis?

Prim Care Companion CNS Disord 2019 Nov 27;21(6). Epub 2019 Nov 27.

Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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http://dx.doi.org/10.4088/PCC.19l02459DOI Listing
November 2019

Chronic intestinal pseudo-obstruction with dilated biliary tract as a spectrum of stiff person syndrome in a nondiabetic patient.

J Musculoskelet Neuronal Interact 2019 12;19(4):526-530

Department of Internal Medicine, Caen University Hospital, France; Normandy University, Caen, France.

Stiff person syndrome (SPS) is a rare and challenging neuromuscular junction disorder with typical musculoskeletal manifestations associated with anti-GAD65 antibodies, extra rheumatological manifestations, including neuropsychiatric symptoms and severe dysautonomic troubles. Chronic intestinal pseudo-obstruction (CIPO) is also a rare condition corresponding to a sub-occlusive syndrome, resulting from the functional or structural impairment of smooth neuromuscular tissues of the intestinal tract. In the clinical spectrum of SPS, CIPO has rarely been described and dilated biliary tract has never been described. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944797PMC
December 2019

Medical Cannabis as an Effective Treatment for Refractory Symptoms of Paraneoplastic Stiff Person Syndrome.

J Pain Symptom Manage 2020 02 16;59(2):e1-e3. Epub 2019 Nov 16.

Department of Supportive Care Medicine, Moffitt Cancer Center, Tampa, Florida, USA.

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http://dx.doi.org/10.1016/j.jpainsymman.2019.11.007DOI Listing
February 2020

A stiff person syndrome misdiagnosed as a psychiatric illness.

Curr Rheumatol Rev 2019 Nov 15. Epub 2019 Nov 15.

University of Tunis El Manar, Faculty of Medicine of Tunis, 1007, Tunis, Tunisia Internal medicine department, Internal Forces Security Hospital, Rue Taher Ben Achour, 2070, Tunisia.

A 36-year-old man from presented with an 11-year history of progressive stiffness and painful spasms of his both legs, with recent worsening of his condition overthe last year resulting in a considerable difficulty of standing up and walking. As the patient developed phobic symptoms, he was considered as having a psychiatric illness and treated with antianxiety and antidepressant drugs. As no real improvement was observed, the patient was referred to internal medicine. Read More

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http://dx.doi.org/10.2174/1573397115666191116101240DOI Listing
November 2019

Rituximab improves not only back stiffness but also "stiff eyes" in stiff person syndrome: Implications for immune-mediated treatment.

J Neurol Sci 2020 Jan 2;408:116506. Epub 2019 Nov 2.

Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan; Department of Cell Physiology, Kyorin University School of Medicine, 6-20-2 Shinkawa, Mitaka, Tokyo, Japan.

Objective: Stiff person syndrome (SPS) is usually characterized by truncal muscle rigidity and episodic painful spasms, but it sometimes appears with ocular symptoms called "stiff eyes". We recorded saccade movements in an SPS patient manifesting with "stiff eyes" conditions with slow saccade velocity and evaluated the effect of immunotherapy including rituximab on saccade parameters.

Methods: We repeatedly conducted saccade eye recordings using video-based eye tracking system on a 42-year-old male SPS patient with slow saccade. Read More

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http://dx.doi.org/10.1016/j.jns.2019.116506DOI Listing
January 2020

Utility of Botulinum Injections in Stiff-Person Syndrome.

Case Rep Neurol Med 2019 7;2019:9317916. Epub 2019 Oct 7.

Department of Neurology, Valley Hospital Medical Center, Las Vegas, NV, USA.

Stiff-person syndrome (SPS) is an uncommon neurological disorder characterized by significant rigidity and muscle spasms primarily affecting the truncal and proximal musculature. Furthermore, a wide-based gait with functional impairment is generally seen. High-dose benzodiazepines or baclofen are widely considered the optimal initial therapy; however, major adverse effects often preclude adequate dosing. Read More

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http://dx.doi.org/10.1155/2019/9317916DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6800926PMC
October 2019

Clinical Heterogeneity in Patients with Glutamate Decarboxylase Antibody.

Neuroimmunomodulation 2019 29;26(5):234-238. Epub 2019 Oct 29.

Department of Neurology, the Second Affiliated Hospital of Guangzhou Medical University, Guangzhou, China,

Objective: To explore the diversity and clinical features of anti-glutamate decarboxylase (GAD) antibody-associated neurological diseases.

Methods: Clinical data of a series of 5 patients positive for anti-GAD antibodies were retrospectively analyzed.

Results: All 5 patients were female, with a median age of 41. Read More

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http://dx.doi.org/10.1159/000502695DOI Listing
October 2019

Anti-glutamic acid decarboxylase antibody (GAD) syndromes may have more aggressive disease course in African Americans and early onset of presentation compare to Caucasians group.

eNeurologicalSci 2019 Dec 11;17:100208. Epub 2019 Sep 11.

Department of Neurology, Detroit Medical Center/Wayne State University School of Medicine, Detroit, MI, United States of America.

Anti-Glutamic acid decarboxylase antibodies (GAD) are increasingly diagnosed in the clinic and this antibody related syndromes can manifest commonly as autoimmune encephalitis, Stiff person syndrome and cerebellar ataxia. However, it is unclear if the race has role in age of incidence, presentation and severity of symptoms of anti-GAD associated conditions. In our cohort of 40 patients who were anti-GAD positive, we observed that the age at which the anti-GAD titers turned out to be positive was significantly lower in African Americans (AA) compared to Caucasians (Cau) irrespective of the type of conditions. Read More

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http://dx.doi.org/10.1016/j.ensci.2019.100208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804399PMC
December 2019

A Case of Treatment Resistance and Complications in a Patient with Stiff Person Syndrome and Cerebellar Ataxia.

Tremor Other Hyperkinet Mov (N Y) 2019 1;9. Epub 2019 Oct 1.

Neuroscience and Mental Health Research Institute, Hadyn Ellis Building, Cardiff University, Cardiff, UK.

Background: Antibodies against glutamic acid decarboxylase (GAD) are associated with Stiff Person Syndrome (SPS).

Case Report: A 50-year-old woman presented with symptoms progressed over 9 years, resulting in a cerebellar ataxia and right upper limb tremor. Investigations revealed elevated serum and CSF anti-GAD antibody titres (98. Read More

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http://dx.doi.org/10.7916/tohm.v0.677DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6778423PMC
October 2019
2 Reads

Association of stiff-person syndrome with autoimmune endocrine diseases.

World J Clin Cases 2019 Oct;7(19):2942-2952

Department of Internal Medicine, Division of Endocrinology and Metabolism, Chang Gung Memorial Hospital, Taoyuan City 333, Taiwan.

Background: Stiff-person syndrome (SPS) and its subtype, stiff limb syndrome (SLS), are rare neurological disorders characterized by progressive muscular rigidity and spasms. Glutamic acid decarboxylase (GAD) is the enzyme that catalyzes the production of γ-aminobutyric acid (GABA), a major inhibitory neurotransmitter of the central nervous system. SPS is an autoimmune disease triggered by anti-glutamic acid decarboxylase antibody (anti-GAD Ab). Read More

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http://dx.doi.org/10.12998/wjcc.v7.i19.2942DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6795735PMC
October 2019
5 Reads

Amphiphysin-IgG autoimmune neuropathy: A recognizable clinicopathologic syndrome.

Neurology 2019 11 17;93(20):e1873-e1880. Epub 2019 Oct 17.

From the Department of Neurology (D.D., J.J., H.B., R.V.D.C., A.M., S.J.P., J.K.E., C.J.K.), Laboratory Medicine and Pathology (D.D., J.J., A.M., S.J.P., J.R.M., C.J.K.), Center for MS and Autoimmune Neurology (S.J.P.), Mayo Clinic, Rochester, MN; Beijing Friendship Hospital (H.B.), Capital Medical University, China; and Siriraj Hospital, Mahidol University (J.J.), Bangkok, Thailand.

Objective: To define the clinicopathologic features of amphiphysin-immunoglobulin G (IgG)-mediated neuropathy.

Methods: Patients examined at our institution from January 1, 1995, to September 30, 2018, with amphiphysin-IgG by indirect immunofluorescence and Western blot, were reviewed. Their phenotypes were compared to cases of coexisting collapsin response-mediator protein-5 (CRMP5)-IgG or anti-neuronal nuclear antibody type 1 (ANNA1-IgG) and CRMP5-IgG autoimmunity. Read More

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http://dx.doi.org/10.1212/WNL.0000000000008472DOI Listing
November 2019
1 Read

Glycine receptor autoantibodies disrupt inhibitory neurotransmission.

Brain 2019 11;142(11):3398-3410

UCL Institute of Neurology, University College London, London, UK.

Chloride-permeable glycine receptors have an important role in fast inhibitory neurotransmission in the spinal cord and brainstem. Human immunoglobulin G (IgG) autoantibodies to glycine receptors are found in a substantial proportion of patients with progressive encephalomyelitis with rigidity and myoclonus, and less frequently in other variants of stiff person syndrome. Demonstrating a pathogenic role of glycine receptor autoantibodies would help justify the use of immunomodulatory therapies and provide insight into the mechanisms involved. Read More

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http://dx.doi.org/10.1093/brain/awz297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6821286PMC
November 2019

Autologous haematopoietic stem cell transplantation and other cellular therapy in multiple sclerosis and immune-mediated neurological diseases: updated guidelines and recommendations from the EBMT Autoimmune Diseases Working Party (ADWP) and the Joint Accreditation Committee of EBMT and ISCT (JACIE).

Bone Marrow Transplant 2020 Feb 26;55(2):283-306. Epub 2019 Sep 26.

Department of Haematology, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK.

These updated EBMT guidelines review the clinical evidence, registry activity and mechanisms of action of haematopoietic stem cell transplantation (HSCT) in multiple sclerosis (MS) and other immune-mediated neurological diseases and provide recommendations for patient selection, transplant technique, follow-up and future development. The major focus is on autologous HSCT (aHSCT), used in MS for over two decades and currently the fastest growing indication for this treatment in Europe, with increasing evidence to support its use in highly active relapsing remitting MS failing to respond to disease modifying therapies. aHSCT may have a potential role in the treatment of the progressive forms of MS with a significant inflammatory component and other immune-mediated neurological diseases, including chronic inflammatory demyelinating polyneuropathy, neuromyelitis optica, myasthenia gravis and stiff person syndrome. Read More

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http://dx.doi.org/10.1038/s41409-019-0684-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6995781PMC
February 2020
6 Reads

Stiff Person Syndrome Associated with Compartment Syndrome.

Case Rep Neurol 2019 May-Aug;11(2):217-221. Epub 2019 Jul 16.

Department of Neurology, National Neuroscience Institute, Academia, Singapore, Singapore.

Stiff person syndrome (SPS) is a rare and disabling neurological disorder of autoimmune origin, characterized by progressive stiffness and muscle spasms affecting the axial and limb muscles, most frequently associated with antibodies against glutamic acid decarboxylase. We describe a patient who presented initially with compartment syndrome and was later diagnosed with SPS. This is the first case report of SPS possibly presenting initially with compartment syndrome. Read More

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http://dx.doi.org/10.1159/000501793DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6738138PMC
July 2019
2 Reads

[Stiff person syndrome: still a difficult and overlooked diagnosis].

Ugeskr Laeger 2019 Sep;181(36)

We present a case of stiff person syndrome (SPS) with a description of the diagnostic challenges and a discussion of the implication of novel antibodies. SPS is a rare neurological disorder presenting with severe rigidity, muscle spasms and impaired gait function, and diagnosis is often delayed due to low awareness. SPS is classically associated with antibodies directed against glutamic acid decarboxylase or amphiphysin. Read More

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September 2019

Anti-glutamate Dehydrogenase Antibody Positive Cerebellar Ataxia and Stiff Person Syndrome Responding to Dual Treatment with Steroids and Intravenous Immunoglobulin: A Case Presentation and Literature Review.

Cureus 2019 Jun 6;11(6):e4851. Epub 2019 Jun 6.

Neurology, Cooper Neurological Institute, Cooper University Hospital, Camden, USA.

Anti-glutamic acid decarboxylase (anti-GAD) antibody syndrome (aGAS) has various presentations including cerebellar ataxia (CA) and stiff person syndrome (SPS). This is a treatable cause of CA and SPS. We present a case of a 49-year-old man who developed blurred vision, slurred speech, difficulty walking, unsteady gait, and clumsiness which had progressed over four months. Read More

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http://dx.doi.org/10.7759/cureus.4851DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6684109PMC
June 2019
2 Reads

[Stiff-person syndrome: a clinical observation].

Zh Nevrol Psikhiatr Im S S Korsakova 2019 ;119(6):96-100

Regional Clinical Hospital, Krasnoyarsk, Russia.

Stiff-person syndrome (SPS) is a rare chronic neurological disease characterized by progressing muscle rigidity and painful muscle spasms. The signs of SPS are pain and stiffness in spinal, abdominal and cervical muscles, increased muscle tonus in extensor muscles of extremities, constant stiffness of paravertebral and abdominal muscles and muscle spasms. A clinical case of a SPS patient T. Read More

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http://dx.doi.org/10.17116/jnevro201911906196DOI Listing
October 2019
2 Reads

Dyspnea in Patients with Stiff-Person Syndrome.

Am J Med Sci 2019 10 18;358(4):268-272. Epub 2019 Jul 18.

Neurology Department, Sidney Kimmel Medical College, Philadelphia, Pennsylvania.

Background: Stiff-person syndrome (SPS) is a rare autoimmune disorder that leads to progressively worsening stiffness and spasm of thoracic and proximal-limb musculature. Dyspnea has been reported but not analyzed in patients with SPS.

Materials And Methods: For this prospective study, 17 patients were recruited from a university-based neurology clinic. Read More

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http://dx.doi.org/10.1016/j.amjms.2019.07.007DOI Listing
October 2019
5 Reads

SPS: Understanding the complexity.

J Neurol Sci 2019 Sep 17;404:137-149. Epub 2019 Jul 17.

Department of Neurology, Louisiana State University School of medicine, New Orleans, USA.

Introduction: Stiff-person syndrome (SPS), first described in 1956 by Moersch and Woltman, is a progressive autoimmune disorder with core features of chronic fluctuating progressive truncal and limb rigidity and painful muscle spasms leading to gait difficulties, falls and an appearance that resembles tin soldiers. The syndrome is a rare, highly disabling disorder of the central nervous and frequently results in significant disability. Understanding of the etiology, clinical spectrum, diagnostic workup and therapeutic modalities for this painful and disabling disorder has vastly evolved over the past few years with more confidence in classifying and treating the patients. Read More

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http://dx.doi.org/10.1016/j.jns.2019.06.021DOI Listing
September 2019
2 Reads

Novel clinical features of glycine receptor antibody syndrome: A series of 17 cases.

Neurol Neuroimmunol Neuroinflamm 2019 09 1;6(5):e592. Epub 2019 Jul 1.

Department of Neurology (A.L.P., M.K., M.P.W., J.L.B., M.A.L., L.S., T.L.S.), University of Colorado, Aurora; Department of Neurology (A.L.P., J.E.A.W., M.M.P.S., S.L.C.), University of Utah; Department of Ophthalmology (J.E.A.W.), Moran Eye Center, University of Utah, Salt Lake City; Department of Ophthalmology and Program in Neuroscience (J.L.B.), University of Colorado; Department of Neurology (T.L.S.), Children's Hospital Colorado, Aurora; and Department of Veterans Affairs (M.M.P.S., S.L.C.), George E. Wahlen Veterans Affairs Medical Center, Salt Lake City, UT.

Objective: To describe novel clinical features of GlyRα1-IgG-positive patients.

Methods: Patients with a positive serum GlyRα1-IgG were identified during a 2-year period from July 2016 to December 2018 at 2 academic centers and followed prospectively. All patients in this series were evaluated in the Neuroimmunology and Autoimmune Neurology clinics at the University of Utah or the University of Colorado. Read More

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http://dx.doi.org/10.1212/NXI.0000000000000592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6624144PMC
September 2019
3 Reads

Neurological Disorders Associated with Glutamic Acid Decarboxylase Antibodies.

Cureus 2019 May 23;11(5):e4738. Epub 2019 May 23.

Neurology, Marcus Neuroscience Institute at Boca Raton Regional Hospital, Boca Raton, USA.

Anti-glutamic acid decarboxylase (GAD) antibodies have been discovered in a variety of neurological syndromes with unique presentations. These syndromes include limbic encephalitis (LE), stiff person syndrome (SPS), opsoclonus-myoclonus-ataxia syndrome, cerebellar ataxia, status epilepticus, and palatal myoclonus among others. We present two patients who presented with Guillain-Barré (GBS) and myasthenia gravis (MG) like syndromes, who were found to have anti-GAD antibodies. Read More

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http://dx.doi.org/10.7759/cureus.4738DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6649892PMC
May 2019
5 Reads

Femur Neck Fracture in a Patient with Stiff Person Syndrome: A Case Report.

JBJS Case Connect 2019 Jul-Sep;9(3):e0049

Section of Neurology, Department of Medicine, Aga Khan University Hospital, Karachi, Pakistan.

Case: A 57-year-old man with a known case of stiff person syndrome (SPS) presented with an insidious-onset 3-month history of right groin pain and inability to bear weight on the right lower extremity. Radiographs demonstrated a displaced right neck of femur fracture. Pelvic magnetic resonance imaging was negative for any infective or neoplastic pathology. Read More

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http://dx.doi.org/10.2106/JBJS.CC.18.00049DOI Listing
July 2019
3 Reads

[Recent progress in autoimmune encephalitis and its related disorders].

Authors:
Takahiro Iizuka

Rinsho Shinkeigaku 2019 Aug 23;59(8):491-501. Epub 2019 Jul 23.

Department of Neurology, Kitasato University School of Medicine.

After the discovery of a series of autoantibodies against neuronal cell surface antigens (NSAs) of the CNS in the past 10 years, the concept of encephalitis has changed dramatically. Accordingly, a practical, syndrome-based diagnostic approach to autoimmune encephalitis was proposed in 2016. These autoantibodies have also been identified in a subset of overlapping encephalitis and demyelinating syndrome, epilepsy, first episode psychosis, movement disorders, post-herpes simplex encephalitis, progressive dementia, postpartum psychosis, stiff-person spectrum disorders, or non-REM/REM sleep behavior disorder. Read More

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http://dx.doi.org/10.5692/clinicalneurol.cn-001314DOI Listing
August 2019
3 Reads

Peripheral nerve hyperexcitability.

Authors:
Bashar Katirji

Handb Clin Neurol 2019 ;161:281-290

Neuromuscular Center and EMG Laboratory, Neurological Institute, University Hospitals Cleveland Medical Center, Case Western Reserve University, Cleveland, OH, United States. Electronic address:

Neuromyotonic and myokymic discharges are abnormal electrical muscular discharges caused by ectopic discharges from motor axons and represent the hallmarks of peripheral nerve hyperexcitability. Neuromyotonic discharges are specific for peripheral nerve hyperexcitability syndromes, whereas myokymic discharges may occur either focally or in a more generalized fashion in many other peripheral nerve disorders. Isaacs syndrome and Morvan syndrome are rare acquired peripheral nerve hyperexcitability disorders that share common clinical features and are often associated with elevated voltage-gated potassium channel-complex antibodies. Read More

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http://dx.doi.org/10.1016/B978-0-444-64142-7.00054-0DOI Listing
January 2020
20 Reads