MCID: INH025
MIFTS: 18

Inherited Prion Disease

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

Aliases & Classifications for Inherited Prion Disease

MalaCards integrated aliases for Inherited Prion Disease:

Name: Inherited Prion Disease 58
Familial Prion Disease 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 A81.8
Orphanet 58 ORPHA280400

Summaries for Inherited Prion Disease

MalaCards based summary : Inherited Prion Disease, also known as familial prion disease, is related to gerstmann-straussler disease and fatal familial insomnia. An important gene associated with Inherited Prion Disease is PRNP (Prion Protein). Affiliated tissues include brain, spinal cord and testes.

Related Diseases for Inherited Prion Disease

Graphical network of the top 20 diseases related to Inherited Prion Disease:



Diseases related to Inherited Prion Disease

Symptoms & Phenotypes for Inherited Prion Disease

Drugs & Therapeutics for Inherited Prion Disease

Search Clinical Trials , NIH Clinical Center for Inherited Prion Disease

Genetic Tests for Inherited Prion Disease

Anatomical Context for Inherited Prion Disease

MalaCards organs/tissues related to Inherited Prion Disease:

40
Brain, Spinal Cord, Testes, Testis, Thalamus

Publications for Inherited Prion Disease

Articles related to Inherited Prion Disease:

(showing 143, show less)
# Title Authors PMID Year
1
Genetic Factors in Mammalian Prion Diseases. 61
31537104 2019
2
Familial Creutzfeldt-Jakob Disease in an Indian Kindred. 61
31736569 2019
3
Introduction to Current Progress in Advanced Research on Prions. 61
31559970 2019
4
Nascent β Structure in the Elongated Hydrophobic Region of a Gerstmann-Sträussler-Scheinker PrP Allele. 61
31034890 2019
5
Early neurophysiological biomarkers and spinal cord pathology in inherited prion disease. 61
30778521 2019
6
Early neurophysiological biomarkers and spinal cord pathology in inherited prion disease. 61
30698738 2019
7
Gerstmann-Sträussler-Scheinker disease: A case report. 61
30746381 2019
8
Prion dimer is heterogenous and is modulated by multiple negative and positive motifs. 61
30600179 2019
9
Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know. 61
31616476 2019
10
Clinical features and genetic characteristics of two Chinese pedigrees with fatal family insomnia. 61
31122137 2019
11
Impaired transport of intrinsically disordered proteins through the Sec61 and SecY translocon; implications for prion diseases. 61
29388511 2018
12
Variably protease-sensitive prionopathy. 61
29887135 2018
13
Effects of a naturally occurring amino acid substitution in bovine PrP: a model for inherited prion disease in a natural host species. 61
29262866 2017
14
Different Complicated Brain Pathologies in Monozygotic Twins With Gerstmann-Sträussler-Scheinker Disease. 61
28922846 2017
15
Fatal Familial Insomnia: Clinical Aspects and Molecular Alterations. 61
28324299 2017
16
Copper- and Zinc-Promoted Interdomain Structure in the Prion Protein: A Mechanism for Autoinhibition of the Neurotoxic N-Terminus. 61
28838668 2017
17
Transmissibility of Gerstmann-Sträussler-Scheinker syndrome in rodent models: New insights into the molecular underpinnings of prion infectivity. 61
27892798 2016
18
Quantitative EEG parameters correlate with the progression of human prion diseases. 61
27413165 2016
19
Roles of methionine oxidation in E200K prion protein misfolding: Implications for the mechanism of pathogenesis in E200K linked familial Creutzfeldt-Jakob disease. 61
26779934 2016
20
'PrP systemic deposition disease': clinical and pathological characteristics of novel familial prion disease with 2-bp deletion in codon 178. 61
26768678 2016
21
Transmission Properties of Human PrP 102L Prions Challenge the Relevance of Mouse Models of GSS. 61
26135918 2015
22
Single photon emission computed tomography (SPECT) findings of a patient with a novel prion mutation. 61
25742899 2015
23
Predictive testing for inherited prion disease: report of 22 years experience. 61
24713662 2014
24
Reversible symptoms and clearance of mutant prion protein in an inducible model of a genetic prion disease in Drosophila melanogaster. 61
24686303 2014
25
β-hairpin-mediated formation of structurally distinct multimers of neurotoxic prion peptides. 61
24498083 2014
26
Genotype-phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation. 61
24275071 2013
27
Multiparameter MR imaging in the 6-OPRI variant of inherited prion disease. 61
23538406 2013
28
Filamentous white matter prion protein deposition is a distinctive feature of multiple inherited prion diseases. 61
24252267 2013
29
A novel familial prion disease causing pan-autonomic-sensory neuropathy and cognitive impairment. 61
23577609 2013
30
The Medical Research Council prion disease rating scale: a new outcome measure for prion disease therapeutic trials developed and validated using systematic observational studies. 61
23550114 2013
31
Clinical and familial characteristics of eight Chinese patients with T188K genetic Creutzfeldt-Jakob disease. 61
23261545 2013
32
Zinc drives a tertiary fold in the prion protein with familial disease mutation sites at the interface. 61
23290724 2013
33
Inherited prion disease A117V is not simply a proteinopathy but produces prions transmissible to transgenic mice expressing homologous prion protein. 61
24086135 2013
34
Inherited prion disease with 4-octapeptide repeat insertion linked to valine at codon 129. 61
22300874 2012
35
Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. 61
22210626 2012
36
Distinct neuropsychological profiles correspond to distribution of cortical thinning in inherited prion disease caused by insertional mutation. 61
21849340 2012
37
Allelic origin of protease-sensitive and protease-resistant prion protein isoforms in Gerstmann-Sträussler-Scheinker disease with the P102L mutation. 61
22384235 2012
38
Structural polymorphism in amyloids: new insights from studies with Y145Stop prion protein fibrils. 61
22002245 2011
39
Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein gene. 61
21911696 2011
40
Familial Alzheimer's disease and inherited prion disease in the UK are poorly ascertained. 61
20802216 2011
41
Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors. 61
21616973 2011
42
Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype. 61
21416485 2011
43
Atypical prion protein conformation in familial prion disease with PRNP P105T mutation. 61
20875062 2011
44
Lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann-Sträussler-Scheinker disease Pro102Leu. 61
21167505 2011
45
Familial CJD associated PrP mutants within transmembrane region induced Ctm-PrP retention in ER and triggered apoptosis by ER stress in SH-SY5Y cells. 61
21298055 2011
46
Probing the conformation of a prion protein fibril with hydrogen exchange. 61
20679344 2010
47
The H187R mutation of the human prion protein induces conversion of recombinant prion protein to the PrP(Sc)-like form. 61
20718410 2010
48
Glycosaminoglycan sulphation affects the seeded misfolding of a mutant prion protein. 61
20808809 2010
49
NMR structure of the human prion protein with the pathological Q212P mutation reveals unique structural features. 61
20661422 2010
50
PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit. 61
20583301 2010
51
Electrostatics in the stability and misfolding of the prion protein: salt bridges, self energy, and solvation. 61
20453937 2010
52
Brain-water diffusion coefficients reflect the severity of inherited prion disease. 61
20177119 2010
53
A distinct phenotype of leg hyperreflexia in a Japanese family with Gerstmann-Sträussler-Scheinker syndrome (P102L). 61
20154442 2010
54
Prion protein with an insertional mutation accumulates on axonal and dendritic plasmalemma and is associated with distinctive ultrastructural changes. 61
19700753 2009
55
Seven-year discordance in age at onset in monozygotic twins with inherited prion disease (P102L). 61
19207267 2009
56
Spontaneous generation of prion infectivity in fatal familial insomnia knockin mice. 61
19709627 2009
57
Age of onset and death in inherited prion disease are heritable. 61
18729123 2009
58
Selective processing and metabolism of disease-causing mutant prion proteins. 61
19543376 2009
59
Rapid fracture healing in a patient with inherited prion disease. 61
19335973 2009
60
Familial prion disease with a novel serine to isoleucine mutation at codon 132 of prion protein gene (PRNP). 61
19187063 2009
61
Phenotypic heterogeneity and genetic modifiers in prion disease caused by a Pro102Leu mutation in the PRNP gene. 61
19092795 2009
62
[Novel tool for diagnosis of amyloidosis]. 61
19086454 2008
63
Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series. 61
18757886 2008
64
Human prion disease with a G114V mutation and epidemiological studies in a Chinese family: a case series. 61
18925969 2008
65
GFP-tagged mutant prion protein forms intra-axonal aggregates in transgenic mice. 61
18514536 2008
66
Huntington's disease phenocopy syndromes. 61
17992089 2007
67
The differential diagnosis of chorea. 61
18024776 2007
68
Bilateral manual externalization of testis with self-castration in patient with prion disease. 61
17905126 2007
69
[Counseling families and patients with prion disease]. 61
17695282 2007
70
[Epidemiology and surveillance system of prion disease in Japan]. 61
17695272 2007
71
Inherited prion disease with 5-OPRI: phenotype modification by repeat length and codon 129. 61
17709704 2007
72
[Familial prion disease (GSS, familial CJD, FFI)]. 61
17695280 2007
73
Familial prion disease in a Hungarian family with a novel 144-base pair insertion in the prion protein gene. 61
17308293 2007
74
Accumulation of prion protein in the brain that is not associated with transmissible disease. 61
17360589 2007
75
Mutant prion protein D202N associated with familial prion disease is retained in the endoplasmic reticulum and forms 'curly' intracellular aggregates. 61
17873292 2007
76
Report on the first Chinese family with Gerstmann-Sträussler-Scheinker disease manifesting the codon 102 mutation in the prion protein gene. 61
17080720 2006
77
Inherited prion disease with six octapeptide repeat insertional mutation--molecular analysis of phenotypic heterogeneity. 61
16923955 2006
78
Bax deletion does not protect neurons from BSE-induced death. 61
16854590 2006
79
Childhood onset in familial prion disease with a novel mutation in the PRNP gene. 61
16831973 2006
80
Phenotypic heterogeneity in inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and mutant prion protein. 61
16597650 2006
81
Regional brain metabolite abnormalities in inherited prion disease and asymptomatic gene carriers demonstrated in vivo by quantitative proton magnetic resonance spectroscopy. 61
16598479 2006
82
Analysis of the cerebellar proteome in a transgenic mouse model of inherited prion disease reveals preclinical alteration of calcineurin activity. 61
16572473 2006
83
Distinct glycoform ratios of protease resistant prion protein associated with PRNP point mutations. 61
16415305 2006
84
Prion disease genetics. 61
16391566 2006
85
A novel mutation (G114V) in the prion protein gene in a family with inherited prion disease. 61
15851745 2005
86
Characterization of the F198S prion protein mutation: enhanced glycosylation and defective refolding. 61
15851854 2005
87
[The mystery of prion proteins: from neurodegenerative diseases to the biology of reproduction]. 61
15771969 2005
88
The neuropsychology of variant CJD: a comparative study with inherited and sporadic forms of prion disease. 61
15716521 2005
89
Bax deletion prevents neuronal loss but not neurological symptoms in a transgenic model of inherited prion disease. 61
15618403 2005
90
The C-terminal globular domain of the prion protein is necessary and sufficient for import into the endoplasmic reticulum. 61
14645231 2004
91
A novel tool for detecting amyloid deposits in systemic amyloidosis in vitro and in vivo. 61
14691293 2003
92
Generation of hydrogen peroxide from mutant forms of the prion protein fragment PrP121-231. 61
12820876 2003
93
Molecular distinction between pathogenic and infectious properties of the prion protein. 61
12805461 2003
94
Phenotypic variability in the brains of a family with a prion disease characterized by a 144-base pair insertion in the prion protein gene. 61
12662318 2003
95
A murine model of a familial prion disease. 61
12733431 2003
96
Early and persistent sensory-psychiatric symptoms in an inherited prion disease with a PrP P105L mutation. 61
12529802 2002
97
Sporadic and familial cerebral amyloid angiopathies. 61
12146803 2002
98
Huntington disease phenocopy is a familial prion disease. 61
11593450 2001
99
Inherited prion disease caused by the V210I mutation: transmission to transgenic mice. 61
11756597 2001
100
Crystal structure of the human prion protein reveals a mechanism for oligomerization. 61
11524679 2001
101
Inherited prion disease with A117V mutation of the prion protein gene: a novel Hungarian family. 61
11385020 2001
102
Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17. 61
11400017 2001
103
Ablation of the metal ion-induced endocytosis of the prion protein by disease-associated mutation of the octarepeat region. 61
11413003 2001
104
Report on the first polish case of the Gerstmann-Sträussler-Scheinker syndrome. 61
11678348 2001
105
Reversion of prion protein conformational changes by synthetic beta-sheet breaker peptides. 61
10675119 2000
106
A transgenic model of a familial prion disease. 61
11214912 2000
107
Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene. 61
10581230 1999
108
Novel twelve-generation kindred of fatal familial insomnia from germany representing the entire spectrum of disease expression. 61
10588836 1999
109
Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene. 61
10506086 1999
110
An inherited prion disease with a PrP P105L mutation: clinicopathologic and PrP heterogeneity. 61
10408557 1999
111
Familial prion disease mutation alters the secondary structure of recombinant mouse prion protein: implications for the mechanism of prion formation. 61
10079070 1999
112
[Prion disease and brain amyloidosis]. 61
10412591 1999
113
Fatal familial insomnia in a new Italian kindred. 61
9818894 1998
114
Conclusions of the symposium. 61
9669714 1998
115
Fatal familial insomnia: genetic, neuropathologic, and biochemical study of a patient from a new Italian kindred. 61
9521257 1998
116
[Familial fatal insomnia: a human prion disease which opens the door to a greater understanding of the thalamus]. 61
10420962 1997
117
Cerebral and cerebellar atrophy on serial magnetic resonance imaging in an initially symptom free subject at risk of familial prion disease. 61
9353507 1997
118
The D178N (cis-129M) "fatal familial insomnia" mutation associated with diverse clinicopathologic phenotypes in an Australian kindred. 61
9270595 1997
119
Cerebral metabolism in fatal familial insomnia: relation to duration, neuropathology, and distribution of protease-resistant prion protein. 61
9222180 1997
120
Familial prion disease with a novel 144-bp insertion in the prion protein gene in a Basque family. 61
9222181 1997
121
Transgenic analysis of prion diseases. 61
9239743 1997
122
X-ray diffraction analysis of scrapie prion: intermediate and folded structures in a peptide containing two putative alpha-helices. 61
9159477 1997
123
Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease. 61
8909447 1996
124
Is hereditary inclusion body myopathy a "familial prion disease" ? 61
8687183 1996
125
Fatal familial insomnia: behavioral and cognitive features. 61
8780067 1996
126
Insoluble wild-type and protease-resistant mutant prion protein in brains of patients with inherited prion disease. 61
8564843 1996
127
Hypokinesia and presenile dementia in a Dutch family with a novel insertion in the prion protein gene. 61
8595485 1995
128
X-ray diffraction of scrapie prion rods and PrP peptides. 61
7563061 1995
129
Double replacement gene targeting for the production of a series of mouse strains with different prion protein gene alterations. 61
9636277 1995
130
Theoretical studies of sequence effects on the conformational properties of a fragment of the prion protein: implications for scrapie formation. 61
9383432 1995
131
Prion disease with 144 base pair insertion in a Japanese family line. 61
7572084 1995
132
Alzheimer's disease and Creutzfeldt-Jakob disease: overlap of pathogenic mechanisms. 61
7904883 1993
133
A new inherited prion disease (PrP-P105L mutation) showing spastic paraparesis. 61
8250529 1993
134
Cerebral amyloid in human prion disease. 61
8355811 1993
135
Prion diseases in humans and their relevance to other neurodegenerative diseases. 61
8401789 1993
136
Inherited prion disease. 61
8490359 1993
137
Inherited prion disease. 61
8490360 1993
138
Genetic characterization of a familial non-specific dementia originating in Jutland, Denmark. 61
8445394 1993
139
Inherited prion disease (PrP lysine 200) in Britain: two case reports. 61
8461647 1993
140
Inherited prion disease with 144 base pair gene insertion. 2. Clinical and pathological features. 61
1352725 1992
141
Inherited prion disease with 144 base pair gene insertion. 1. Genealogical and molecular studies. 61
1352724 1992
142
Aminoacid polymorphism in human prion protein and age at death in inherited prion disease. 61
1674080 1991
143
Three hamster species with different scrapie incubation times and neuropathological features encode distinct prion proteins. 61
2406562 1990

Variations for Inherited Prion Disease

Expression for Inherited Prion Disease

Search GEO for disease gene expression data for Inherited Prion Disease.

Pathways for Inherited Prion Disease

GO Terms for Inherited Prion Disease

Sources for Inherited Prion Disease

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
Content
Loading form....