SPS
MCID: STF001
MIFTS: 55

Stiff-Person Syndrome (SPS) malady

Neuronal, Endocrine categories

Summaries for Stiff-Person Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 64Wikipedia, 47OMIM, 33MalaCards
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NINDS:44 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.

MalaCards: Stiff-Person Syndrome, also known as stiff person syndrome, is related to celiac disease and thyroiditis. An important gene associated with Stiff-Person Syndrome is GLRA1 (glycine receptor, alpha 1), and among its related pathways are GABA A receptor activation and GABA synthesis. The compounds bilobalide and ginkgolide x have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, brain and cortex, and related mouse phenotypes are endocrine/exocrine gland and nervous system.

Disease Ontology:8 A movement disease that is of unknown etiology characterized by progressive rigidity.

NIH Rare Diseases:43 Stiff person syndrome is a rare neurological disorder with features of an autoimmune disease. it affects twice as many women as men. it is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia.  symptoms may include muscle stiffness in the trunk and limbs, heightened sensitivity to noise and touch, and emotional distress which can set off muscle spasms and cause falls. treatment may involve high-dose diazepam, anti-convulsants, or intravenous immunoglobulin. last updated: 3/15/2011

Wikipedia:64 Stiff person syndrome (SPS) is a rare neurologic disorder of unclear etiology characterized by... more...

Description from OMIM:47 184850

Aliases & Classifications for Stiff-Person Syndrome

Sources:
8Disease Ontology, 44NINDS, 10DISEASES, 61UMLS, 43NIH Rare Diseases, 49Orphanet, 45Novoseek, 47OMIM, 40NCIt, 57SNOMED-CT, 35MeSH, 27ICD9CM, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Endocrine


Characteristics (Orphanet epidemiological data):

49
stiff person syndrome:
Prevalence: 1-9/1000000; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

stiff-person syndrome 8 44 10 61
stiff person syndrome 43 49 47
stiff man syndrome 8 43 49
stiff-man syndrome 8 45
sps 43 49
moersch-woltman syndrome 49
morsch woltman syndrome 43


External Ids:

Disease Ontology8 DOID:13366
NCIt40 C85170
MeSH35 D016750
ICD9CM27 333.91
SNOMED-CT57 5217008
OMIM47 184850
ICD10 via Orphanet26 G25.8
SNOMED-CT via Orphanet58 5217008

Related Diseases for Stiff-Person Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to stiff-person syndrome

Clinical Features for Stiff-Person Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

184850

Clinical synopsis from OMIM:

184850

Drugs & Therapeutics for Stiff-Person Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Stiff-Person Syndrome

Drug clinical trials:

Search ClinicalTrials for Stiff-Person Syndrome

Search NIH Clinical Center for Stiff-Person Syndrome

Search CenterWatch for Stiff-Person Syndrome

Genetic Tests for Stiff-Person Syndrome

Anatomical Context for Stiff-Person Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Stiff-Person Syndrome:

33
Bone marrow, Brain, Cortex, Spinal cord, Colon, Lung, Thyroid, Breast, T cells, B cells

Animal Models for Stiff-Person Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Stiff-Person Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.5AMPH, GAD2, GAD1, INS, TH, GLRB
2MP:00036317.1INS, GLRA1, GLRB, DPYSL5, GAD1, GAD2
3MP:00053866.5TH, AMPH, GAD2, GAD1, DPYSL5, GLRB

Publications for Stiff-Person Syndrome

Sources:
51PubMed
See all sources

Articles related to Stiff-Person Syndrome:

(show top 50)    (show all 202)
idTitleAuthorsYear
1
A case of childhood stiff-person syndrome with striatal lesions: a possible entity distinct from the classical adult form. (22944247)
2013
2
Extremely rare coincidence of non-radiographic axial spondyloarthropathy HLA-B27 positive and Stiff Person Syndrome - rheumatologist point of view. (24289195)
2013
3
Serotonin Syndrome and Stiff-Person Syndrome: Diagnostic Challenges in Psychosomatic Medicine. (24360526)
2013
4
Cannabis derivatives therapy for a seronegative stiff-person syndrome: a case report. (22726074)
2013
5
Successful treatment of stiff person syndrome with sequential use of tacrolimus. (23715915)
2013
6
Paraneoplastic stiff person syndrome associated with colon cancer misdiagnosed as idiopathic Parkinson's disease worsened after capecitabine therapy. (24028681)
2013
7
Anti-GAD positive stiff-person syndrome and cerebellar ataxia: two treatable conditions that clinicians should be aware of. (22990718)
2012
8
Stiff person syndrome (SPS) complicated by respiratory failure: successful treatment with rituximab. (21647727)
2012
9
Autoimmune stiff person syndrome and related myelopathies: understanding of electrophysiological and immunological processes. (22499087)
2012
10
Electrophysiological characteristics in four patients from Brazil with stiff person syndrome. (22386477)
2012
11
Lymphoma, thymoma and the wooden man: stiff-person syndrome post-thymoma excision and non-Hodgkin lymphoma remission. (22356495)
2012
12
Lower extremity predominant stiff-person syndrome and limbic encephalitis with amphiphysin antibodies in breast cancer. (23172386)
2012
13
Physical therapist management of stiff person syndrome in a 24-year-old woman. (21737522)
2011
14
Stiff person syndrome. (21921002)
2011
15
Stiff-person syndrome presenting as eating disorder: a case report. (20186723)
2011
16
The immunological basis for treatment of stiff person syndrome. (20943276)
2011
17
Long-lived plasma cells and memory B cells produce pathogenic anti-GAD65 autoantibodies in Stiff Person Syndrome. (20520773)
2010
18
Qualitative and quantitative evidence of anti-glutamic acid decarboxylase-specific intrathecal antibody synthesis in patients with stiff person syndrome. (20813415)
2010
19
Finding our way: diagnostic perils and the stiff person syndrome. (19791526)
2009
20
Insulin treatment in a patient with Type 2 diabetes and Stiff-person syndrome. (19125773)
2009
21
Stiff-person syndrome with amphiphysin antibodies: distinctive features of a rare disease. (18971449)
2008
22
GAD65 IgG autoantibodies in stiff person syndrome: clonality, avidity and persistence. (18637036)
2008
23
Successful intrathecal baclofen therapy for seronegative stiff-person syndrome: a case report. (18975523)
2008
24
11C-flumazenil positron emission tomography demonstrates reduction of both global and local cerebral benzodiazepine receptor binding in a patient with Stiff Person Syndrome. (18574617)
2008
25
Propofol for stiff-person syndrome: learning new tricks from an old dog. (18443308)
2008
26
Stiff-person syndrome. (17445501)
2007
27
Scleritis in a person with stiff-person syndrome. (17365806)
2007
28
Considerations for general anesthesia combined with epidural anesthesia in a patient with stiff-person syndrome. (18008116)
2007
29
Acute ataxia, Graves' disease, and stiff person syndrome. (17712846)
2007
30
Physical therapy during in-patient rehabilitation for a patient with Stiff-Person Syndrome. (16630369)
2006
31
Anaesthesia for stiff person syndrome: successful use of total intravenous anaesthesia. (16792638)
2006
32
Sudden spasms following gradual lordosis--the stiff-person syndrome. (16932604)
2006
33
The role of IVIg in the treatment of patients with stiff person syndrome and other neurological diseases associated with anti-GAD antibodies. (15959668)
2005
34
Stiff person syndrome with eye movement abnormality, myasthenia gravis, and thymoma. (15608018)
2005
35
Analysis of GAD65 autoantibodies in Stiff-Person syndrome patients. (16301686)
2005
36
Stiff-person syndrome. (15140273)
2004
37
Isaacs' syndrome, stiff person syndrome and Satoyoshi disease: pathomechanisms and treatment]. (15651297)
2004
38
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. (15571623)
2004
39
Paraneoplastic "stiff person syndrome" with metastatic adenocarcinoma and anti-Ri antibodies. (15111682)
2004
40
Neuropathology and binding studies in anti-amphiphysin-associated stiff-person syndrome. (12874398)
2003
41
Intrathecal baclofen for stiff-person syndrome: life-threatening intermittent catheter leakage. (12821743)
2003
42
Anaesthesia for Stiff-Person Syndrome. (11892649)
2002
43
Increased brainstem excitability in stiff-person syndrome. (12177385)
2002
44
Improvement of stiff-person syndrome with tiagabine. (11468338)
2001
45
Stiff-person syndrome associated with invasive thymoma: a case report. (11718752)
2001
46
A patient with atypical stiff-person syndrome: an electrophysiological study. (19078649)
2001
47
The clinical spectrum of anti-GAD antibody-positive patients with stiff-person syndrome. (11094109)
2000
48
Subacute encephalomyelitis presenting as stiff-person syndrome: clinical, polygraphic, and pathologic correlations. (8914097)
1996
49
Anesthetic implications in stiff-person syndrome. (7864435)
1995
50
Stiff-person syndrome. (1393849)
1992

Genetic Variations for Stiff-Person Syndrome

Expression for genes affiliated with Stiff-Person Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Stiff-Person Syndrome

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

Pathways for genes affiliated with Stiff-Person Syndrome

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore
See all sources

Compounds for genes affiliated with Stiff-Person Syndrome

Sources:
29IUPHAR, 45Novoseek, 11DrugBank, 2BitterDB, 60Tocris Bioscience, 24HMDB, 50PharmGKB
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Compounds related to Stiff-Person Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1bilobalide2910.4GLRB, GLRA1
2ginkgolide x2910.4GLRB, GLRA1
3cyanotriphenylborate2910.4GLRA1, GLRB
4picrotin2910.4GLRB, GLRA1
5pregnenolone sulphate2910.4GLRA1, GLRB
6tropisetron29 4511.3GLRB, GLRA1
7lindane45 1111.3GLRA1, GLRB
8ibotenic acid4510.3TH, GAD1
9succinic semialdehyde4510.3GAD1, ABAT
10picrotoxinin45 2 2912.3GLRA1, GLRB
11d amphetamine4510.2TSPO, TH
12ginkgolide b45 60 2912.2TSPO, GLRA1, GLRB
13picrotoxin45 29 1112.2GLRA1, GLRB, TSPO
14l-alanine29 60 11 2413.1GLRA1, ABAT, GLRB
15eszopiclone45 1111.1TSPO, INS
16zn2+2910.1GLRB, GLRA1
17baclofen45 1111.1GAD1, ABAT, TSPO
18muscimol45 60 2912.1GAD1, ABAT, TSPO
19gamma-hydroxybutyrate4510.1TSPO, ABAT
20pyridoxal 5-phosphate4510.1GAD1, GAD2, ABAT
21famotidine45 2 11 2413.0ABAT, GAD2, GAD1
22valproate4510.0GAD1, ABAT, TH
23tetrodotoxin45 60 2912.0TH, GAD2, GAD1
24strychnine45 2 2912.0GLRA1, GPHN
25pyridoxal45 11 2412.0GAD2, GAD1
26l-glutamic acid29 11 2412.0GAD2, ABAT, GAD1
27c-peptide4510.0INS, GAD2, GAD1
282-deoxyglucose45 1111.0GAD1, INS, TSPO
29cysteine sulfinic acid4510.0GAD2, GAD1, CSAD
303-Sulfinoalanine11 2411.0GAD2, CSAD, GAD1
31haloperidol45 29 2 50 1113.9TH, GAD1, TSPO
32valproic acid45 50 11 2412.9TSPO, ABAT, GAD1
33diazepam45 50 29 1112.9ABAT, TSPO, GABARAP
34ornithine45 2410.9GAD1, GAD2, ABAT
35mptp459.9GAD2, GAD1, TSPO, TH
36kainate45 2910.8GAD1, TH, GAD2, TSPO
37pterin45 2410.8GPHN, TH
38carbon dioxide45 2410.8GAD1, GAD2, CSAD
39beta-alanine45 60 11 2412.7GAD1, GLRB, GLRA1, GAD2, ABAT
40Pyridoxal Phosphate119.7GAD1, ABAT, GAD2, CSAD
41levodopa45 1110.6GAD1, ABAT, GAD2, TSPO, TH
42hypotaurine60 45 2411.5CSAD, GAD2, GLRB, GAD1, GLRA1
43dopamine45 29 11 2412.5TH, TSPO, ABAT, GAD1, GAD2
44cocaine45 1110.3TH, TSPO, ABAT
45nmda45 2910.3GLRB, GAD1, TSPO, TH, GPHN, GAD2
46taurine45 60 2411.2GLRA1, CSAD, GAD2, ABAT, GAD1, GLRB
47acetylcholine45 50 29 11 2413.2GAD1, AMPH, TSPO, TH, GAD2
48alanine459.0INS, GAD1, GAD2, TH, ABAT
49gaba458.8GABARAP, GPHN, ABAT, TH, TSPO, GAD1
50glutamate457.6TSPO, TH, AMPH, CSAD, GAD2, GAD1

GO Terms for genes affiliated with Stiff-Person Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Stiff-Person Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1smooth endoplasmic reticulumGO:0057909.8GABARAP, TH
2clathrin-sculpted gamma-aminobutyric acid transport vesicle membraneGO:0612029.7GAD1, GAD2
3postsynaptic membraneGO:0452118.7GLRB, GPHN, HOMER3, GLRA1
4cell junctionGO:0300548.0AMPH, GAD2, GLRB, GLRA1, HOMER3, GPHN

Biological processes related to Stiff-Person Syndrome according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1synaptic transmission, glycinergicGO:06001210.1GLRB, GLRA1
2glutamate decarboxylation to succinateGO:00654010.1GAD2, GAD1
3righting reflexGO:06001310.0GLRA1, GLRB
4acrosome reactionGO:00734010.0GLRB, GLRA1
5startle responseGO:0019649.9GLRA1, GLRB
6neurotransmitter biosynthetic processGO:0421369.9GAD1, TH, GAD2
7neurotransmitter secretionGO:0072699.7ABAT, GAD1, GAD2
8response to drugGO:0424939.1TSPO, ABAT, GAD1, GAD2
9synaptic transmissionGO:0072688.6AMPH, ABAT, GLRB, GABARAP, GAD1, GAD2

Molecular functions related to Stiff-Person Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycine bindingGO:01659410.0GLRA1, GLRB
2glutamate decarboxylase activityGO:00435110.0GAD1, GAD2
3extracellular-glycine-gated chloride channel activityGO:0169349.9GLRB, GLRA1
4glutamate bindingGO:0165959.7GAD1, GAD2
5pyridoxal phosphate bindingGO:0301709.3ABAT, GAD1, GAD2, CSAD

Products for genes affiliated with Stiff-Person Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Stiff-Person Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet