SPS
MCID: STF001
MIFTS: 60

Stiff-Person Syndrome (SPS)

Categories: Blood diseases, Endocrine diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Stiff-Person Syndrome

MalaCards integrated aliases for Stiff-Person Syndrome:

Name: Stiff-Person Syndrome 56 12 53 43 15 17 71
Stiff-Man Syndrome 56 12 54
Stiff Man Syndrome 12 52 58
Sps 56 52 58
Stiff Person Syndrome and Related Disorders 52 58
Moersch-Woltman Syndrome 52 58
Stiff Person Syndrome 74 52
Sms 52 58
Progressive Encephalomyelitis with Rigidity and Myoclonus 58
Progressive Encephalomyelitis with Rigidity 71
Classic Stiff Person Syndrome 58
Focal Stiff-Person Syndrome 58
Focal Stiff Limb Syndrome 58
Morsch Woltman Syndrome 52
Stiff-Trunk Syndrome 56
Stiff Leg Syndrome 58
Classic Sps 58
Perm 58

Characteristics:

Orphanet epidemiological data:

58
stiff person syndrome and related disorders
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (United Kingdom),<1/1000000 (Tanzania, United Republic of); Age of onset: Adult; Age of death: normal life expectancy;
progressive encephalomyelitis with rigidity and myoclonus
Inheritance: Not applicable; Age of onset: Adult;
classic stiff person syndrome
Inheritance: Not applicable; Age of onset: Adult; Age of death: adult,elderly;
focal stiff limb syndrome
Inheritance: Not applicable;

OMIM:

56
Miscellaneous:
adult onset
acquired sporadic disorder
episodes may be precipitated by fear, unexpected noises, emotional responses, movement
good response to immunotherapy (intravenous igg or plasmapheresis)
good response to gaba-enhancing medications
see also congenital stiff person syndrome

Inheritance:
isolated cases


HPO:

31
stiff-person syndrome:
Inheritance sporadic
Onset and clinical course adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases


Summaries for Stiff-Person Syndrome

OMIM : 56 The stiff-person syndrome (SPS) is most often an adult-onset sporadic acquired disorder characterized by progressive muscle stiffness with superimposed painful muscle spasms accompanied by electromyographic evidence of continuous motor activity at rest. SPS has been associated with autoimmune disorders, diabetes mellitus, thyrotoxicosis, and hypopituitarism with adrenal insufficiency (George et al., 1984). Approximately 60% of patients with SPS have antibodies to glutamic acid decarboxylase (GAD2, or GAD65; 138275), the rate-limiting enzyme in the synthesis of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA), suggesting an immune-mediated pathogenesis (Folli et al., 1993). Approximately 10% of patients develop SPS as a paraneoplastic neurologic disorder associated with antibodies to amphiphysin (AMPH; 600418), an intracellular protein associated with neuronal synaptic vesicle endocytosis (Burns, 2005). See also congenital stiff-man syndrome, or hereditary hyperexplexia (149400), which is caused by mutations in subunits of the glycine receptor gene (GLRA1, 138491; GLRB, 138492). Meinck and Thompson (2002) provided a detailed review of stiff-person syndrome. They also discussed 2 possibly related conditions, progressive encephalomyelitis with rigidity (PERM), a more severe disorder with other neurologic features, and stiff-limb or stiff-leg syndrome, a focal disorder. (184850)

MalaCards based summary : Stiff-Person Syndrome, also known as stiff-man syndrome, is related to hyperekplexia 1 and alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity, and has symptoms including fever, opisthotonus and increased sweating. An important gene associated with Stiff-Person Syndrome is AMPH (Amphiphysin), and among its related pathways/superpathways are DAG and IP3 signaling and Neuroscience. The drugs Carmustine and Mechlorethamine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, testes and brain, and related phenotypes are hyperhidrosis and emg abnormality

Disease Ontology : 12 A movement disease that is of unknown etiology characterized by progressive rigidity.

NIH Rare Diseases : 52 Stiff person syndrome (SPS) is a rare, progressive syndrome that affects the nervous system , specifically the brain and spinal cord. Symptoms may include extreme muscle stiffness, rigidity and painful spasms in the trunk and limbs, severely impairing mobility. Spasms can generate enough force to fracture bone. People with SPS often have heightened sensitivity to noise, sudden movements, and emotional distress, which can set off muscle spasms. Persistent symptoms can lead to abnormal posturing of the spine, such as being hunched over. The syndrome affects twice as many women as men. SPS is caused by increased muscle activity due to decreased inhibition of the central nervous system . It is thought to have an autoimmune component and is often associated with diabetes , as well as other autoimmune diseases such as thyroiditis , vitiligo , and pernicious anemia. It may be diagnosed after having various tests including blood tests (including a test showing elevated glutamic acid decarboxylase (GAD ) antibodies ), a lumbar puncture, and electromyography . Treatment aims to control symptoms and improve mobility, and may involve benzodiazepines , muscle relaxants, and/or intravenous immunoglobulin (IVIG) . While some people with SPS may maintain reasonable levels of activity with treatment, the majority become disabled over time.

NINDS : 53 Stiff-person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease.  SPS is characterized by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as noise, touch, and emotional distress, which can set off muscle spasms.  Abnormal postures, often hunched over and stiffened, are characteristic of the disorder.  People with SPS can be too disabled to walk or move, or they are afraid to leave the house because street noises, such as the sound of a horn, can trigger spasms and falls.  SPS affects twice as many women as men.   It is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia.  Scientists don’t yet understand what causes SPS, but research indicates that it is the result of an autoimmune response gone awry in the brain and spinal cord.  The disorder is often misdiagnosed as Parkinson’s disease, multiple sclerosis, fibromyalgia, psychosomatic illness, or anxiety and phobia.  A definitive diagnosis can be made with a blood test that measures the level of glutamic acid decarboxylase (GAD) antibodies in the blood.  People with SPS have elevated levels of GAD, an antibody that works against an enzyme involved in the synthesis of an important neurotransmitter in the brain.

Wikipedia : 74 Stiff-person syndrome (SPS), also known as stiff-man syndrome (SMS), is a rare neurologic disorder of... more...

Related Diseases for Stiff-Person Syndrome

Diseases related to Stiff-Person Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1447)
# Related Disease Score Top Affiliating Genes
1 hyperekplexia 1 33.1 GPHN GLRB GLRA1
2 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.9 INS GAD2 GAD1
3 encephalitis 30.5 LGI1 CNTNAP2 AMPH
4 limbic encephalitis 30.4 LGI1 GAD2 GAD1 AMPH
5 movement disease 30.2 TH GAD2 AMPH
6 autoimmune polyendocrine syndrome 30.1 TH INS GAD2 GAD1
7 plexopathy 30.1 DPYSL5 AMPH
8 diabetes mellitus, ketosis-prone 30.1 INS GAD2 GAD1
9 neurotic disorder 30.1 TH INS
10 autoimmune polyendocrine syndrome, type ii 30.1 INS GAD2 GAD1
11 cerebellar disease 29.9 GAD2 GAD1 DPYSL5 AMPH
12 anxiety 29.9 TH INS GAD2 GAD1
13 disease of mental health 29.9 TH INS GAD1
14 aceruloplasminemia 29.7 TH INS GAD2 DPYSL5 CNTNAP2 AMPH
15 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 29.7 TH GAD2 GAD1
16 mutism 29.7 LGI1 CNTNAP2
17 spastic cerebral palsy 29.7 GAD2 GAD1
18 choreatic disease 29.6 LGI1 DPYSL5 CNTNAP2
19 focal epilepsy 29.6 LGI1 GAD1 CNTNAP2
20 neuromuscular disease 29.3 LGI1 DPYSL5 CNTNAP2 AMPH
21 autism spectrum disorder 28.4 GPHN GAD2 GAD1 DPP6 CNTNAP2
22 hyperekplexia 28.3 LGI1 GPHN GLRB GLRA4 GLRA3 GLRA2
23 autism 27.8 TH GPHN GLRB GAD2 GAD1 DPP6
24 amnestic disorder 27.4 LGI1 GLRB GLRA4 GLRA3 GLRA2 GAD1
25 sm-ahnmd 12.4
26 smith-magenis syndrome 12.4
27 mental retardation, x-linked, syndromic, snyder-robinson type 12.1
28 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 12.1
29 syndromic x-linked intellectual disability snyder type 12.0
30 singleton-merten syndrome 11.9
31 systemic mastocytosis 11.8
32 systemic mastocytosis with associated hematologic neoplasm 11.7
33 surfactant dysfunction 11.6
34 surfactant metabolism dysfunction, pulmonary, 1 11.5
35 surfactant metabolism dysfunction, pulmonary, 2 11.5
36 potocki-lupski syndrome 11.5
37 mast-cell leukemia 11.5
38 paraneoplastic syndromes 11.5
39 tularemia 11.5
40 farmer's lung 11.5
41 chromosome 2q37 deletion syndrome 11.3
42 microcephaly 1, primary, autosomal recessive 11.3
43 steatocystoma multiplex 11.2
44 streptococcus pneumoniae-associated hemolytic uremic syndrome 11.2
45 aneruptive fever 11.2
46 ventilation pneumonitis 11.2
47 absence of septum pellucidum 11.2
48 paraneoplastic neurologic disorders 11.2
49 posttransplant acute limbic encephalitis 10.7
50 myxozoa 10.7

Graphical network of the top 20 diseases related to Stiff-Person Syndrome:



Diseases related to Stiff-Person Syndrome

Symptoms & Phenotypes for Stiff-Person Syndrome

Human phenotypes related to Stiff-Person Syndrome:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
2 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
3 anxiety 58 31 hallmark (90%) Very frequent (99-80%) HP:0000739
4 falls 58 31 hallmark (90%) Very frequent (99-80%) HP:0002527
5 intermittent painful muscle spasms 58 31 hallmark (90%) Very frequent (99-80%) HP:0011964
6 emotional lability 58 31 frequent (33%) Frequent (79-30%) HP:0000712
7 rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0002063
8 exaggerated startle response 58 31 frequent (33%) Frequent (79-30%) HP:0002267
9 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
10 autoimmune antibody positivity 58 31 frequent (33%) Frequent (79-30%) HP:0030057
11 agoraphobia 58 31 frequent (33%) Frequent (79-30%) HP:0000756
12 paraspinal muscle hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012894
13 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
14 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
15 lumbar hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002938
16 hyperreflexia 31 HP:0001347
17 depressivity 31 HP:0000716
18 hypertension 31 HP:0000822
19 abnormality of the nervous system 58 Excluded (0%)
20 fever 31 HP:0001945
21 anemia 31 HP:0001903
22 autoimmunity 31 HP:0002960
23 vitiligo 31 HP:0001045
24 myoclonic spasms 31 HP:0003739
25 frequent falls 31 HP:0002359
26 tachycardia 31 HP:0001649
27 opisthotonus 31 HP:0002179
28 asymmetric limb muscle stiffness 31 HP:0007156
29 axial muscle stiffness 31 HP:0006921
30 proximal limb muscle stiffness 31 HP:0007066

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
rigidity
frequent falls
opisthotonus
proximal limb muscle stiffness
more
Neurologic Behavioral Psychiatric Manifestations:
anxiety
agoraphobia
depression
specific phobias

Skin Nails Hair Skin:
diaphoresis

Immunology:
associated with autoimmune disorders (e.g., diabetes mellitus, thyroiditis, pernicious anemia, vitiligo)
associated with autoantibodies to gad65 (anti-glutamic acid decarboxylase gad2, ) in serum and/or cerebrospinal fluid
approximately 60% of patients have anti-gad65 antibodies
associated with serum autoantibodies to glra1 (glycine receptor alpha-1 subunit , reported in 1 patient)

Cardiovascular Vascular:
hypertension

Cardiovascular Heart:
tachycardia

Metabolic Features:
hyperthermia

Neoplasia:
approximately 10% of cases are paraneoplastic
paraneoplastic sps is associated with breast cancer and other malignancies
paraneoplastic sps is associated with autoantibodies to amphiphysin (amph, )

Clinical features from OMIM:

184850

UMLS symptoms related to Stiff-Person Syndrome:


fever, opisthotonus, increased sweating, muscle rigidity, hyperexplexia

MGI Mouse Phenotypes related to Stiff-Person Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 AMPH CNTNAP2 CSAD DPYSL5 GAD1 GAD2
2 nervous system MP:0003631 10 AMPH CNTNAP2 DPP6 DPYSL5 GAD1 GAD2
3 no phenotypic analysis MP:0003012 9.5 GAD1 GAD2 GLRA1 GLRA2 GLRA3 INS
4 vision/eye MP:0005391 9.28 GAD2 GLRA1 GLRA2 GLRA3 GLRB GPHN

Drugs & Therapeutics for Stiff-Person Syndrome

Drugs for Stiff-Person Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carmustine Approved, Investigational Phase 2 154-93-8 2578
2
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
3
Etoposide Approved Phase 2 33419-42-0 36462
4
Melphalan Approved Phase 2 148-82-3 4053 460612
5
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
6
Cytarabine Approved, Experimental, Investigational Phase 2 147-94-4, 65-46-3 6253
7
Sargramostim Approved, Investigational Phase 1, Phase 2 123774-72-1, 83869-56-1
8
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
9
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
10
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
11
Lenograstim Approved, Investigational Phase 1, Phase 2 135968-09-1
12 Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
13
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
14
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
15
Mesna Approved, Investigational Phase 1, Phase 2 3375-50-6 598
16
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
17
Phenylalanine Approved, Investigational, Nutraceutical Phase 2 63-91-2 6140
18
Cortisone Experimental Phase 2 53-06-5 222786
19
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
20 Podophyllotoxin Phase 2 518-28-5
21 Anti-Infective Agents Phase 2
22 Topoisomerase Inhibitors Phase 2
23 Antiviral Agents Phase 2
24 Nitrogen Mustard Compounds Phase 2
25 Etoposide phosphate Phase 2
26 Antimetabolites Phase 2
27 Thymoglobulin Phase 1, Phase 2
28 Alkylating Agents Phase 1, Phase 2
29 Antibodies, Monoclonal Phase 1, Phase 2
30 Methylprednisolone Acetate Phase 1, Phase 2
31 Gastrointestinal Agents Phase 1, Phase 2
32 Antiemetics Phase 1, Phase 2
33 Antineoplastic Agents, Immunological Phase 1, Phase 2
34 Hormone Antagonists Phase 1, Phase 2
35 Antirheumatic Agents Phase 1, Phase 2
36 Neuroprotective Agents Phase 1, Phase 2
37 Antilymphocyte Serum Phase 1, Phase 2
38 polysaccharide-K Phase 1, Phase 2
39 Immunosuppressive Agents Phase 1, Phase 2
40 Anti-Inflammatory Agents Phase 1, Phase 2
41 Autonomic Agents Phase 1, Phase 2
42 Protective Agents Phase 1, Phase 2
43 Antineoplastic Agents, Hormonal Phase 1, Phase 2
44 glucocorticoids Phase 1, Phase 2
45 Hormones Phase 1, Phase 2
46
L-Alanine Nutraceutical Phase 2 56-41-7 5950
47
Glutamic acid Approved, Nutraceutical 56-86-0 33032
48 Autoantibodies

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 IVIg in Glycine Receptor Antibody Positive Stiff-person Syndrome (SPS) Spectrum Disorders. Withdrawn NCT03749096 Phase 3 Intravenous Immunoglobulins, Human;Placebos
2 Autologous Hematopoietic Cell Transplantation for Core-binding Factor Positive Acute Myeloid Leukemia in the First Complete Remission Unknown status NCT01146977 Phase 2
3 Efficacy of Rituximab in Patients With Stiff Person Syndrome With Anti-GAD Antibodies: A Randomized Placebo-Controlled Trial Completed NCT00091897 Phase 2 Rituximab;rituximab or placebo
4 High-Dose Immunosuppressive Therapy Using Carmustine, Etoposide, Cytarabine, and Melphalan (BEAM) + Thymoglobulin Followed by Syngeneic or Autologous Hematopoietic Cell Transplantation for Patients With Autoimmune Neurologic Diseases Recruiting NCT00716066 Phase 2 Carmustine;Cytarabine;Etoposide;Melphalan;Prednisone
5 Non-myeloablative Hematopoietic Stem Cell Transplantation for Stiff Person Syndrome (SPS) and Anti-GAD Antibody Variants: Progressive Encephalomyelitis With Rigidity and Myoclonus (PERM), and Adult Onset Autoimmune Anti-GAD Positive Cerebellar Ataxia Active, not recruiting NCT02282514 Phase 1, Phase 2 Cyclophosphamide;Mesna;rATG;Methylprednisolone;G-CSF;Rituxan
6 The Efficacy of High-Dose Intravenous Immunoglobulin Therapy in Patients With Stiff-Man Syndrome: A Double-Blind, Placebo-Controlled Trial Completed NCT00001550 Phase 1 IVIg
7 Natural History and Immunopathogenesis of Stiff Person Syndrome (SPS) Completed NCT00030940
8 The Effect of Head Out Water Immersion During Dialysis on Clinical Parameters, Hemodynamic Parameters, and Hormonal Parameters in 10 Hemodialysis Patients Completed NCT03057392
9 Gastroparesis Outcome Longitudinal Database Enrolled Numerically Recruiting NCT03876288 Immunotherapy
10 Exacerbation of Coronary Heart Disease: the Logic and Probabilistic Processes of Flow Prediction for Optimization of Treatment Active, not recruiting NCT04068909
11 Efficacy and Mechanism of Action of SCIg in Patients With Stiff Person Syndrome Not yet recruiting NCT03829826
12 Immunogenetic Characteristics in Autoimmune Encephalitis and Related Disorders: HLA Analysis Not yet recruiting NCT04106596
13 Autoimmunity Family Background in Neurological Syndromes With Antibodies Against Glutamic-acid Decarboxylase Not yet recruiting NCT04104620
14 Evaluation of the Long Term Efficacy of Enzyme Replacement Therapy in Fabry Disease Terminated NCT00149318

Search NIH Clinical Center for Stiff-Person Syndrome

Cochrane evidence based reviews: stiff-person syndrome

Genetic Tests for Stiff-Person Syndrome

Anatomical Context for Stiff-Person Syndrome

MalaCards organs/tissues related to Stiff-Person Syndrome:

40
Thyroid, Testes, Brain, Bone, Spinal Cord, Lung, T Cells

Publications for Stiff-Person Syndrome

Articles related to Stiff-Person Syndrome:

(show top 50) (show all 930)
# Title Authors PMID Year
1
Anti-glutamic acid decarboxylase antibodies in the serum and cerebrospinal fluid of patients with stiff-person syndrome: correlation with clinical severity. 61 52 56
15210528 2004
2
Stiff-person syndrome with amphiphysin antibodies: distinctive features of a rare disease. 54 61 56
18971449 2008
3
Paraneoplastic stiff-person syndrome: passive transfer to rats by means of IgG antibodies to amphiphysin. 54 61 56
15836889 2005
4
Stiff-person syndromes: motor cortex hyperexcitability correlates with anti-GAD autoimmunity. 54 61 56
15111674 2004
5
Clinically disparate stiff-person syndrome with GAD65 autoantibody in a father and daughter. 54 61 56
14610143 2003
6
High-dose intravenous immune globulin for stiff-person syndrome. 54 61 56
11756577 2001
7
Autoimmunity to gephyrin in Stiff-Man syndrome. 54 61 56
10839351 2000
8
Autoantibodies to a 128-kd synaptic protein in three women with the stiff-man syndrome and breast cancer. 54 61 56
8381208 1993
9
Unexpected benefit of propofol in stiff-person syndrome. 61 56
18172065 2008
10
Trak1 mutation disrupts GABA(A) receptor homeostasis in hypertonic mice. 61 56
16380713 2006
11
Eye movement abnormalities in stiff person syndrome. 61 56
16275836 2005
12
A neuropsychological assessment of phobias in patients with stiff person syndrome. 61 56
15955955 2005
13
Brain gamma-aminobutyric acid changes in stiff-person syndrome. 61 56
15956168 2005
14
A step forward for stiff-person syndrome. 61 56
15836869 2005
15
Stiff person syndrome does not always occur with maternal passive transfer of GAD65 antibodies. 61 56
15184624 2004
16
Levetiracetam improves paroxysmal symptoms in a patient with stiff-person syndrome. 61 56
14745090 2004
17
Neuropathology and binding studies in anti-amphiphysin-associated stiff-person syndrome. 61 56
12874398 2003
18
Stiff man syndrome and related conditions. 61 56
12360534 2002
19
The clinical spectrum of anti-GAD antibody-positive patients with stiff-person syndrome. 61 56
11094109 2000
20
Stiff man syndrome: neurophysiological findings in eight patients. 61 56
7751855 1995
21
Treatment of stiff-man syndrome with intravenous immunoglobulin. 61 56
7936291 1994
22
Stiff man syndrome: clinical and laboratory findings in eight patients. 61 56
8164018 1994
23
Autoantibodies to glutamic acid decarboxylase in a patient with stiff-man syndrome, epilepsy, and type I diabetes mellitus. 61 56
3281011 1988
24
Resolution of stiff-man syndrome with cortisol replacement in a patient with deficiencies of ACTH, growth hormone, and prolactin. 61 56
6325914 1984
25
Progressive encephalomyelitis, rigidity, and myoclonus: a novel glycine receptor antibody. 56
18852446 2008
26
Characterization of CD4+ T cells specific for glutamic acid decarboxylase (GAD65) and proinsulin in a patient with stiff-person syndrome but without type 1 diabetes. 54 61
20503259 2010
27
Antibodies and neuronal autoimmune disorders of the CNS. 54 61
20035430 2010
28
Rituximab treatment of stiff-person syndrome in a patient with thymoma, diabetes mellitus and autoimmune thyroiditis. 54 61
20071184 2010
29
Successful treatment with rituximab in a patient with stiff-person syndrome complicated by dysthyroid ophthalmopathy. 54 61
20118602 2010
30
[Stiff-person syndrome and other neurological disorders associated with anti-GAD antibodies]. 54 61
19828214 2010
31
Stiff-person syndrome with amphiphysin antibodies: distinctive features of a rare disease. 54 61
20018647 2009
32
Stiff person syndrome associated anti-amphiphysin antibodies reduce GABA associated [Ca(2+)]i rise in embryonic motoneurons. 54 61
19631746 2009
33
A case of stiff-person syndrome, type 1 diabetes, celiac disease and dermatitis herpetiformis. 54 61
19150172 2009
34
Insulin treatment in a patient with Type 2 diabetes and Stiff-person syndrome. 54 61
19125773 2009
35
Stiff-person syndrome with acute recurrent peripheral vertigo: possible evidence of gamma aminobutyric acid as a neurotransmitter in the vestibular periphery. 54 61
17666138 2008
36
Paraneoplastic effects on neurophthalmologic function. 54 61
17558343 2007
37
GAD antibody positive paraneoplastic stiff person syndrome in a patient with renal cell carcinoma. 54 61
17486640 2007
38
Effects of anti-glutamic acid decarboxylase antibodies associated with neurological diseases. 54 61
17600364 2007
39
Epilepsy and cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies. 54 61
17229747 2007
40
Autoimmunity to GABAA-receptor-associated protein in stiff-person syndrome. 54 61
16984900 2006
41
Distinct patterns of serum immunoreactivity as evidence for multiple brain-directed autoantibodies in juvenile neuronal ceroid lipofuscinosis. 54 61
16972881 2006
42
A rare saccade velocity profile in Stiff-Person Syndrome with cerebellar degeneration. 54 61
16725126 2006
43
Analysis of GAD65 autoantibodies in Stiff-Person syndrome patients. 54 61
16301686 2005
44
Structural model of human GAD65: prediction and interpretation of biochemical and immunogenic features. 54 61
15690345 2005
45
Potential role of anti-GAD antibodies in abnormal eye movements. 54 61
15826997 2005
46
Autoimmunity to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease. 54 61
15728308 2005
47
[Isaacs' syndrome, stiff person syndrome and Satoyoshi disease: pathomechanisms and treatment]. 54 61
15651297 2004
48
Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders. 54 61
15571623 2004
49
Stiff-person syndrome following West Nile fever. 54 61
15210535 2004
50
Rhabdomyolysis and paraneoplastic stiff-man syndrome with amphiphysin autoimmunity. 54 61
14755734 2004

Variations for Stiff-Person Syndrome

Expression for Stiff-Person Syndrome

Search GEO for disease gene expression data for Stiff-Person Syndrome.

Pathways for Stiff-Person Syndrome

Pathways related to Stiff-Person Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.82 GLRB GLRA4 GLRA3 GLRA2 GLRA1
2 12.3 TH GPHN GAD2 GAD1 CNTNAP2
3
Show member pathways
12.27 GPHN GAD2 GAD1 GABARAP
4
Show member pathways
12.22 GLRB GLRA4 GLRA3 GLRA2 GLRA1
5 11.48 TH GAD2 GAD1
6 10.8 TH INS
7
Show member pathways
10.78 TH GAD2 GAD1
8 10.71 GAD2 GAD1
9
Show member pathways
10.64 GLRB GLRA4 GLRA3 GLRA2 GLRA1
10
Show member pathways
10.59 GAD2 GAD1 CSAD
11
Show member pathways
10.55 GAD2 GAD1
12 10.17 GAD2 GAD1 CSAD

GO Terms for Stiff-Person Syndrome

Cellular components related to Stiff-Person Syndrome according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.26 GPHN GLRB GLRA4 GLRA3 GLRA2 GLRA1
2 cell projection GO:0042995 10.04 GPHN GLRB GLRA4 GLRA3 GLRA2 GLRA1
3 neuron projection GO:0043005 9.93 TH GLRB GLRA4 GLRA3 GLRA2 GLRA1
4 dendrite GO:0030425 9.92 TH GPHN GLRB GLRA4 GLRA3 GLRA1
5 neuronal cell body GO:0043025 9.85 TH GLRA1 DPYSL5 CNTNAP2
6 postsynaptic membrane GO:0045211 9.85 GPHN GLRB GLRA4 GLRA3 GLRA2 GLRA1
7 cell junction GO:0030054 9.85 LGI1 GPHN GLRB GLRA4 GLRA3 GLRA2
8 axon GO:0030424 9.84 TH GAD2 GAD1 CNTNAP2
9 perikaryon GO:0043204 9.8 TH GLRA4 GLRA3 GLRA1 CNTNAP2
10 chloride channel complex GO:0034707 9.65 GLRB GLRA4 GLRA3 GLRA2 GLRA1
11 inhibitory synapse GO:0060077 9.61 GLRA1 GAD2 GAD1
12 smooth endoplasmic reticulum GO:0005790 9.56 TH GABARAP
13 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 9.51 GAD2 GAD1
14 glycine-gated chloride channel complex GO:0016935 9.48 GLRB GLRA3
15 synapse GO:0045202 9.36 LGI1 GPHN GLRB GLRA4 GLRA3 GLRA2
16 glycinergic synapse GO:0098690 9.26 GLRB GLRA4 GLRA2 GLRA1

Biological processes related to Stiff-Person Syndrome according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.98 GLRB GLRA4 GLRA3 GLRA2 GLRA1
2 ion transmembrane transport GO:0034220 9.92 GLRB GLRA4 GLRA3 GLRA2 GLRA1
3 regulation of membrane potential GO:0042391 9.85 GLRB GLRA4 GLRA3 GLRA2 GLRA1
4 neuropeptide signaling pathway GO:0007218 9.83 GLRB GLRA4 GLRA3 GLRA2 GLRA1
5 chloride transmembrane transport GO:1902476 9.8 GLRB GLRA4 GLRA3 GLRA2 GLRA1
6 chloride transport GO:0006821 9.77 GLRB GLRA4 GLRA3 GLRA2 GLRA1
7 social behavior GO:0035176 9.72 TH GAD1 CNTNAP2
8 excitatory postsynaptic potential GO:0060079 9.72 GLRB GLRA4 GLRA3 GLRA2 GLRA1
9 carboxylic acid metabolic process GO:0019752 9.67 GAD2 GAD1 CSAD
10 neurotransmitter biosynthetic process GO:0042136 9.65 TH GAD2 GAD1
11 nervous system process GO:0050877 9.65 GLRB GLRA4 GLRA3 GLRA2 GLRA1
12 neuromuscular process GO:0050905 9.61 GLRB GLRA1
13 cellular response to zinc ion GO:0071294 9.61 GLRA2 GLRA1
14 chemical synaptic transmission GO:0007268 9.61 GLRB GLRA4 GLRA3 GLRA2 GLRA1 GAD2
15 response to metal ion GO:0010038 9.6 TH GPHN
16 acrosome reaction GO:0007340 9.59 GLRB GLRA1
17 startle response GO:0001964 9.58 GLRB GLRA1
18 cellular response to ethanol GO:0071361 9.57 GLRA2 GLRA1
19 righting reflex GO:0060013 9.56 GLRB GLRA1
20 response to amino acid GO:0043200 9.55 GLRB GLRA4 GLRA3 GLRA2 GLRA1
21 gamma-aminobutyric acid receptor clustering GO:0097112 9.54 GPHN GLRB
22 glutamate decarboxylation to succinate GO:0006540 9.51 GAD2 GAD1
23 synaptic transmission, glycinergic GO:0060012 9.02 GLRB GLRA4 GLRA3 GLRA2 GLRA1

Molecular functions related to Stiff-Person Syndrome according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.81 GLRB GLRA3 GLRA2 GLRA1
2 ion channel activity GO:0005216 9.77 GLRB GLRA4 GLRA3 GLRA2 GLRA1
3 lyase activity GO:0016829 9.72 GAD2 GAD1 CSAD
4 chloride channel activity GO:0005254 9.72 GLRB GLRA4 GLRA3 GLRA2 GLRA1
5 pyridoxal phosphate binding GO:0030170 9.7 GAD2 GAD1 CSAD
6 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.67 GLRB GLRA2 GLRA1
7 extracellular ligand-gated ion channel activity GO:0005230 9.65 GLRB GLRA4 GLRA3 GLRA2 GLRA1
8 carboxy-lyase activity GO:0016831 9.58 GAD2 GAD1 CSAD
9 glutamate binding GO:0016595 9.54 GAD2 GAD1
10 glycine-gated chloride ion channel activity GO:0022852 9.48 GLRA3 GLRA2
11 extracellularly glycine-gated ion channel activity GO:0016933 9.46 GLRB GLRA1
12 transmitter-gated ion channel activity GO:0022824 9.46 GLRA4 GLRA3 GLRA2 GLRA1
13 glutamate decarboxylase activity GO:0004351 9.43 GAD2 GAD1
14 glycine binding GO:0016594 9.35 GLRB GLRA4 GLRA3 GLRA2 GLRA1
15 extracellularly glycine-gated chloride channel activity GO:0016934 9.02 GLRB GLRA4 GLRA3 GLRA2 GLRA1

Sources for Stiff-Person Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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