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Front Neurol 2022 25;13:866183. Epub 2022 Apr 25.

Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare and disabling syndrome characterized by painful spasms, myoclonic jerks, hyperekplexia, brainstem signs, and dysautonomia, which is considered to be a severe form of stiff person spectrum disorder (SPSD) and is mostly associated with glycine receptor antibodies. The PERM has an acute or subacute course, with complex and varied initial symptoms mainly manifest as stiffness and pain. The authors present the case of a male patient admitted for intractable stiffness and paroxysmal myoclonus of the lower extremities preceded by a 5-day history of facial weakness. Read More

Case Rep Neurol 2022 Jan-Apr;14(1):157-161. Epub 2022 Mar 18.

Department of Endocrinology, Hospital Putrajaya, Putrajaya, Malaysia.

Pituitary adenoma can manifest as pituitary hypofunction, which can cause symptoms of panhypopituitarism. Commonly, symptoms of hormonal deficiencies such as lethargy, weight change, cold intolerance, and sexual dysfunction are reported. Optic chiasmal compression leads to visual field changes and the discovery of the pituitary lesion. Read More

Schmerz 2022 Apr 29. Epub 2022 Apr 29.

Institut für Digitale Allgemeinmedizin, Uniklinik RWTH Aachen, Aachen, Deutschland.

Myalgia describes pain in the skeletal muscles. According to the current German clinical guidelines from 2020 (AWMF register number: 030/051), the initial diagnostic assessment consists of the anamnesis, clinical examination, electrophysiological examination and standard laboratory tests. Additional special examinations, such as molecular genetic investigations, special laboratory tests, medical imaging and muscle biopsy are only needed in certain cases. Read More

J Neuroimmunol 2022 Jun 16;367:577865. Epub 2022 Apr 16.

Departments of Pediatrics, Neurology and Neurosurgery, Warren Alpert Medical School of Brown University, Providence, RI, United States of America; Division of Pediatric Neurology and the Children's Neurodevelopment Center (CNDC), Hasbro Children's Hospital, Providence, RI, United States of America.

We report an early childhood onset Stiff Limb Syndrome (SLS) in association with unusual polyautoimmunity of GAD-65, anti-islet cell, and Thyroid Peroxidase (TPO) autoantibodies, who has achieved a nearly complete neurological recovery following combined immunotherapy, symptomatic and physical therapy. The patient had normal MRIs of the brain and spinal cord and a negative paraneoplastic work-up. Subsequently, she developed hypothyroidism requiring levothyroxine supplementation. Read More

Int J Mol Sci 2022 Apr 17;23(8). Epub 2022 Apr 17.

Department of Neurology, Rigshospitalet Glostrup, Valdemar Hansens vej 13, 2600 Glostrup, Denmark.

Two isoforms of the glutamate decarboxylase (GAD) enzyme exist, GAD65 and GAD67, which are associated with type 1 diabetes (T1D) and stiff-person syndrome (SPS), respectively. Interestingly, it has been reported that T1D patients seldom develop SPS, whereas patients with SPS occasionally develop T1D. In addition, coxsackievirus B4 (CVB4) has previously been proposed to be involved in the onset of T1D through molecular mimicry. Read More

Eur J Med Res 2022 Apr 6;27(1):53. Epub 2022 Apr 6.

Department of Neurology and Neuroscience Center, First Hospital of Jilin University, Changchun, Jilin, People's Republic of China.

Background: Antibodies against the 65-kDa isoform of glutamic acid decarboxylase (GAD65) are biomarkers of autoimmune disorders and are more common in non-neurological autoimmune diseases than in neurological disorders. As for the central nervous system (CNS), it is well known that GAD65 is primarily associated with stiff-person syndrome, cerebellar ataxia, epilepsy, and paraneoplastic neurological syndrome. However, GAD65 antibodies have not been reported in patients with brain tumors. Read More

Brain 2022 Mar 28. Epub 2022 Mar 28.

Department of Neurology, Medical Faculty, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany.

Autoimmune neurological syndromes (AINS) with autoantibodies against the 65  kDa isoform of the glutamic acid decarboxylase (GAD65) present with limbic encephalitis including temporal lobe seizures or epilepsy, cerebellitis with ataxia, and stiff-person-syndrome, or overlap forms. Anti-GAD65 autoantibodies are also detected in autoimmune diabetes mellitus, which has a strong genetic susceptibility conferred by human leukocyte antigen (HLA) and non-HLA genomic regions. We investigated the genetic predisposition in patients with anti-GAD65 AINS. Read More

Am J Transl Res 2022 15;14(2):1131-1135. Epub 2022 Feb 15.

Department of Neurology, Huadong Hospital Affiliated to Fudan University No. 221, West Yan An Road, Shanghai, China.

Background: Stiff-person syndrome (SPS) manifests by progressive rigidity along with muscle spasms that affect the axial and limb muscles. First discovered in 1956, significant progress has been made in its clinical characterization, comprehension of pathogenesis, as well as effective treatment therapy.

Case Presentation: A 67-year old female patient presented with a 2-year history of progressive stiffness along with painful spasms in both legs, with her condition worsening over the previous year making it considerably difficult for her to stand and walk. Read More

Cytotherapy 2022 Feb 19. Epub 2022 Feb 19.

Hematology Department, Internal Medicine Division, Dr. José Eleuterio González University Hospital and School of Medicine, Universidad Autónoma de Nuevo León, Monterrey, México.

Background: Chronic inflammatory demyelinating polyneuropathy (CIDP), stiff-person syndrome (SPS), neuromyelitis optica spectrum disorders (NMOSD) and severe refractory myasthenia gravis (MG) are immune-mediated neurological diseases that severely affect patients' functionality and quality of life, with a considerable percentage undergoing relapse or not responding to conventional treatment options. Autologous hematopoietic stem cell transplantation (auto-HSCT) has emerged as a potential second-line treatment alternative.

Methods: We performed a literature review in PubMed/Medline, EMBASE, Web of Science and Cochrane Library from inception to September 2021 of reported cases and studies of CIDP, SPS, NMOSD and MG that underwent HSCT as a treatment option. Read More

J Clin Psychiatry 2022 02 15;83(2). Epub 2022 Feb 15.

Department of Neurology, University of Missouri, Columbia, Missouri.

(AE) refers to a group of neuropsychiatric conditions associated with specific circulating autoantibodies directed against synaptic receptors, neuronal cell surface proteins, and intracellular targets. Increased recognition of these disorders is of value, as affected patients prominently display cognitive impairment, behavioral disturbances, and seizures requiring multidisciplinary teams, with early recognition often impacting prognosis.

This case series is based on a retrospective record review of adult patients diagnosed with AE between January 1, 2010- January 1, 2020. Read More

Front Psychiatry 2021 28;12:778684. Epub 2022 Jan 28.

Department of Neurology, University Medical Center of Göttingen, Göttingen, Germany.

Background: Glycine receptor antibody-associated neuropsychiatric disease is currently known to be dominated by the phenotypes stiff-person syndrome and progressive encephalomyelitis entailing rigidity and myoclonus. In our case series we aim to depict the less-often reported feature of cognitive impairment associated with glycine receptor antibodies.

Methods: We investigated five patients with cognitive impairment varying from mild cognitive impairment to dementia associated with serum glycine receptor antibodies. Read More

BMJ Case Rep 2022 Feb 7;15(2). Epub 2022 Feb 7.

Mayo Clinic Hospital, Jacksonville, Florida, USA.

Stiff-person syndrome (SPS) is a rare, autoimmune, neurological disorder that often occurs concurrently with other autoimmune disorders, such as type 1 diabetes mellitus, pernicious anaemia, vitiligo and Hashimoto's thyroiditis. It also can manifest as a paraneoplastic syndrome. Although SPS classically presents with truncal and appendicular stiffness and lumbar hyperlordosis, it can present focally in a single limb (termed ). Read More

J Endocr Soc 2022 Feb 14;6(2):bvab188. Epub 2022 Jan 14.

Department of Medicine, Division of Endocrinology, Diabetes and Metabolism and Center for Diabetes and Endocrine Research (CeDER), College of Medicine and Life Sciences (formerly Medical College of Ohio), University of Toledo, Toledo, OH, USA.

Glutamic acid decarboxylase 65kD autoantibody (GAD65Ab) is frequently detected in patients with refractory epilepsy and stiff person syndrome. In contrast to T1D, the pathological role of GAD65Ab in neurological disorders is still debatable. As a result, the implementation of possible immunotherapy is usually delayed. Read More

Front Neurol 2021 20;12:756668. Epub 2022 Jan 20.

Functional and Epilepsy Surgery Center, Department of Neurosurgery, St. Ivan Rilski University Hospital, Sofia, Bulgaria.

Glutamic acid decarboxylase (GAD) antibodies are associated with disabling conditions such as stiff person syndrome, temporal lobe epilepsy (TLE), limbic encephalitis, cerebellar ataxia (CA), and ocular movement disorders, which are usually chronic and difficult to treat. GAD-related TLE has poor response to anti-seizure medications and immune therapies, and epilepsy surgery is rarely successful. We report on a 47-year-old female with history of migraine, autoimmune thyroid disease, ankylosing spondylitis, and drug-resistant TLE. Read More

Parkinsonism Relat Disord 2022 02 26;95:138-142. Epub 2022 Jan 26.

Chulalongkorn Centre of Excellence for Parkinson's Disease & Related Disorders, Department of Medicine, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, Thailand; The Academy of Science, The Royal Society of Thailand, Bangkok, Thailand.

Latah is a culture-specific syndrome characterized by exaggerated startle response, echolalia, palilalia, echopraxia, coprolalia, forced obedience and involuntary vocalization in response to startle. Latah is stimulus-induced and is associated with behavior and psychiatric features. The aim of this review is to provide a comprehensive description on latah from a regional perspective based on previous literature and clinical experiences and highlight the clinical characteristics of latah from a movement disorders perspective. Read More

Neurotherapeutics 2022 Jan 27. Epub 2022 Jan 27.

Department of Neurology, Thomas Jefferson University, Philadelphia, PA, USA.

Although antibodies against Glutamic Acid Decarboxylase (GAD) were originally associated with Stiff Person Syndrome (SPS), they now denote the "GAD antibody-spectrum disorders (GAD-SD)" that include Cerebellar Ataxia, Autoimmune Epilepsy, Limbic Encephalitis, PERM and eye movement disorder. In spite of the unique clinical phenotype that each of these disorders has, there is significant overlapping symptomatology characterized by autoimmune neuronal excitability. In addition to GAD, three other autoantibodies, against glycine receptors, amphiphysin and gephyrin, are less frequently or rarely associated with SPS-SD. Read More

Case Rep Rheumatol 2022 13;2022:7741545. Epub 2022 Jan 13.

Division of Rheumatology, One Brooklyn Health, Brookdale University Hospital, Brooklyn, NY, USA.

Stiff person syndrome (SPS) is a rare autoimmune disease caused by lack of inhibition to excitatory neurotransmitters in the central nervous system (CNS) leading to inappropriate motor unit firing. The pathophysiology is incompletely understood; however, high titers of antiglutamic acid decarboxylase antibody (anti-GAD Ab) are strongly associated with this disease. We present a 50-year-old woman with a history of ongoing gait and balance issues for 5 years with multiple negative workups. Read More

BMJ Case Rep 2021 Dec 14;14(12). Epub 2021 Dec 14.

Division of Community Medicine and Career Development, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan.

Neuropediatrics 2022 Apr 14;53(2):136-139. Epub 2021 Dec 14.

Neuropaediatric Unit, Hôpital des Enfants, CHU Toulouse [Children's Hospital, Toulouse University Hospital], Toulouse, France.

Antiglutamic acid decarboxylase (GAD65) encephalitis is rare and few pediatric cases have been reported, with variable clinical presentations. A 14-year-old female adolescent was managed in our department. She had been treated for several months for drug-resistant temporal lobe epilepsy and gradually presented major anterograde amnesia with confusion. Read More

Front Neurol 2021 28;12:735895. Epub 2021 Oct 28.

Department of Neurology, University of Texas Medical Branch, Galveston, TX, United States.

Paraneoplastic stiff-limb syndrome (SLS) is a rare manifestation of underlying malignancy and could have distinctive features different from the classic stiff-person syndrome (SPS). We present a case of anti-amphiphysin antibody (Ab)-associated paraneoplastic SLS, in an 83-year-old woman with invasive ductal carcinoma of the breast. She presented with stiffness, painful spasms of the distal legs, and asymmetrical fixed posturing of the foot. Read More

Neurotherapeutics 2021 10 11;18(4):2397-2418. Epub 2021 Nov 11.

Department of Neurology, Thomas Jefferson University, Philadelphia, PA, USA.

In the last 25 years, intravenous immunoglobulin (IVIg) has had a major impact in the successful treatment of previously untreatable or poorly controlled autoimmune neurological disorders. Derived from thousands of healthy donors, IVIg contains IgG1 isotypes of idiotypic antibodies that have the potential to bind pathogenic autoantibodies or cross-react with various antigenic peptides, including proteins conserved among the "common cold"-pre-pandemic coronaviruses; as a result, after IVIg infusions, some of the patients' sera may transiently become positive for various neuronal antibodies, even for anti-SARS-CoV-2, necessitating caution in separating antibodies derived from the infused IVIg or acquired humoral immunity. IVIg exerts multiple effects on the immunoregulatory network by variably affecting autoantibodies, complement activation, FcRn saturation, FcγRIIb receptors, cytokines, and inflammatory mediators. Read More

Pan Afr Med J 2021 9;40:27. Epub 2021 Sep 9.

Service de Médecine Interne, Hôpital Arrazi Centre Hospitalier Universitaire Mohamed VI, Marrakech, Maroc.

Stiff person syndrome (SPS) is a rare disease affecting the central nervous system which can be autoimmune, paraneoplastic or idiopathic in origin. Its typical classic presentation is characterized by progressive stiffness of the trunk and limbs, associated with spasms. The diagnosis is supported by the existence of continuous and spontaneous muscle activity on electroneuromyogram detection, the presence of serum anti-GAD antibodies, and a response to benzodiazepines. Read More

Front Neurol 2021 17;12:692240. Epub 2021 Sep 17.

Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, United States.

To report clinical characteristics and fluorodeoxyglucose positron emission tomography (FDG-PET) findings in the brain and muscles of individuals with stiff person syndrome (SPS) spectrum disorders (SPSSDs). Retrospective cohort study from 1997 to 2018 at Johns Hopkins Hospital identified 170 individuals with SPS or cerebellar ataxia (CA) associated with anti-glutamic acid decarboxylase (anti-GAD)-65 antibodies. Fifty-one underwent FDG-PET, with 50 involving the body and 30 with dedicated brain acquisition. Read More

Neuroimage Clin 2021 20;32:102826. Epub 2021 Sep 20.

AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Neurology 2 Department Mazarin, F-75013 Paris, France; Sorbonne Université, Inserm, CNRS, Paris Brain Institute, Institut du Cerveau et de la Moelle épinière, ICM, F-75013 Paris, France. Electronic address:

Neurological disorders associated with anti-glutamic acid decarboxylase (GAD) autoimmunity are rare and include a variety of neurological syndromes: stiff-person syndrome, cerebellar ataxia or limbic encephalitis. The diagnosis remains challenging due to the variety of symptoms and normal brain imaging. The morphological MRI of 26 patients (T1-weighted and Fluid-attenuated inversion recovery (FLAIR)-weighted images) was analyzed at the initial stage of diagnosis, matched by age and sex to 26 healthy subjects. Read More

Vox Sang 2022 Mar 20;117(3):393-398. Epub 2021 Sep 20.

Institute of Transfusion Medicine and Haemotherapy, University of Wuerzburg, Wuerzburg, Germany.

Background And Objectives: Immunoadsorptions (IA) are used to remove autoantibodies from the plasma in autoimmune disorders. In this study, we evaluated the effects of a single-use, recombinant staphylococcal protein A-based immunoadsorber on blood composition of the patient.

Materials And Methods: In a cohort of patients with myasthenia gravis or stiff-person syndrome, essential parameters of blood cell count, coagulation, clinical chemistry or plasma proteins and immunoglobulins (Ig) were measured before and after IA (n = 11). Read More

Neurol India 2021 Jul-Aug;69(4):1053-1054

Department of Neurology, Chung-Ang University Hospital, Chung-Ang University College of Medicine, Seoul, Republic of Korea.

Mov Disord Clin Pract 2021 Aug 18;8(6):868-874. Epub 2021 Jun 18.

Department of Neurology University Hospitals Birmingham Birmingham United Kingdom.

Background: Stiff person syndrome (SPS) is an autoimmune condition involving antibodies against several components of the inhibitory synapse in the spinal cord, with glutamic acid decarboxylase antibodies being the predominant immune marker. SPS affects approximately 1 patient per million population per year. The effect of intravenous immunoglobulin (IVIG) has been established, but studies on the long-term efficacy of regular IVIG are limited. Read More

Clin Nucl Med 2022 Feb;47(2):e125-e128

Department of Neurology, Nizam's Institute of Medical Sciences, Hyderabad, India.

Abstract: Paraneoplastic cerebellar degeneration (PCD) is an immune-mediated neurological disease characterized by adaptive immune response against onconeural antigens physiologically expressed in the cerebellum. It is characterized by presence of highly specific onconeural autoantibodies such as anti-Yo, anti-Hu, anti-Ri, and anti-Ma2 in the serum and cerebrospinal fluid as diagnostic biomarkers. Antiamphiphysin autoantibody-related paraneoplastic encephalitis is a less commonly seen autoimmune neurological disorder usually presenting as stiff person syndrome. Read More

Neurol Sci 2021 Oct 11;42(10):4095-4107. Epub 2021 Aug 11.

Department of Neurology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, 600 Yi Shan Road, Shanghai, 200233, China.

Startle, a basic alerting reaction common to all mammals, is described as a sudden involuntary movement of the body evoked by all kinds of sudden and unexpected stimulus. Startle syndromes are heterogeneous groups of disorders with abnormal and exaggerated responses to startling events, including hyperekplexia, stimulus-induced disorders, and neuropsychiatric startle syndromes. Hyperekplexia can be attributed to a genetic, idiopathic, or symptomatic cause. Read More