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https://www.readbyqxmd.com/read/28689294/cerebellar-disease-associated-with-anti-glutamic-acid-decarboxylase-antibodies-review
#1
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...
July 8, 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
#2
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
#3
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...
June 9, 2017: Journal of Immunotherapy
https://www.readbyqxmd.com/read/28602446/stiff-person-syndrome-presenting-after-the-initiation-of-buspirone
#4
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
#5
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...
May 26, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28513244/different-relationship-between-physical-activity-arterial-stiffness-and-metabolic-status-in-obese-subjects
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/28306573/redefining-progressive-encephalomyelitis-with-rigidity-and-myoclonus-after-the-discovery-of-antibodies-to-glycine-receptors
#12
Sarah J Crisp, Bettina Balint, Angela Vincent
PURPOSE OF REVIEW: This review highlights the recent discovery of antibodies to glycine receptor (GlyR-Ab) and discusses the relationship between these antibodies and neurological disorders. RECENT FINDINGS: Since the initial description in 2008 of antibodies to glycine receptors (GlyR-Abs) in a patient with progressive encephalomyelitis with rigidity and myoclonus (PERM), these antibodies have been found in PERM and in some patients with a variety of stiff person spectrum (SPS) or related disorders...
June 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28120141/autoimmune-movement-disorders-a-clinical-and-laboratory-approach
#13
REVIEW
Josephe Archie Honorat, Andrew McKeon
Autoimmune movement disorders are caused by an aberrant immune response to neural self-antigens. These disorders may be paraneoplastic, parainfectious, or (most commonly) idiopathic. The neurological presentations are diverse, and sometimes multifocal. Movement disorders can occur as part of the spectrum with phenotypes including chorea, myoclonus, ataxia, CNS hyperexcitability (including stiff-person syndrome), dystonia, and parkinsonism. Symptoms are subacute in onset and may have a fluctuating course. The best characterized disorders are unified by neural autoantibodies identified in serum or cerebrospinal fluid...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28063151/gad65-neurological-autoimmunity
#14
Andrew McKeon, Jennifer A Tracy
The glutamic acid decarboxylase 65-kilodalton isoform (GAD65) antibody is a biomarker of autoimmune central nervous system (CNS) disorders and, more commonly, nonneurological autoimmune diseases. Type 1 diabetes, autoimmune thyroid disease, and pernicious anemia are the most frequent GAD65 autoimmune associations. One or more of these disorders coexists in approximately 70% of patients with GAD65 neurological autoimmunity. Neurological phenotypes have CNS localization and include limbic encephalitis, epilepsy, cerebellar ataxia, and stiff-person syndrome (SPS), among others...
July 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28028432/rhabdomyolysis-and-autoimmune-variant-stiff-person-syndrome
#15
Shreyas Gangadhara, Suhas Gangadhara, Chetan Gandhy, Derrick Robertson
Stiff-person syndrome (SPS) is a rare neurologic disorder characterized by waxing and waning muscular rigidity, stiffness and spasms. Three subtypes have been described: paraneoplastic, autoimmune and idiopathic. Rhabdomyolysis has been described in the paraneoplastic variant, but to our knowledge no case has been reported involving the autoimmune variant. We report a case report of a 50-year-old man with history of SPS who presented with recurrent episodes of severe limb and back spasms. He was hospitalized on two separate occasions for uncontrollable spasms associated with renal failure and creatinine phosphokinase elevations of 55,000 and 22,000 U/L respectively...
October 24, 2016: Clinics and Practice
https://www.readbyqxmd.com/read/28017232/stiff-person-syndrome-masquerading-as-multiple-sclerosis
#16
Joseph J Sabatino, Scott D Newsome
BACKGROUND: Stiff person syndrome (SPS) is a rare neuroimmunological disorder presenting with a wide variety of signs and symptoms that mimic neuro-inflammatory diseases, such as multiple sclerosis (MS), thus delaying diagnosis. METHODS: We performed a retrospective chart review of over 100 patients with SPS who were treated at Johns Hopkins Hospital and identified five patients previously diagnosed with MS. RESULTS: Patients were female with a mean age of 53years old (range 43-64)...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27905901/presynaptic-neuromuscular-transmission-defect-in-the-stiff-person-syndrome
#17
Y L Lo, Y E Tan
BACKGROUND: The stiff person syndrome (SPS) is a rare disorder characterized by muscular rigidity and stiffness. CASE PRESENTATIONS: We describe an SPS patient presenting with longstanding fatigue and electrophysiological evidence of presynaptic neuromuscular transmission defect, who responded to administration of pyridostigmine. In contrast, no electrophysiolgical evidence of neuromuscular transmission defect was demonstrated in 2 other SPS patients without fatigue symptoms...
December 1, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27861223/gastrointestinal-and-urologic-sphincter-dysfunction-in-stiff-person-syndrome
#18
Oana M Dumitrascu, Evgeny I Tsimerinov, Richard A Lewis
OBJECTIVES: Stiff person syndrome is a neurologic disorder characterized by axial rigidity leading to progressive disability, with broad clinical spectrum. METHODS: We report 2 cases with unique clinical presentation. RESULTS: Two young men suffered progressive urinary retention requiring bladder catheterization, anorectal spasms and constipation, complicated subsequently with lower extremity trigger-induced spasms, and gait instability. Associated symptoms revealed brainstem involvement (vertigo, diplopia, and cranial neuropathies) and dysautonomia (abnormal sweating and orthostatic hypotension)...
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27761484/erratum-serotonin-norepinephrine-reuptake-inhibitors-may-exacerbate-stiff-person-syndrome
#19
(no author information available yet)
[This corrects the article on p. e281 in vol. 3, PMID: 27606356.].
December 2016: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/27759100/the-astrocytic-transporter-slc7a10-asc-1-mediates-glycinergic-inhibition-of-spinal-cord-motor-neurons
#20
Jeffrey T Ehmsen, Yong Liu, Yue Wang, Nikhil Paladugu, Anna E Johnson, Jeffrey D Rothstein, Sascha du Lac, Mark P Mattson, Ahmet Höke
SLC7A10 (Asc-1) is a sodium-independent amino acid transporter known to facilitate transport of a number of amino acids including glycine, L-serine, L-alanine, and L-cysteine, as well as their D-enantiomers. It has been described as a neuronal transporter with a primary role related to modulation of excitatory glutamatergic neurotransmission. We find that SLC7A10 is substantially enriched in a subset of astrocytes of the caudal brain and spinal cord in a distribution corresponding with high densities of glycinergic inhibitory synapses...
October 19, 2016: Scientific Reports
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