Gerstmann-Straussler Disease

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

Aliases & Classifications for Gerstmann-Straussler Disease

MalaCards integrated aliases for Gerstmann-Straussler Disease:

Name: Gerstmann-Straussler Disease 53 71 13
Gerstmann-Straussler-Scheinker Disease 53 12 49 50 71 51 41 69
Gerstmann-Straussler-Scheinker Syndrome 12 49 55 28 14
Prion Dementia 53 12 71
Cerebellar Ataxia, Progressive Dementia, and Amyloid Deposits in Cns 53 71
Subacute Spongiform Encephalopathy, Gerstmann-Straussler Type 49 55
Amyloidosis, Cerebral, with Spongiform Encephalopathy 53 69
Cerebral Amyloid Angiopathy, Prnp-Related 53 28
Gsd 53 71
Gss 53 71
Cerebellar Ataxia, Progressive Dementia, and Amyloid Deposits in the Central Nervous System 49
Encephalopathy, Subacute Spongiform, Gerstmann-Straussler Type 53
Encephalopathy Subacute Spongiform Gerstmann-Straussler Type 49
Subacute Spongiform Encephalopathy Gerstmann-Straussler Type 71
Amyloidosis Cerebral with Spongiform Encephalopathy 49
Cerebral Amyloidosis with Spongiform Encephalopathy 71
Gerstmann-Straussler-Scheinker Disease; Gss 53
Gerstmann Straussler Scheinker Syndrome 49
Gluthathione Synthetase Deficiency 69
Gssd 49


Orphanet epidemiological data:

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


autosomal dominant

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


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


Orphanet: 55  
Rare neurological diseases

Summaries for Gerstmann-Straussler Disease

OMIM : 53 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 prion disease and glutathione synthetase deficiency, and has symptoms including myoclonus, tremor and bradykinesia. 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.

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.

NIH Rare Diseases : 49 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 : 50 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.

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.

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 69)
# Related Disease Score Top Affiliating Genes
1 prion disease 32.1 APP MSMB PRNP
2 glutathione synthetase deficiency 12.2
3 glycogen storage disease iv 12.1
4 glycogen storage disease iii 11.8
5 glycogen storage disease, type ixd 11.7
6 glycogen storage disease 0, liver 11.7
7 glycogen storage disease vi 11.7
8 glycogen storage disease v 11.6
9 glycogen storage disease ixa1 11.6
10 glycogen storage disease ia 11.6
11 glycogen storage disease vii 11.6
12 glycogen storage disease type 0 11.6
13 genetic prion diseases 11.6
14 glycogen storage disease xii 11.5
15 glycogen storage disease ib 11.5
16 glycogen storage disease ic 11.5
17 phosphorylase kinase deficiency 11.4
18 hemolytic anemia 11.2
19 glycogen storage disease ii 11.2
20 glycogen storage disease ixb 11.2
21 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to 11.2
22 metabolic acidosis 11.2
23 glycogen storage disease 11.2
24 fanconi-bickel syndrome 11.1
25 cystinosis 11.1
26 granulomatous slack skin disease 11.1
27 muscular phosphorylase kinase deficiency 11.1
28 glycogen storage disease xv 11.1
29 glycogen storage disease due to liver phosphorylase kinase deficiency 11.1
30 glycogen storage disease x 11.0
31 glycogen storage disease ixc 11.0
32 danon disease 11.0
33 glycogen storage disease 0, muscle 11.0
34 glycogen storage disease xiii 11.0
35 glycogen storage disease due to glycogen branching enzyme deficiency 11.0
36 glycogen storage disease due to glucose-6-phosphatase deficiency 11.0
37 glycogen storage disease due to acid maltase deficiency, infantile onset 11.0
38 glycogen storage disease due to acid maltase deficiency, late-onset 11.0
39 glycogen storage disease viii 10.9
40 cystic angiomatosis of bone, diffuse 10.9
41 glycogen storage disease of heart, lethal congenital 10.9
42 congenital disorder of glycosylation, type it 10.9
43 glycogen storage disease ixa 10.9
44 phosphoglycerate kinase 1 deficiency 10.7
45 lactate dehydrogenase b deficiency 10.7
46 phosphoglycerate mutase deficiency 10.7
47 glycogen storage disease due to lactate dehydrogenase deficiency 10.7
48 ataxia and polyneuropathy, adult-onset 10.3
49 aceruloplasminemia 10.3
50 ataxia-oculomotor apraxia 3 10.3

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:

Neurologic Central Nervous System:
memory loss
cerebellar ataxia
Head And Neck Eyes:
impaired smooth pursuit

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

Neurologic Behavioral Psychiatric Manifestations:
personality changes
emotional lability
aggressive behavior

Growth Weight:
rapid weight loss late in the disease

Clinical features from OMIM:


Human phenotypes related to Gerstmann-Straussler Disease:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 myoclonus 31 HP:0001336
2 tremor 31 HP:0001337
3 bradykinesia 31 HP:0002067
4 personality changes 31 HP:0000751
5 gait ataxia 31 HP:0002066
6 lower limb muscle weakness 31 HP:0007340
7 emotional lability 31 HP:0000712
8 spasticity 31 HP:0001257
9 dysarthria 31 HP:0001260
10 hyperreflexia 31 HP:0001347
11 weight loss 31 HP:0001824
12 limb ataxia 31 HP:0002070
13 memory impairment 31 HP:0002354
14 rigidity 31 HP:0002063
15 psychosis 31 HP:0000709
16 apraxia 31 HP:0002186
17 dementia 31 HP:0000726
18 areflexia 31 HP:0001284
19 aggressive behavior 31 HP:0000718
20 cerebellar atrophy 31 HP:0001272
21 parkinsonism 31 HP:0001300
22 neurofibrillary tangles 31 HP:0002185
23 perseveration 31 HP:0030223
24 truncal ataxia 31 HP:0002078
25 impaired smooth pursuit 31 HP:0007772
26 depressivity 31 HP:0000716

UMLS symptoms related to Gerstmann-Straussler Disease:

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

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:

# Genetic test Affiliating Genes
1 Gerstmann-Straussler-Scheinker Syndrome 28 PRNP
2 Cerebral Amyloid Angiopathy, Prnp-Related 28

Anatomical Context for Gerstmann-Straussler Disease

MalaCards organs/tissues related to Gerstmann-Straussler Disease:

Brain, Cerebellum, Eye

Publications for Gerstmann-Straussler Disease

Articles related to Gerstmann-Straussler Disease:

(show all 18)
# Title Authors Year
Gerstmann-Straussler-Scheinker disease with PRNP P102L heterozygous mutation presenting as progressive myoclonus epilepsy. ( 29148226 )
Gerstmann-Straussler-Scheinker disease and "anchorless Prion Protein" mice share prion conformational properties diverging from sporadic Creutzfeldt-Jakob disease. ( 24398683 )
Gerstmann-Straussler-Scheinker disease due to a novel prion protein gene mutation. ( 21282596 )
Atypical frontotemporal dementia as a new clinical phenotype of Gerstmann-Straussler-Scheinker disease with the PrP-P102L mutation. Description of a previously unreported Italian family. ( 19030774 )
Early abnormality of diffusion-weighted magnetic resonance imaging followed by brain atrophy in a case of Gerstmann-Straussler-Scheinker disease. ( 17353395 )
A prion disease--possible Gerstmann-Straussler-Scheinker disease: a case report. ( 16365589 )
Structural properties of Gerstmann-Straussler-Scheinker disease amyloid protein. ( 12970341 )
Cell surface accumulation of a truncated transmembrane prion protein in Gerstmann-Straussler-Scheinker disease P102L. ( 11967261 )
A new PRNP mutation (G131V) associated with Gerstmann-Straussler- Scheinker disease. ( 11709001 )
Proton magnetic resonance spectroscopy of a patient with Gerstmann-Straussler-Scheinker disease. ( 11071439 )
Phenotypic variability of Gerstmann-Straussler-Scheinker disease is associated with prion protein heterogeneity. ( 9786248 )
Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann- Straussler-Scheinker disease (PrP-P102L mutation). ( 8797472 )
Gerstmann-Straussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients. ( 7783876 )
A variant of Gerstmann-Straussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: a clinicopathological study. ( 7699395 )
A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Straussler-Scheinker disease. ( 7902972 )
Mutant prion proteins in Gerstmann-Straussler-Scheinker disease with neurofibrillary tangles. ( 1363810 )
Amyloid protein of Gerstmann-Straussler-Scheinker disease (Indiana kindred) is an 11 kd fragment of prion protein with an N-terminal glycine at codon 58. ( 1672107 )
The presence of complements in amyloid plaques of Creutzfeldt-Jakob disease and Gerstmann-Straussler-Scheinker disease. ( 6400466 )

Variations for Gerstmann-Straussler Disease

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

# 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)
# 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:

# Super pathways Score Top Affiliating Genes
1 11.86 APP PRNP THY1
2 10.69 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 learning GO:0007612 9.43 APP VDAC1
2 learning or memory GO:0007611 9.4 APP PRNP
3 cellular response to amyloid-beta GO:1904646 9.37 APP PRNP
4 negative regulation of T cell receptor signaling pathway GO:0050860 9.32 PRNP THY1
5 cellular copper ion homeostasis GO:0006878 9.26 APP PRNP
6 negative regulation of long-term synaptic potentiation GO:1900272 9.16 APP PRNP
7 modulation of age-related behavioral decline GO:0090647 8.96 APP PRNP
8 neuron projection maintenance GO:1990535 8.62 APP PRNP

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.46 APP PRNP VDAC1 YWHAB
2 enzyme binding GO:0019899 9.13 APP THY1 YWHAB
3 protein complex binding GO:0032403 8.8 PRNP VDAC1 YWHAB

Sources for Gerstmann-Straussler Disease

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
51 Novoseek
54 OMIM via Orphanet
58 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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