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Stiff person syndrome

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https://www.readbyqxmd.com/read/29110193/paraneoplastic-stiff-person-syndrome-secondary-to-pancreatic-adenocarcinoma
#1
Stephanie Yu Shan Yong, Jin Yao Teo, Kok Pin Yong, Brian K P Goh
No abstract text is available yet for this article.
November 6, 2017: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
https://www.readbyqxmd.com/read/29097081/paraneoplastic-autoimmune-movement-disorders
#2
Thien Thien Lim
PURPOSE OF REVIEW: To provide an overview of paraneoplastic autoimmune disorders presenting with various movement disorders. RECENT FINDINGS: The spectrum of paraneoplastic autoimmune disorders has been expanding with the discovery of new antibodies against cell surface and intracellular antigens. Many of these paraneoplastic autoimmune disorders manifest as a form of movement disorder. With the discovery of new neuronal antibodies, an increasing number of idiopathic or neurodegenerative movement disorders are now being reclassified as immune-mediated movement disorders...
October 13, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29053777/movement-disorders-with-neuronal-antibodies-syndromic-approach-genetic-parallels-and-pathophysiology
#3
Bettina Balint, Angela Vincent, Hans-Michael Meinck, Sarosh R Irani, Kailash P Bhatia
Movement disorders are a prominent and common feature in many autoantibody-associated neurological diseases, a group of potentially treatable conditions that can mimic infectious, metabolic or neurodegenerative disease. Certain movement disorders are likely to associate with certain autoantibodies; for example, the characteristic dyskinesias, chorea and dystonia associated with NMDAR antibodies, stiff person spectrum disorders with GAD, glycine receptor, amphiphysin or DPPX antibodies, specific paroxysmal dystonias with LGI1 antibodies, and cerebellar ataxia with various anti-neuronal antibodies...
September 25, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29042526/-differential-diagnosis-of-immune-mediated-encephalopathies-neurological-symptoms-of-diffuse-brain-damage-a-new-concept
#4
Yoshimitsu Maki, Hiroshi Takashima
In recent years, incidence of autoimmune encephalopathies has increased. The diagnosis of the severe form of autoimmune encephalopathy is not difficult; however, milder forms can be misdiagnosed as general encephalopathies. We often treat Hashimoto's encephalopathy, which has diverse clinical symptoms and is often misdiagnosed as a psychosomatic disease. We have found that the neurological findings and symptoms of patients with Hashimoto's encephalopathy are similar to those of psychogenic diseases, such as giveway weakness and atypical sensory disorder...
October 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/29040122/treatment-and-resolution-of-filamentary-keratitis-in-a-patient-with-stiff-person-syndrome
#5
Steven S Bae, Sonia N Yeung, Clara C Chan
PURPOSE: To report a rare case of filamentary keratitis associated with stiff person syndrome. METHODS: Case report. RESULTS: A 26-year-old woman with several autoimmune conditions was referred because of filamentary keratitis. Conservative management using lubrication, mucolytics, and bandage contact lenses failed to adequately relieve symptoms. Despite the addition of oral prednisone, cyclosporine, and azathioprine, the patient's condition persisted with numerous filaments and severe dry eye...
October 13, 2017: Cornea
https://www.readbyqxmd.com/read/28975404/neuronal-autoantibodies-differentiating-clinically-relevant-and-clinically-irrelevant-results
#6
Hesham Abboud, Ian Rossman, Maureen A Mealy, Eddie Hill, Nicolas Thompson, Aditya Banerjee, John Probasco, Michael Levy
The aim of this study is to compare the rates of clinically relevant and clinically irrelevant neuronal autoantibodies among patients presenting with new neurological symptoms. We reviewed 401 neurological patients who were tested for the Mayo-Clinic paraneoplastic panel from January 2014 to December 2014 at the Johns Hopkins Hospital. We divided antibody-positive patients into two groups: clinically relevant (CR), in which a recognizable autoimmune or paraneoplastic syndrome was confirmed, and clinically irrelevant (CI), in which an autoimmune/paraneoplastic etiology was initially suspected but an alternative diagnosis was eventually found...
November 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28890837/why-it-is-not-always-anxiety-a-tough-diagnosis-of-stiff-person-syndrome
#7
Carmen Elena Cervantes, Hsien Lee Lau, Tina Ataian Binazir, Keith O O'Brien, Jonathan S Cross
Anxiety disorder is a commonly used diagnosis that may mask underlying conditions. Stiff person syndrome (SPS) is a rare neuroimmunological disorder characterized by progressive rigidity and painful muscle spasms affecting axial and lower extremity musculature. These episodes can be triggered by sudden movement, noise, or emotional stress, which may present as a psychiatric condition. We report the case of a 30-year-old female who presented with recurrent panic attacks with multiple prior hospital admissions for anxiety, rigidity, and difficulty in walking...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28779989/biomechanical-description-of-phonation-in-children-affected-by-williams-syndrome
#8
Irene Hidalgo de la Guía, Pedro Gómez Vilda, Elena Garayzábal Heinze
The voice of persons with Williams syndrome (WS) is described as hoarse with a deep and unstable fundamental frequency (f0). These observations may be justified by the deficit of elastin due to a haplo-insufficiency in the ELN gene characteristic of the syndrome. In view of the possible relationship between elastin deficit and dysphonia, a study of the dynamic function of WS phonation was conducted by means of biomechanical analysis. In order to assess the presence of dysphonic symptoms and their degree of severity, the biomechanical description of WS phonation has been evaluated in terms of dynamic mass and viscoelasticity estimates...
August 2, 2017: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/28749549/a-double-blind-placebo-controlled-study-of-rituximab-in-patients-with-stiff-person-syndrome
#9
RANDOMIZED CONTROLLED TRIAL
Marinos C Dalakas, Goran Rakocevic, James M Dambrosia, Harry Alexopoulos, Beverly McElroy
OBJECTIVE: In stiff person syndrome (SPS), an antibody-mediated impaired γ-aminobutyric acidergic (GABAergic) neurotransmission is believed to cause muscle stiffness and spasms. Most patients improve with GABA-enhancing drugs and intravenous immunoglobulin, but some respond poorly and remain disabled. The need for more effective therapy prompted a trial with the anti-CD20 monoclonal antibody rituximab. METHODS: This was a placebo-controlled randomized trial of rituximab (2 biweekly infusions of 1g each)...
August 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28689294/cerebellar-disease-associated-with-anti-glutamic-acid-decarboxylase-antibodies-review
#10
REVIEW
José Fidel Baizabal-Carvallo, Marlene Alonso-Juarez
Several neurological syndromes have been recognized associated to GAD antibodies. Among those disorders, cerebellar ataxia (CA) is one of the most common, along with stiff-person syndrome. Patients with GAD associated CA present with a progressive pancerebellar syndrome, with a subacute or chronic evolution, along with other neurological manifestations such as stiffness, oculomotor dysfunction, epilepsy, and cognitive dysfunction. These symptoms may be preceded by the so-called "brainstem attacks", where manifestations consistent with transient dysfunction of the brainstem may be observed...
October 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28686853/wdr26-haploinsufficiency-causes-a-recognizable-syndrome-of-intellectual-disability-seizures-abnormal-gait-and-distinctive-facial-features
#11
Cara M Skraban, Constance F Wells, Preetha Markose, Megan T Cho, Addie I Nesbitt, P Y Billie Au, Amber Begtrup, John A Bernat, Lynne M Bird, Kajia Cao, Arjan P M de Brouwer, Elizabeth H Denenberg, Ganka Douglas, Kristin M Gibson, Katheryn Grand, Alice Goldenberg, A Micheil Innes, Jane Juusola, Marlies Kempers, Esther Kinning, David M Markie, Martina M Owens, Katelyn Payne, Richard Person, Rolph Pfundt, Amber Stocco, Claire L S Turner, Nienke E Verbeek, Laurence E Walsh, Taylor C Warner, Patricia G Wheeler, Dagmar Wieczorek, Alisha B Wilkens, Evelien Zonneveld-Huijssoon, Tjitske Kleefstra, Stephen P Robertson, Avni Santani, Koen L I van Gassen, Matthew A Deardorff
We report 15 individuals with de novo pathogenic variants in WDR26. Eleven of the individuals carry loss-of-function mutations, and four harbor missense substitutions. These 15 individuals comprise ten females and five males, and all have intellectual disability with delayed speech, a history of febrile and/or non-febrile seizures, and a wide-based, spastic, and/or stiff-legged gait. These subjects share a set of common facial features that include a prominent maxilla and upper lip that readily reveal the upper gingiva, widely spaced teeth, and a broad nasal tip...
July 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28604555/immune-related-neurological-symptoms-in-an-adolescent-patient-receiving-the-checkpoint-inhibitor-nivolumab
#12
Dmitry Tchapyjnikov, Alexandra J Borst
Immune checkpoint inhibitors are a novel group of immunotherapeutic agents for the treatment of cancer. Immune-related adverse events, including neurological symptoms, have been associated with these agents. We present the case of an adolescent with refractory Hodgkin lymphoma treated with nivolumab, a PD1 inhibitor, who developed Hashimoto thyroiditis, posterior reversible encephalopathy syndrome causing seizures, as well as urinary retention, truncal/appendicular spasticity, dysphagia, and a progressive encephalopathy that was clinically consistent with a diagnosis of progressive encephalopathy with rigidity and myoclonus, a stiff-person-syndrome spectrum disorder...
September 2017: Journal of Immunotherapy
https://www.readbyqxmd.com/read/28602446/stiff-person-syndrome-presenting-after-the-initiation-of-buspirone
#13
Ibrahim Sablaban, Deepak Prabhakar
No abstract text is available yet for this article.
April 24, 2017: Psychosomatics
https://www.readbyqxmd.com/read/28552871/a-case-of-stiff-person-syndrome-due-to-secondary-adrenal-insufficiency
#14
Yuri Mizuno, Hiroo Yamaguchi, Taira Uehara, Kenichiro Yamashita, Ryo Yamasaki, Jun-Ichi Kira
We report a case of flexion contractures in a patient's legs secondary to postpartum hypopituitarism. A 56-year-old woman presented with a 3-year history of worsening flexion contractures of the hips and knees. On admission, her hips and knees could not be extended, and she had muscle stiffness and tenderness to palpation of the lower extremities. We first suspected stiff-person syndrome or Isaacs' syndrome because of her muscle stiffness. However, multiple hormones did not respond to stimulation tests, and an MRI of the brain showed atrophy of the pituitary gland with an empty sella...
June 28, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28513244/different-relationship-between-physical-activity-arterial-stiffness-and-metabolic-status-in-obese-subjects
#15
Hyung Joon Joo, Sang-A Cho, Jae-Young Cho, Seunghun Lee, Jae Hyung Park, Cheol Woong Yu, Soon Jun Hong, Do-Sun Lim
BACKGROUND: Although the relationship between physical activity and arterial stiffness has been shown in healthy persons, it remains controversial in obese persons. METHODS: From January to September 2014, we evaluated 795 obese subjects from 25 public health centers in Seoul. We compared physical activity and brachial-ankle pulse wave velocity (baPWV) between obese subjects with metabolic syndrome (MetS) (MO) and obese subjects without MetS (NMO). RESULTS: The MO group had more men, higher body mass index (BMI), higher fasting glucose level, lower high-density lipoprotein-cholesterol level, and higher triglyceride level...
May 17, 2017: Journal of Physical Activity & Health
https://www.readbyqxmd.com/read/28496986/a-case-of-stiff-dog-syndrome-associated-with-anti-glutamic-acid-decarboxylase-antibodies
#16
Theresa E Pancotto, John H Rossmeisl
BACKGROUND: The stiff person syndrome (SPS) is a rare and debilitating autoimmune disorder with an unknown pathogenesis and variable clinical presentation that can present a diagnostic challenge. Although entities that clinically mimic stiff-person spectrum disorders (SPSD) have manifested in horses, they have not been reported in dogs. CASE PRESENTATION: We describe a 2-year-old beagle dog presented for progressive attacks of muscular rigidity and lordosis with superimposed spasms of the appendicular muscles triggered by tactile stimulation which resulted in marked gait impairment...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28360797/stiff-person-syndrome-with-pyramidal-signs
#17
Mecbure Nalbantoğlu, Hasan Battal, Meral E Kiziltan, Mehmet Ali Akalin, Güneş Kiziltan
No abstract text is available yet for this article.
June 2016: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28358591/central-sleep-apnea-and-stiff-person-syndrome-a-case-report
#18
Marie Netchitaïlo, Jacques Senant, Florence Portier, Catherine Tardif
No abstract text is available yet for this article.
May 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28355320/clinical-characteristics-of-patients-with-cerebellar-ataxia-associated-with-anti-gad-antibodies
#19
Tiago Silva Aguiar, Andrea Fragoso, Carolina Rouanet de Albuquerque, Patrícia de Fátima Teixeira, Marcus Vinícius Leitão de Souza, Lenita Zajdenverg, Soniza Vieira Alves-Leon, Melanie Rodacki, Marco Antônio Sales Dantas de Lima
Methods: This retrospective and descriptive study evaluated the clinical characteristics and outcomes of patients with CA-GAD-ab. Result: Three patients with cerebellar ataxia, high GAD-ab titers and autoimmune endocrine disease were identified. Patients 1 and 2 had classic stiff person syndrome and insidious-onset cerebellar ataxia, while Patient 3 had pure cerebellar ataxia with subacute onset. Patients received intravenous immunoglobulin therapy with no response in Patients 1 and 3 and partial recovery in Patient 2...
March 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28326749/a-case-of-autoimmune-polyendocrine-syndrome-type-i-with-strong-positive-gad-antibody-titer-followed-up-with-glucose-tolerance-measured-by-oral-glucose-tolerance-test
#20
Rie Murakami, Toshihide Kawai, Shu Meguro, Matsuhiko Hayashi, Hiroshi Itoh
A 26-year-old Japanese woman presented with adrenal insufficiency, and treatment was started with cortisone and fludrocortisone in 1975. A few years later, she presented with hypoparathyroidism and was diagnosed with autoimmune polyendocrine syndrome type I (APS I), and treatment with calcium and alfacalcidol was started. She was found to have subacute thyroiditis and relative adrenal failure in 2006. Her condition remained stable under treatment with cortisone, fludrocortisone, levothyroxine, calcium lactate, precipitated calcium carbonate and alfacalcidol...
January 2017: Neuro Endocrinology Letters
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