MCID: GRS011
MIFTS: 44

Gerstmann-Straussler Disease

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Gerstmann-Straussler Disease

MalaCards integrated aliases for Gerstmann-Straussler Disease:

Name: Gerstmann-Straussler Disease 54 24 71 13
Gerstmann-Straussler-Scheinker Disease 12 50 24 51 71 52 42 69
Gerstmann-Straussler-Scheinker Syndrome 12 50 56 29 14
Subacute Spongiform Encephalopathy, Gerstmann-Straussler Type 50 56
Amyloidosis, Cerebral, with Spongiform Encephalopathy 24 69
Cerebral Amyloid Angiopathy, Prnp-Related 54 29
Prion Dementia 12 71
Cerebellar Ataxia, Progressive Dementia, and Amyloid Deposits in the Central Nervous System 50
Cerebellar Ataxia, Progressive Dementia, and Amyloid Deposits in Cns 71
Encephalopathy Subacute Spongiform Gerstmann-Straussler Type 50
Subacute Spongiform Encephalopathy Gerstmann-Straussler Type 71
Amyloidosis Cerebral with Spongiform Encephalopathy 50
Cerebral Amyloidosis with Spongiform Encephalopathy 71
Gerstmann Straussler Scheinker Syndrome 50
Gluthathione Synthetase Deficiency 69
Gssd 50
Gss 71
Gsd 71

Characteristics:

Orphanet epidemiological data:

56
gerstmann-straussler-scheinker syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
adult onset, usually 30's to 40's, but up to early 60's
rapidly progressive, but slower than creutzfeldt-jakob disease
average disease duration of 7 years
longer disease duration than creutzfeldt-jakob disease


HPO:

32
gerstmann-straussler disease:
Onset and clinical course phenotypic variability rapidly progressive adult onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


Summaries for Gerstmann-Straussler Disease

OMIM : 54
Gerstmann-Straussler disease is a rare inherited prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain (Gerstmann et al., 1936). Gerstmann-Straussler disease typically presents with progressive limb and truncal ataxia, dysarthria, and cognitive decline in the thirties and forties, and the average disease duration is 7 years. GSD can be distinguished from CJD by earlier age at onset, longer disease duration, and prominent cerebellar ataxia (Masters et al., 1981). On the basis of clinical and pathologic criteria, Hsiao et al. (1989) suggested that Gerstmann-Straussler syndrome could be classified into 3 forms: an 'ataxic' form, a 'dementing' form, and a dementing form that is accompanied by pathologic quantities of neurofibrillary tangles (NFTs). However, these distinctions may only underscore the phenotypic variability in presentation and progression of the disease (Panegyres et al., 2001). PRNP-related amyloid angiopathy is usually not a feature of CJD, GSD, or FFI. However, PRNP-immunoreactive amyloid deposits within the walls of cerebral vessels have been observed in patients with truncating mutations in the PRNP gene. Data suggest that C-terminal-truncated PRNP proteins lacking the glycosylphosphatidylinositol (GPI) anchor required to attach the protein to the plasma membrane may readily form amyloid fibrils that result in cerebrovascular amyloid deposition (summary by Revesz et al., 2009). (137440)

MalaCards based summary : Gerstmann-Straussler Disease, also known as gerstmann-straussler-scheinker disease, is related to glutathione synthetase deficiency and glycogen storage disease iv, and has symptoms including myoclonus, dysarthria and tremor. An important gene associated with Gerstmann-Straussler Disease is PRNP (Prion Protein), and among its related pathways/superpathways are Neuroscience and Copper homeostasis. Affiliated tissues include brain, cerebellum and eye.

Disease Ontology : 12 A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain.

NIH Rare Diseases : 50 gerstmann-straussler-scheinker disease (gss) is a type of prion disease. prion diseases are a group of conditions that affect the nervous system. the main feature of gss is a progressive degeneration of the cerebellum (a part of the brain that controls coordination, balance, equilibrium and muscle tone), as well as different degrees of dementia. signs and symptoms generally develop between ages 35 and 50 years and may include weakness in the legs, poor reflexes, abnormal sensations, progressive ataxia, cognitive dysfunction, slurred speech, and spasticity. on average, people affected by gss survive approximately 60 months (range 2 to 10 years) following diagnosis. it is caused by changes (mutations) in the prnp gene and inheritance is autosomal dominant. treatment is based on the signs and symptoms present in each person. for information on other prion diseases, please visit gard's creutzfeldt-jakob disease and fatal familial insomnia pages. last updated: 7/11/2016

NINDS : 51 Gerstmann-Straussler-Scheinker disease (GSS) is an extremely rare, neurodegenerative brain disorder. It is almost always inherited and is found in only a few families around the world. Onset of the disease usually occurs between the ages of 35 and 55. In the early stages, patients may experience varying levels of ataxia (lack of muscle coordination), including clumsiness, unsteadiness, and difficulty walking. As the disease progresses, the ataxia becomes more pronounced and most patients develop dementia. Other symptoms may include dysarthria (slurring of speech), nystagmus (involuntary movements of the eyes), spasticity (rigid muscle tone), and visual disturbances, sometimes leading to blindness. Deafness also can occur. In some families, parkinsonian features are present. GSS belongs to a family of human and animal diseases known as the transmissible spongiform encephalopathies (TSEs). Other TSEs include Creutzfeldt-Jakob disease, kuru, and fatal familial insomnia.

UniProtKB/Swiss-Prot : 71 Gerstmann-Straussler disease: A rare inherited prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. GSD presents with progressive limb and truncal ataxia, dysarthria, and cognitive decline in the thirties and forties, and the average disease duration is 7 years.

Related Diseases for Gerstmann-Straussler Disease

Diseases related to Gerstmann-Straussler Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
id Related Disease Score Top Affiliating Genes
1 glutathione synthetase deficiency 12.1
2 glycogen storage disease iv 12.0
3 glycogen storage disease iiia 11.7
4 prion disease 11.7
5 glycogen storage disease 0, liver 11.6
6 mcardle disease 11.5
7 glycogen storage disease type 0 11.5
8 glycogen storage disease vii 11.5
9 glycogen storage disease, type ixa1 11.4
10 genetic prion diseases 11.4
11 phosphorylase kinase deficiency 11.3
12 muscle glycogenosis 11.1
13 hemolytic anemia 11.1
14 metabolic acidosis 11.1
15 glycogen storage disease 11.1
16 glycogen storage disease ii 11.1
17 glycogen storage disease vi 11.0
18 phosphorylase kinase deficiency of liver and muscle, autosomal recessive 11.0
19 muscular phosphorylase kinase deficiency 11.0
20 granulomatous slack skin disease 11.0
21 cystinosis 11.0
22 hemolytic anemia due to glutathione synthetase deficiency 11.0
23 glycogen storage disease ia 11.0
24 glycogen storage disease xv 10.9
25 glycogen storage disease due to liver phosphorylase kinase deficiency 10.9
26 d-2-hydroxyglutaric aciduria 10.9
27 5-oxoprolinase deficiency 10.9
28 glycogen storage disease ixc 10.9
29 glycogen storage disease xii 10.9
30 glycogen storage disease xi 10.8
31 glycogen storage disease due to acid maltase deficiency, infantile onset 10.8
32 glycogen storage disease due to acid maltase deficiency, late-onset 10.8
33 glycogen storage disease ib 10.8
34 danon disease 10.8
35 fanconi-bickel syndrome 10.8
36 glycogen storage disease due to glycogen branching enzyme deficiency 10.8
37 glycogen storage disease x 10.8
38 glycogen storage disease 0, muscle 10.8
39 glycogen storage disease due to glucose-6-phosphatase deficiency 10.8
40 glycogen storage disease ic 10.7
41 congenital disorder of glycosylation, type it 10.7
42 glycogen storage disease xiii 10.7
43 glycogen storage disease ixa 10.7
44 glycogen storage disease of heart, lethal congenital 10.7
45 phosphoglycerate kinase 1 deficiency 10.6
46 lactate dehydrogenase b deficiency 10.6
47 phosphoglycerate mutase deficiency 10.6
48 phka2-related phosphorylase kinase deficiency 10.6
49 phkb-related phosphorylase kinase deficiency 10.6
50 phkg2-related phosphorylase kinase deficiency 10.6

Graphical network of the top 20 diseases related to Gerstmann-Straussler Disease:



Diseases related to Gerstmann-Straussler Disease

Symptoms & Phenotypes for Gerstmann-Straussler Disease

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
myoclonus
dysarthria
tremor
hyperreflexia
spasticity
more
Head And Neck- Eyes:
impaired smooth pursuit

Growth- Weight:
rapid weight loss late in the disease

Neurologic- Behavioral Psychiatric Manifestations:
personality changes
emotional lability
depression
aggressive behavior
psychosis

Neurologic- Peripheral Nervous System:
loss of deep tendon reflexes
dysesthesias of the lower limbs


Clinical features from OMIM:

137440

Human phenotypes related to Gerstmann-Straussler Disease:

32 (show all 26)
id Description HPO Frequency HPO Source Accession
1 myoclonus 32 HP:0001336
2 dysarthria 32 HP:0001260
3 tremor 32 HP:0001337
4 hyperreflexia 32 HP:0001347
5 spasticity 32 HP:0001257
6 personality changes 32 HP:0000751
7 emotional lability 32 HP:0000712
8 parkinsonism 32 HP:0001300
9 bradykinesia 32 HP:0002067
10 rigidity 32 HP:0002063
11 depression 32 HP:0000716
12 areflexia 32 HP:0001284
13 aggressive behavior 32 HP:0000718
14 gait ataxia 32 HP:0002066
15 truncal ataxia 32 HP:0002078
16 limb ataxia 32 HP:0002070
17 cerebellar atrophy 32 HP:0001272
18 psychosis 32 HP:0000709
19 memory impairment 32 HP:0002354
20 dementia 32 HP:0000726
21 neurofibrillary tangles 32 HP:0002185
22 impaired smooth pursuit 32 HP:0007772
23 weight loss 32 HP:0001824
24 apraxia 32 HP:0002186
25 lower limb muscle weakness 32 HP:0007340
26 perseveration 32 HP:0030223

UMLS symptoms related to Gerstmann-Straussler Disease:


cerebellar ataxia, muscle rigidity, muscle spasticity, myoclonus, tremor, bradykinesia, personality changes, ataxia, truncal, memory loss, gait ataxia, lower limb muscle weakness

Drugs & Therapeutics for Gerstmann-Straussler Disease

Search Clinical Trials , NIH Clinical Center for Gerstmann-Straussler Disease

Cochrane evidence based reviews: gerstmann-straussler-scheinker disease

Genetic Tests for Gerstmann-Straussler Disease

Genetic tests related to Gerstmann-Straussler Disease:

id Genetic test Affiliating Genes
1 Gerstmann-Straussler-Scheinker Syndrome 29
2 Cerebral Amyloid Angiopathy, Prnp-Related 29
3 Gerstmann-Straussler-Scheinker Disease 24 PRNP

Anatomical Context for Gerstmann-Straussler Disease

MalaCards organs/tissues related to Gerstmann-Straussler Disease:

39
Brain, Cerebellum, Eye

Publications for Gerstmann-Straussler Disease

Variations for Gerstmann-Straussler Disease

UniProtKB/Swiss-Prot genetic disease variations for Gerstmann-Straussler Disease:

71
id Symbol AA change Variation ID SNP ID
1 PRNP p.Pro102Leu VAR_006464 rs74315401
2 PRNP p.Pro105Leu VAR_006465 rs11538758
3 PRNP p.Phe198Ser VAR_006472 rs74315405
4 PRNP p.Gln217Arg VAR_006476 rs74315406
5 PRNP p.His187Arg VAR_008746 rs74315413
6 PRNP p.Asp202Asn VAR_008750 rs761807915
7 PRNP p.Gln212Pro VAR_008753 rs751882709
8 PRNP p.Gly131Val VAR_014264 rs74315410

ClinVar genetic disease variations for Gerstmann-Straussler Disease:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1 PRNP NM_000311.4(PRNP) NT expansion Pathogenic rs193922906 GRCh37 Chromosome 20, 4680026: 4680049
2 PRNP NM_000311.4(PRNP): c.305C> T (p.Pro102Leu) single nucleotide variant Pathogenic rs74315401 GRCh37 Chromosome 20, 4680171: 4680171
3 PRNP NM_000311.4(PRNP): c.350C> T (p.Ala117Val) single nucleotide variant Pathogenic rs74315402 GRCh37 Chromosome 20, 4680216: 4680216
4 PRNP NM_000311.4(PRNP): c.593T> C (p.Phe198Ser) single nucleotide variant Pathogenic rs74315405 GRCh37 Chromosome 20, 4680459: 4680459
5 PRNP NM_000311.4(PRNP): c.650A> G (p.Gln217Arg) single nucleotide variant Pathogenic rs74315406 GRCh37 Chromosome 20, 4680516: 4680516
6 PRNP NM_000311.4(PRNP): c.314C> T (p.Pro105Leu) single nucleotide variant Pathogenic rs11538758 GRCh37 Chromosome 20, 4680180: 4680180
7 PRNP NM_000311.4(PRNP): c.392G> T (p.Gly131Val) single nucleotide variant Pathogenic rs74315410 GRCh37 Chromosome 20, 4680258: 4680258
8 PRNP NM_000311.4(PRNP): c.560A> G (p.His187Arg) single nucleotide variant Pathogenic rs74315413 GRCh37 Chromosome 20, 4680426: 4680426
9 PRNP NM_000311.4(PRNP): c.398C> T (p.Ala133Val) single nucleotide variant Pathogenic rs74315415 GRCh37 Chromosome 20, 4680264: 4680264
10 PRNP NM_000311.4(PRNP): c.313C> T (p.Pro105Ser) single nucleotide variant Pathogenic rs74315414 GRCh37 Chromosome 20, 4680179: 4680179
11 PRNP NM_000311.4(PRNP): c.435T> G (p.Tyr145Ter) single nucleotide variant Pathogenic rs80356710 GRCh37 Chromosome 20, 4680301: 4680301
12 PRNP NM_000311.4(PRNP): c.478C> T (p.Gln160Ter) single nucleotide variant Pathogenic rs80356711 GRCh37 Chromosome 20, 4680344: 4680344
13 PRNP NM_000311.4(PRNP): c.633G> C (p.Glu211Asp) single nucleotide variant Pathogenic rs398122413 GRCh37 Chromosome 20, 4680499: 4680499
14 PRNP NM_000311.4(PRNP): c.678C> A (p.Tyr226Ter) single nucleotide variant Pathogenic rs398122414 GRCh37 Chromosome 20, 4680544: 4680544
15 PRNP NM_000311.4(PRNP): c.679C> T (p.Gln227Ter) single nucleotide variant Pathogenic rs17852079 GRCh37 Chromosome 20, 4680545: 4680545
16 PRNP PRNP, TYR163TER undetermined variant Pathogenic

Expression for Gerstmann-Straussler Disease

Search GEO for disease gene expression data for Gerstmann-Straussler Disease.

Pathways for Gerstmann-Straussler Disease

Pathways related to Gerstmann-Straussler Disease according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.64 APP PRNP THY1
2 10.89 APP PRNP
3 10.04 APP PRNP

GO Terms for Gerstmann-Straussler Disease

Cellular components related to Gerstmann-Straussler Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.63 APP C3 PRNP THY1 VDAC1 YWHAB
2 anchored component of external side of plasma membrane GO:0031362 8.96 PRNP THY1
3 membrane raft GO:0045121 8.92 APP PRNP THY1 VDAC1

Biological processes related to Gerstmann-Straussler Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 learning or memory GO:0007611 9.32 APP PRNP
2 negative regulation of T cell receptor signaling pathway GO:0050860 9.26 PRNP THY1
3 learning GO:0007612 9.07 VDAC1
4 cellular copper ion homeostasis GO:0006878 8.96 APP PRNP
5 cellular response to beta-amyloid GO:1904646 8.85 APP
6 modulation of age-related behavioral decline GO:0090647 8.32 APP

Molecular functions related to Gerstmann-Straussler Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.13 APP THY1 YWHAB
2 protein complex binding GO:0032403 8.62 VDAC1 YWHAB

Sources for Gerstmann-Straussler Disease

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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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