MCID: GRS011
MIFTS: 48

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 57 75 13 40
Gerstmann-Straussler-Scheinker Disease 57 12 53 54 75 55 44 73
Gerstmann-Straussler-Scheinker Syndrome 12 53 59 29 6 15
Cerebral Amyloid Angiopathy, Prnp-Related 57 29 6
Prion Dementia 57 12 75
Cerebellar Ataxia, Progressive Dementia, and Amyloid Deposits in Cns 57 75
Subacute Spongiform Encephalopathy, Gerstmann-Straussler Type 53 59
Amyloidosis, Cerebral, with Spongiform Encephalopathy 57 73
Gsd 57 75
Gss 57 75
Cerebellar Ataxia, Progressive Dementia, and Amyloid Deposits in the Central Nervous System 53
Encephalopathy, Subacute Spongiform, Gerstmann-Straussler Type 57
Encephalopathy Subacute Spongiform Gerstmann-Straussler Type 53
Subacute Spongiform Encephalopathy Gerstmann-Straussler Type 75
Amyloidosis Cerebral with Spongiform Encephalopathy 53
Cerebral Amyloidosis with Spongiform Encephalopathy 75
Gerstmann-Straussler-Scheinker Disease; Gss 57
Gerstmann Straussler Scheinker Syndrome 53
Gluthathione Synthetase Deficiency 73
Gssd 53

Characteristics:

Orphanet epidemiological data:

59
gerstmann-straussler-scheinker syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult;

OMIM:

57
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 adult onset rapidly progressive phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Gerstmann-Straussler Disease

OMIM : 57 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 cerebellar ataxia, muscle rigidity and muscle spasticity. 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, and related phenotypes are emotional lability and depressivity

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 : 53 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.

NINDS : 54 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 : 75 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.

Wikipedia : 76 Gerstmann–Sträussler–Scheinker syndrome (GSS) is a very rare, usually familial, fatal neurodegenerative... more...

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 70)
# Related Disease Score Top Affiliating Genes
1 prion disease 32.0 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 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to 11.3
19 hemolytic anemia 11.3
20 glycogen storage disease ii 11.2
21 glycogen storage disease ixb 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 5-oxoprolinase deficiency 11.0
31 d-2-hydroxyglutaric aciduria 1 11.0
32 glycogen storage disease x 11.0
33 glycogen storage disease ixc 11.0
34 danon disease 10.9
35 glycogen storage disease 0, muscle 10.9
36 glycogen storage disease xiii 10.9
37 glycogen storage disease due to glycogen branching enzyme deficiency 10.9
38 glycogen storage disease due to glucose-6-phosphatase deficiency 10.9
39 glycogen storage disease due to acid maltase deficiency, infantile onset 10.9
40 glycogen storage disease due to acid maltase deficiency, late-onset 10.9
41 glycogen storage disease viii 10.9
42 cystic angiomatosis of bone, diffuse 10.9
43 glycogen storage disease of heart, lethal congenital 10.9
44 congenital disorder of glycosylation, type it 10.9
45 glycogen storage disease ixa 10.9
46 phosphoglycerate kinase 1 deficiency 10.7
47 lactate dehydrogenase b deficiency 10.7
48 phosphoglycerate mutase deficiency 10.7
49 glycogen storage disease due to lactate dehydrogenase deficiency 10.7
50 aceruloplasminemia 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:

57
Neurologic Behavioral Psychiatric Manifestations:
emotional lability
psychosis
aggressive behavior
personality changes
depression

Head And Neck Eyes:
impaired smooth pursuit

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

Neurologic Central Nervous System:
spasticity
dysarthria
tremor
hyperreflexia
myoclonus
more
Growth Weight:
rapid weight loss late in the disease


Clinical features from OMIM:

137440

Human phenotypes related to Gerstmann-Straussler Disease:

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

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 29 PRNP
2 Cerebral Amyloid Angiopathy, Prnp-Related 29

Anatomical Context for Gerstmann-Straussler Disease

MalaCards organs/tissues related to Gerstmann-Straussler Disease:

41
Brain, Cerebellum, Eye

Publications for Gerstmann-Straussler Disease

Articles related to Gerstmann-Straussler Disease:

(show all 18)
# Title Authors Year
1
Gerstmann-Straussler-Scheinker disease with PRNP P102L heterozygous mutation presenting as progressive myoclonus epilepsy. ( 29148226 )
2017
2
Gerstmann-Straussler-Scheinker disease and "anchorless Prion Protein" mice share prion conformational properties diverging from sporadic Creutzfeldt-Jakob disease. ( 24398683 )
2014
3
Gerstmann-Straussler-Scheinker disease due to a novel prion protein gene mutation. ( 21282596 )
2011
4
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 )
2008
5
Early abnormality of diffusion-weighted magnetic resonance imaging followed by brain atrophy in a case of Gerstmann-Straussler-Scheinker disease. ( 17353395 )
2007
6
A prion disease--possible Gerstmann-Straussler-Scheinker disease: a case report. ( 16365589 )
2006
7
Structural properties of Gerstmann-Straussler-Scheinker disease amyloid protein. ( 12970341 )
2003
8
Cell surface accumulation of a truncated transmembrane prion protein in Gerstmann-Straussler-Scheinker disease P102L. ( 11967261 )
2002
9
A new PRNP mutation (G131V) associated with Gerstmann-Straussler- Scheinker disease. ( 11709001 )
2001
10
Proton magnetic resonance spectroscopy of a patient with Gerstmann-Straussler-Scheinker disease. ( 11071439 )
2000
11
Phenotypic variability of Gerstmann-Straussler-Scheinker disease is associated with prion protein heterogeneity. ( 9786248 )
1998
12
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 )
1996
13
Gerstmann-Straussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients. ( 7783876 )
1995
14
A variant of Gerstmann-Straussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: a clinicopathological study. ( 7699395 )
1994
15
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 )
1993
16
Mutant prion proteins in Gerstmann-Straussler-Scheinker disease with neurofibrillary tangles. ( 1363810 )
1992
17
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 )
1991
18
The presence of complements in amyloid plaques of Creutzfeldt-Jakob disease and Gerstmann-Straussler-Scheinker disease. ( 6400466 )
1984

Variations for Gerstmann-Straussler Disease

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

75
# 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 31)
# 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) NT expansion Pathogenic rs193922906 GRCh38 Chromosome 20, 4699380: 4699403
3 PRNP NM_000311.4(PRNP): c.305C> T (p.Pro102Leu) single nucleotide variant Pathogenic rs74315401 GRCh37 Chromosome 20, 4680171: 4680171
4 PRNP NM_000311.4(PRNP): c.305C> T (p.Pro102Leu) single nucleotide variant Pathogenic rs74315401 GRCh38 Chromosome 20, 4699525: 4699525
5 PRNP NM_000311.4(PRNP): c.350C> T (p.Ala117Val) single nucleotide variant Pathogenic rs74315402 GRCh37 Chromosome 20, 4680216: 4680216
6 PRNP NM_000311.4(PRNP): c.350C> T (p.Ala117Val) single nucleotide variant Pathogenic rs74315402 GRCh38 Chromosome 20, 4699570: 4699570
7 PRNP NM_000311.4(PRNP): c.593T> C (p.Phe198Ser) single nucleotide variant Pathogenic rs74315405 GRCh37 Chromosome 20, 4680459: 4680459
8 PRNP NM_000311.4(PRNP): c.593T> C (p.Phe198Ser) single nucleotide variant Pathogenic rs74315405 GRCh38 Chromosome 20, 4699813: 4699813
9 PRNP NM_000311.4(PRNP): c.650A> G (p.Gln217Arg) single nucleotide variant Pathogenic rs74315406 GRCh37 Chromosome 20, 4680516: 4680516
10 PRNP NM_000311.4(PRNP): c.650A> G (p.Gln217Arg) single nucleotide variant Pathogenic rs74315406 GRCh38 Chromosome 20, 4699870: 4699870
11 PRNP NM_000311.4(PRNP): c.314C> T (p.Pro105Leu) single nucleotide variant Pathogenic rs11538758 GRCh37 Chromosome 20, 4680180: 4680180
12 PRNP NM_000311.4(PRNP): c.314C> T (p.Pro105Leu) single nucleotide variant Pathogenic rs11538758 GRCh38 Chromosome 20, 4699534: 4699534
13 PRNP NM_000311.4(PRNP): c.392G> T (p.Gly131Val) single nucleotide variant Pathogenic rs74315410 GRCh37 Chromosome 20, 4680258: 4680258
14 PRNP NM_000311.4(PRNP): c.392G> T (p.Gly131Val) single nucleotide variant Pathogenic rs74315410 GRCh38 Chromosome 20, 4699612: 4699612
15 PRNP NM_000311.4(PRNP): c.560A> G (p.His187Arg) single nucleotide variant Pathogenic rs74315413 GRCh37 Chromosome 20, 4680426: 4680426
16 PRNP NM_000311.4(PRNP): c.560A> G (p.His187Arg) single nucleotide variant Pathogenic rs74315413 GRCh38 Chromosome 20, 4699780: 4699780
17 PRNP NM_000311.4(PRNP): c.398C> T (p.Ala133Val) single nucleotide variant Pathogenic rs74315415 GRCh37 Chromosome 20, 4680264: 4680264
18 PRNP NM_000311.4(PRNP): c.398C> T (p.Ala133Val) single nucleotide variant Pathogenic rs74315415 GRCh38 Chromosome 20, 4699618: 4699618
19 PRNP NM_000311.4(PRNP): c.313C> T (p.Pro105Ser) single nucleotide variant Pathogenic rs74315414 GRCh37 Chromosome 20, 4680179: 4680179
20 PRNP NM_000311.4(PRNP): c.313C> T (p.Pro105Ser) single nucleotide variant Pathogenic rs74315414 GRCh38 Chromosome 20, 4699533: 4699533
21 PRNP NM_000311.4(PRNP): c.435T> G (p.Tyr145Ter) single nucleotide variant Pathogenic rs80356710 GRCh37 Chromosome 20, 4680301: 4680301
22 PRNP NM_000311.4(PRNP): c.435T> G (p.Tyr145Ter) single nucleotide variant Pathogenic rs80356710 GRCh38 Chromosome 20, 4699655: 4699655
23 PRNP NM_000311.4(PRNP): c.478C> T (p.Gln160Ter) single nucleotide variant Pathogenic rs80356711 GRCh37 Chromosome 20, 4680344: 4680344
24 PRNP NM_000311.4(PRNP): c.478C> T (p.Gln160Ter) single nucleotide variant Pathogenic rs80356711 GRCh38 Chromosome 20, 4699698: 4699698
25 PRNP NM_000311.4(PRNP): c.633G> C (p.Glu211Asp) single nucleotide variant Pathogenic rs398122413 GRCh37 Chromosome 20, 4680499: 4680499
26 PRNP NM_000311.4(PRNP): c.633G> C (p.Glu211Asp) single nucleotide variant Pathogenic rs398122413 GRCh38 Chromosome 20, 4699853: 4699853
27 PRNP NM_000311.4(PRNP): c.678C> A (p.Tyr226Ter) single nucleotide variant Pathogenic rs398122414 GRCh37 Chromosome 20, 4680544: 4680544
28 PRNP NM_000311.4(PRNP): c.678C> A (p.Tyr226Ter) single nucleotide variant Pathogenic rs398122414 GRCh38 Chromosome 20, 4699898: 4699898
29 PRNP NM_000311.4(PRNP): c.679C> T (p.Gln227Ter) single nucleotide variant Pathogenic rs17852079 GRCh37 Chromosome 20, 4680545: 4680545
30 PRNP NM_000311.4(PRNP): c.679C> T (p.Gln227Ter) single nucleotide variant Pathogenic rs17852079 GRCh38 Chromosome 20, 4699899: 4699899
31 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 11.87 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 region GO:0005576 9.65 APP C3 MSMB PLA2G2C THY1
2 extracellular exosome GO:0070062 9.63 APP C3 PRNP THY1 VDAC1 YWHAB
3 anchored component of external side of plasma membrane GO:0031362 8.96 PRNP THY1
4 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 or memory GO:0007611 9.43 APP PRNP
2 cellular response to amyloid-beta GO:1904646 9.4 APP PRNP
3 negative regulation of T cell receptor signaling pathway GO:0050860 9.37 PRNP THY1
4 regulation of peptidyl-tyrosine phosphorylation GO:0050730 9.32 APP PRNP
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 9.26 APP PRNP VDAC1 YWHAB
2 enzyme binding GO:0019899 8.8 APP THY1 YWHAB

Sources for Gerstmann-Straussler Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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