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Neurol Sci 2021 May 11. Epub 2021 May 11.

Neurology Unit, Department of Neurosciences, Biomedicine, and Movement Sciences, University of Verona, Policlinico GB Rossi, P.le LA Scuro 10, 37134, Verona, Italy.

Introduction: Neurological disorders are considered rare complications of immune-checkpoint inhibitor.

Case Description: We report a 63-year-old man with recurrence of melanoma who presented epilepsy, limbic encephalitis, cerebellar ataxia, and stiff person syndrome soon after treatment with nivolumab, an immune-checkpoint inhibitor. On autoimmune screening, serum and CSF GAD65 were detected. Read More

Nutrients 2021 Apr 20;13(4). Epub 2021 Apr 20.

Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Trust, Royal Hallamshire Hospital, Glossop Road, Sheffield S10 2JF, UK.

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. Read More

Neurol Sci 2021 Apr 29. Epub 2021 Apr 29.

Department of Neurology, Hospital Universitario La Paz, Paseo de la Castellana, 261, 28046, Madrid, Spain.

Objectives: To explore different neurological manifestations with suspicion of being associated to serum glutamate decarboxylase antibodies (GAD-Abs) in order to better characterize anti-GAD neurological syndromes.

Methods: Observational retrospective study including all patients for whom GAD65-Abs titers in serum were requested by the Neurology Department at La Paz University Hospital between 2015 and 2019. GAD-Abs were measured by ELISA. Read More

Front Neurol 2021 12;12:641024. Epub 2021 Apr 12.

Department of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.

Antibodies against glutamic acid decarboxylase (GAD) are associated with various neurologic conditions described in patients, including stiff person syndrome, cerebellar ataxia, refractory epilepsy, and limbic and extralimbic encephalitis. There have been some case reports and investigations regarding anti-GAD65 antibody-associated encephalitis in adult populations, but pediatric cases are rare. We retrospectively analyzed the clinical data of three anti-GAD65 antibody-positive patients to explore the diversity and clinical features of anti-GAD65 antibody-associated pediatric autoimmune encephalitis. Read More

J Rehabil Med Clin Commun 2021 3;4:1000052. Epub 2021 Mar 3.

MossRehab, Elkins Park, PA, USA.

Background: Intrathecal baclofen is considered an adjuvant therapy for patients with intractable spasms due to stiff-person syndrome. There is increasing evidence to support the use of intrathecal baclofen in the management of symptomatic stiffperson syndrome, with improvement in function.

Case Report: A 38-year-old woman with stiff- person syndrome initially presented to inpatient rehabilitation for intractable muscle spasms. Read More

Ther Adv Neurol Disord 2021 30;14:17562864211003486. Epub 2021 Mar 30.

Department of Neurology, Thomas Jefferson University, 900 Walnut Street, Philadelphia, PA 19107, USA; Neuroimmunology Unit, National and Kapodistrian University of Athens, Athens, Greece.

Antibodies against glutamic acid decarboxylase (GAD), originally linked to stiff person syndrome (SPS), now denote the "" () that also include autoimmune epilepsy, limbic encephalitis, cerebellar ataxia and nystagmus with overlapping symptomatology highlighting autoimmune neuronal excitability disorders. The reasons for the clinical heterogeneity among GAD-antibody associated syndromes remain still unsettled, implicating variable susceptibility of GABAergic neurons to anti-GAD or other still unidentified autoantibodies. Although anti-GAD antibody titers do not correlate with clinical severity, very high serum titers, often associated with intrathecal synthesis of anti-GAD-specific IgG, point to effects of GAD or related autoantibodies within the central nervous system. Read More

Cureus 2021 Mar 3;13(3):e13677. Epub 2021 Mar 3.

Hematology/Oncology, Magee Women's Hospital, University of Pittsburgh Medical Center, Pittsburgh, USA.

Paraneoplastic neurologic syndromes (PNS) are a group of disorders characterized by an autoimmune response against the nervous system due to cross-reactivity between malignant and normal neural tissue. The most commonly associated malignancies include small cell lung cancer, ovarian cancer, breast cancer, and lymphoma. Multiple PNS have been reported including paraneoplastic cerebellar degeneration, retinopathy, sensorimotor peripheral neuropathy, encephalopathy, opsoclonus-myoclonus syndrome, and stiff-person syndrome. Read More

Open Med (Wars) 2021 30;16(1):526-531. Epub 2021 Mar 30.

Department of Anaesthesiology and Intensive Care, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Medyków 14, Katowice, 40-752, Poland.

The stiff person syndrome (SPS) is an extremely rare neurological disorder with primarily immune-mediated etiology. The cardinal symptoms are progressive, fluctuating axial/proximal limb muscle stiffness and spasms. The diagnosis is based on the clinical picture, electromyography examination and detection of antibodies to glutamic acid decarboxylase (anti-GAD). Read More

J Med Case Rep 2021 Mar 26;15(1):158. Epub 2021 Mar 26.

Medical Oncology Department, Alan Walker Cancer Centre, Royal Darwin Hospital, Northern Territory, Australia.

Background: Paraneoplastic neurological syndrome is an immune-mediated phenomenon where antibodies from tumor cells are produced against neuronal proteins. Amphiphysin antibody is an onconeural antibody linked to the diagnosis of breast cancer and small-cell lung cancer. It is uncommon and typically associated with stiff-person syndrome, of which 90% of patients are eventually diagnosed with breast cancer. Read More

Medicine (Baltimore) 2021 Mar;100(12):e25260

Johns Hopkins Hospital, Stiff Person Syndrome Center, Baltimore, MD, USA.

Introduction: Intravenous immunoglobulin (IVIG) has been shown to be effective for the treatment of stiff person syndrome (SPS). However, some patients might not tolerate it. We report the tolerability profile of subcutaneous immunoglobulin (SCIg) in patients with SPS who did not tolerate IVIG. Read More

Case Rep Neurol Med 2021 31;2021:6698046. Epub 2021 Jan 31.

Department of Internal Medicine, Ascension Genesys Hospital, Grand Blanc, Michigan, USA.

Stiff-person syndrome (SPS) is a rare disorder seen in approximately one in one million people. Although it is rare, the symptoms and findings of a typical case should paint a clear clinical picture for those who are familiar with the disease. The primary findings in SPS include progressive axial muscle rigidity as well as muscle spasms. Read More

J Neurol Neurosurg Psychiatry 2021 Feb 9. Epub 2021 Feb 9.

Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA

Objective: To determine clinical manifestations, immunotherapy responsiveness and outcomes of glutamic acid decarboxylase-65 (GAD65) neurological autoimmunity.

Methods: We identified 323 Mayo Clinic patients with high-titre (>20 nmol/L in serum) GAD65 antibodies out of 380 514 submitted anti-GAD65 samples (2003-2018). Patients classified as having GAD65 neurological autoimmunity after chart review were analysed to determine disease manifestations, immunotherapy responsiveness and predictors of poor outcome (modified Rankin score >2). Read More

Medicine (Baltimore) 2021 Jan;100(3):e24312

Department of Neurology and Neuroscience Center, First Hospital of Jilin University, Changchun, Jilin, China.

Rationale: Stiff-person syndrome (SPS) is a rare neurological immune disorder characterized by progressive axial and proximal limb muscle rigidity, stiffness, and painful muscle spasms. Amphiphysin antibodies are positive in approximately 5% of SPS patients. To date, there have been no relevant reports on involuntary movement in cases of SPS with amphiphysin antibodies. Read More

Acta Neurol Belg 2021 Feb 5. Epub 2021 Feb 5.

Neurology Department, AUBMC, American University of Beirut Medical Center, Riad El Solh, 1107 2020, Beirut, 11-0236, Lebanon.

J Neurol 2021 Feb 5. Epub 2021 Feb 5.

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

The common co-occurrence of autoimmune systemic diseases in patients with neurological disorders and antibodies against glutamic acid decarboxylase 65 (GAD65) suggests a shared genetic predisposition to these disorders. However, the nature and frequency of familial aggregation of autoimmune diseases, which might also support this hypothesis, have been poorly investigated. Herein, an exploratory, interview-based study was conducted with the aim of describing the autoimmune diseases displayed by the relatives of GAD65 neurological patients, their frequency, kinship, and potential patterns of inheritance. Read More

JBJS Case Connect 2020 12 10;10(4):e20.00378. Epub 2020 Dec 10.

Department of Neurosurgery, Cedars-Sinai Medical Center, Los Angeles, California.

Case: Stiff-person syndrome (SPS) presents with progressive muscle rigidity, postural instability, and periodic debilitating spasms. Reports of axial hyperextension exist, but kyphotic deformities have not been described. We surgically treated a patient with debilitating SPS and severe cervicothoracic hyperkyphosis with posterior spinal fusion and instrumentation. Read More

Cureus 2020 Dec 9;12(12):e11995. Epub 2020 Dec 9.

Medicine, Carlos Andrade Marín Hospital, Quito, ECU.

Stiff-person syndrome (SPS) is a rare and disabling central nervous system disorder with no satisfactory treatment. Muscle rigidity, sporadic muscle spasms, and chronic muscle pain characterize SPS. SPS is strongly correlated with autoimmune diseases, and it is usual to find high titers of antibodies against acid decarboxylase (GAD65). Read More

BMJ Case Rep 2021 Jan 11;14(1). Epub 2021 Jan 11.

Acute Pain Service, Northern Hospital, Epping, Victoria, Australia.

Stiff-Person syndrome (SPS) is a rare autoimmune neurological disorder characterised by episodic painful muscle rigidity and violent spasms. A significant trigger for the painful spasms experienced by patients is pain itself, making optimal pain management and avoidance a necessity. While first-line and second-line therapies for spasm prevention and termination are known, there is a paucity of evidence to guide pain management. Read More

Chin Med Sci J 2020 Dec;35(4):387-390

Department of Neurology, Huashan Hospital, Fudan University, Shanghai 200040, China.

A 34-year-old female with stiff-person syndrome (SPS) is reported in this paper. She experienced short-term memory impairment and was diagnosed with anti-glutamic acid decarboxylase (GAD) autoimmune encephalitis (AE) at the local hospital. However, after the treatment with intravenous immunoglobulin and high-dose glucocorticoids, her symptoms unchanged. Read More

J Neurol 2021 Feb 24;268(2):709-711. Epub 2020 Dec 24.

Department of Haematology, Oncology and Stem Cell Transplantation, Faculty of Medicine, University Medical Centre Freiburg, University of Freiburg, Freiburg, Germany.

Medicine (Baltimore) 2020 Dec;99(50):e23607

Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, Guangzhou, China.

Rationale: Stiff-person syndrome (SPS) is an uncommon neurological disorder with autoimmune features. Here, we report a 60-year-old man with SPS associated with critical illness polyneuropathy (CIP). CIP was diagnosed during an episode of acute respiratory failure secondary to muscular rigidity and spasms, which has rarely been reported in this condition. Read More

Neurology 2021 02 14;96(6):239-240. Epub 2020 Dec 14.

From the Department of Neurology, Thomas Jefferson University, Philadelphia, PA; and the Neuroimmunology Unit, National and Kapodistrian University of Athens Medical School, Greece.

Neurology 2021 02 14;96(6):e817-e830. Epub 2020 Dec 14.

From the Division of Immunotherapy (R.K.B., X.H., K.Q., I.A.), Department of Medicine, Department of Neurology (R.B., T.S.), Department of Preventive Medicine (I.H.), and Department of Pathology and Cell and Developmental Biology (T.S.), Northwestern University, Chicago, IL; and Department of Neurology (J.R.), University of Utah, Salt Lake City.

Objective: To test the hypothesis that autologous nonmyeloablative hematopoietic stem cell transplantation (HSCT) is safe and shows efficacy in the treatment of stiff-person spectrum disorder (SPSD).

Methods: Twenty-three participants were treated in a prospective open-label cohort study of safety and efficacy. After stem cell mobilization with cyclophosphamide (2 g/m) and filgrastim (5-10 µg/kg/d), participants were treated with cyclophosphamide (200 mg/kg) divided as 50 mg/kg IV on day -5 to day -2; rabbit anti-thymocyte globulin (thymoglobulin) given intravenously at 0. Read More

Front Neurol 2020 10;11:529985. Epub 2020 Nov 10.

Department of Family Medicine, Carilion Clinic, Roanoke, VA, United States.

McArdle disease is a rare autosomal recessive disorder of muscle glycogen metabolism that presents with pain and fatigue during exercise. Stiff-Person Syndrome is an autoimmune-related neurologic process characterized by fluctuating muscle rigidity and spasm. Reported is a 41-year-old male who presented to the emergency department due to sudden-onset weakness and chest pain while moving his refrigerator at home. Read More

J Clin Neuromuscul Dis 2020 Dec;22(2):84-89

Neuromuscular Center, Department of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, OH.

A literature review was performed on the use of electrodiagnostic (EDX) tests including nerve conduction study, electromyography, exteroceptive reflex, blink reflex, and late response in the evaluation of patients with stiff person syndrome (SPS). A web survey was conducted to report the extent of EDX testing usage in the evaluation of SPS among laboratories accredited by the American Academy of Neuromuscular and Electrodiagnostic Medicine. Coactivation of selected agonist and antagonist muscles was performed in 5 healthy subjects to determine its specificity for SPS. Read More

Pediatr Neurol 2021 01 23;114:11-15. Epub 2020 Sep 23.

Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland. Electronic address:

Background: We aimed to characterize the spectrum of clinical features and examination findings in pediatric-onset stiff person syndrome.

Methods: Medical records were reviewed for all patients treated for stiff person syndrome with symptom onset in childhood at a tertiary medical center between March 2001 and February 2019.

Results: Of the 15 individuals who met inclusion criteria, 11 (73%) were female and 13 (87%) were Caucasian. Read More

J Acad Consult Liaison Psychiatry 2021 Jan-Feb;62(1):3-13. Epub 2020 Sep 15.

Department of Psychiatry, Dartmouth-Hitchcock Medical Center, Lebanon, NH; Department of Psychiatry, Dartmouth Geisel School of Medicine, Hanover, NH; Department of Psychiatry, Keck Hospital of University of Southern California, Los Angeles, CA.

Background: Stiff-person syndrome (SPS) is a rare autoimmune neurologic disease characterized by painful rigidity and muscle spasms. Patients with SPS may present with psychiatric symptoms, and little is known about the presence of psychiatric comorbidities.

Objective: The objective of this study was to provide an overview of the association between SPS and psychiatric illnesses. Read More

Case Rep Neurol 2020 Sep-Dec;12(3):339-347. Epub 2020 Oct 2.

Department of Neuroscience, "Iuliu Hatieganu" University of Medicine and Pharmacy, Cluj-Napoca, Romania.

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. Read More

J Neurosci Rural Pract 2020 Oct 20;11(4):651-653. Epub 2020 Aug 20.

Department of Neurology, King Abdulaziz University, Jeddah, Saudi Arabia.

Stiff-person syndrome (SPS) is a rare neurological disorder that causes muscle rigidity and stiffness of the trunk and proximal limb muscles, leading to movement difficulties and impaired function. Due to the rarity of the disease, studies on the benefit of rehabilitation for this disorder are quite limited. A 46-year-old female patient diagnosed with SPS complained of imbalance and movement difficulty. Read More