All individuals with variants in gene PRNP

82 entries on 1 page. Showing entries 1 - 82.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00004164 - - 4-generation family, 4 affecteds ? ? United States - - - - - GSD - 2 4 Johan den Dunnen
00004165 - - 4-generation family, 19 affecteds ? ? United Kingdom (Great Britain) - - - - - GSD - 1 19 Johan den Dunnen
00004166 - - - ? ? ? (unknown) - - - - - ? - 2 1 Johan den Dunnen
00004167 - - - ? ? ? (unknown) - - - - - ? - 2 1 Johan den Dunnen
00004168 - - - ? ? ? (unknown) - - - - - Healthy/Control - 2 7 Johan den Dunnen
00004169 - - daugther Case2 F ? Japan - - - - - CJD - 2 1 Johan den Dunnen
00004170 - - brother of Case3, nephew Case2 M ? Japan - - - - - CJD - 1 1 Johan den Dunnen
00004171 - - mother Case4, aunt Case1/3 F ? Japan - - - - - CJD - 1 1 Johan den Dunnen
00004172 - - brother of Case1, nephew Case2 M ? Japan - - - - - CJD - 1 1 Johan den Dunnen
00004173 - - 5-generation family, 11 affecteds ? ? United States - - - - - GSD - 4 11 Johan den Dunnen
00004174 - - - ? ? Japan - - - - - CJD - 2 1 Johan den Dunnen
00004175 - - - ? ? Japan - - - - - GSD - 2 1 Johan den Dunnen
00004176 - - - ? ? Japan - - - - - GSD - 2 1 Johan den Dunnen
00004177 - - - ? ? Japan - - - - - GSD - 2 1 Johan den Dunnen
00004178 - - large multi-generation family ? ? United States - - - - - GSD - 2 1 Johan den Dunnen
00004179 - - large multi-generation family ? ? United States - - - - - GSD - 3 1 Johan den Dunnen
00004180 - - - ? ? United States - - - - - FFI - 4 1 Johan den Dunnen
00004181 - - affected proband, mother and maternal grandfather ? ? United States - - - - - Healthy/Control - 1 3 Johan den Dunnen
00004182 - - - ? ? United States - - - - - CIR - 1 1 Johan den Dunnen
00004183 - - - ? ? United States - - - - - CJD - 1 1 Johan den Dunnen
00004184 - - - ? ? United States - - - - - CJD - 1 1 Johan den Dunnen
00004185 - - - ? ? United States - - - - - CJD - 2 3 Johan den Dunnen
00004186 - - - ? ? France - - - - - GSD - 1 1 Johan den Dunnen
00004187 - - 3-generation family, 5 affecteds ? ? United States - - - - - CJD - 2 5 Johan den Dunnen
00004188 - - family, 3 affecteds ? ? Tunisia - - - - - CJD - 1 9 Johan den Dunnen
00004189 - - multi-generation family ? ? United States - - - - - CJD dementia, atypical 2 1 Johan den Dunnen
00004190 - - 120 controls ? ? United States - - - - - Healthy/Control - 1 6 Johan den Dunnen
00004191 - - - ? ? Italy - - - - - DEM dementia, atypical 4 1 Johan den Dunnen
00004192 - - 3-generation family, 2 affected brothers ? ? Japan - - - - - DEM - 2 2 Johan den Dunnen
00004193 - - 3-generation family, young son affected brother ? ? Japan - - - - - Healthy/Control asymptomatic 2 1 Johan den Dunnen
00004194 - - - ? ? United States - - - - - AD - 2 3 Johan den Dunnen
00004195 - - 3-generation family, 2 affected sisters, 2 unaffected carrier sisters ? ? Italy - - - - - CJD - 2 4 Johan den Dunnen
00004196 - - 2 unrelated patients ? ? Italy - - - - - CJD - 1 2 Johan den Dunnen
00004197 - - - ? ? Italy - - - - - CJD - 2 1 Johan den Dunnen
00004198 - - - ? ? Italy - - - - - CJD - 3 1 Johan den Dunnen
00004199 - - - ? ? Italy - - - - - CJD - 1 1 Johan den Dunnen
00004200 - - - ? ? Italy - - - - - CJD - 1 1 Johan den Dunnen
00004201 - - patient and affected carrier brother ? ? Italy - - - - - CJD - 2 2 Johan den Dunnen
00004202 - - - ? ? Japan - - - - - GSD - 2 1 Johan den Dunnen
00004203 - - - ? ? Japan - - - - - GSD - 3 1 Johan den Dunnen
00004204 - - 5-generation family, 4 affecteds ? ? Germany - - - - - DEM slowly progressive, ataxia 1 1 Johan den Dunnen
00004205 - - - ? ? United Kingdom (Great Britain) - - - - - DEM - 1 1 Johan den Dunnen
00004206 - - 3-generation family, 6 affecteds ? ? Netherlands - - - - - DEM hypokinesia and presenile dementia 1 6 Johan den Dunnen
00004207 - - 5-generation family, 11 affecteds ? ? France - - - - - GSD - 2 11 Johan den Dunnen
00004208 - - family, 4 affecteds ? ? Japan - - - - - DEM slowly progressive 1 4 Johan den Dunnen
00004209 - - 4-generation family, 2 affecteds ? ? United States - - - - - CJD atypical 2 2 Johan den Dunnen
00004210 - - - ? ? Italy - - - - - Healthy/Control - 1 1 Johan den Dunnen
00004211 - - - ? ? - (not applicable) - - - - - Healthy/Control - 11 1 Johan den Dunnen
00004212 - - family, 3 affecteds ? ? ? (unknown) - - - - - GSD - 1 3 Johan den Dunnen
00004298 - PubMed: Beck 2010 - - - - - - 0 - - ? - 1 1 J Beck
00004299 - PubMed: Mead 2013 5-generation family, 11 affecteds (8F, 3M), 9 deceased - no United Kingdom (Great Britain) - - 0 - - PRND chronic diarrhea with autonomic failure; length dependent axonal, predominantly sensory, peripheral polyneuropathy onset in early adulthood; 40s-50s cognitive decline, seizures 1 11 J Beck
00004300 - PubMed: Beck 2010 - F ? Ireland - - 0 - - PRND see paper 1 1 J Beck
00004301 - - - - - - - - 0 - - ? - 1 1 J Beck
00004302 - PubMed: Mead 2007 - - - United Kingdom (Great Britain) - - 0 - - ? - 1 1 J Beck
00004303 - PubMed: Poulter 1992 - - - United Kingdom (Great Britain) - - 0 - - ? - 1 1 J Beck
00004304 - PubMed: Kaski 2011 - - - United Kingdom (Great Britain) - - 0 - - ? - 1 1 J Beck
00004305 - - - - - United Kingdom (Great Britain) - - 0 - - ? - 1 1 J Beck
00004489 - - - - - United Kingdom (Great Britain) - - 0 - - ? - 1 1 J Beck
00004499 - - - - - United Kingdom (Great Britain) - - 0 - - ? - 1 1 J Beck
00004500 - PubMed: Mead 2007 - - - United Kingdom (Great Britain) - - 0 - - ? - 1 1 J Beck
00011462 - PubMed: Owen 2014 - - - - - - 0 - - CJD - 1 135 J Beck
00011464 - - - - - - - - 0 - - - - 1 1 J Beck
00017842 - PubMed: Beck 2010 - F no Uganda Gujarati 48y 0 - - PRND see paper 1 1 Johan den Dunnen
00017843 - PubMed: Beck 2010 - ? ? Uganda Gujarati - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00017844 - PubMed: Beck 2010 2-generation family, 1 affected, unaffected heterozygous carrier mother (65y) M ? Turkey - 35y 0 - - ? see paper; 33y-forgetfulness, emotional lability, aggressive outbursts34y-unable to recognise family members, incontinence, severe non-fluent expressive dysphasia, rigidity, hyperreflexia, extensor plantars, palmomental/grasp reflexes; EEG generalised slow activity; MRI moderate frontotemporal cortical atrophy In the following months his walking deteriorated to a slow and stiff gait, he exhibited an exaggerated startle and he died 2 years after disease onset 1 2 Johan den Dunnen
00017845 - PubMed: Beck 2010 - M ? India Inida, south >75y 0 - - CJD see paper; 75y-excessive fatigue, perceived left sided weakness/sensory disturbances feet; in 6m rapid deterioration, recurrent falls, asymmetrical akinetic rigid syndrome, broken pursuit eye movements, myoclonic jerks, mild apraxia with well preserved cognition; MRI high signal change putamen/caudate nuclei bilaterally (particularly right); CSF unremarkable (14-3-3 absent); EEG left hemisphere slow wave activity; declined rapidly, died without post-mortem examination 2 1 Johan den Dunnen
00017847 - PubMed: Beck 2010 - F ? Turkey - - 0 - - PRND - 1 1 Johan den Dunnen
00017848 - PubMed: Beck 2010 - F ? Jamaica - - 0 - - PRND dizziness, slurred speech, second grade nystagmus, cerebellar ataxia; nerve conduction revealed peripheral neuropathy 3 1 Johan den Dunnen
00017849 - PubMed: Beck 2010 - F ? United Kingdom (Great Britain) - >43y 0 - - PRND 33y-psychotic depression, clumsiness, balance/gait difficulties, required residential home support; 34y-increasing gait disturbances, spastic paraparesis with extrapyramidal features, dyspraxia, urgency of micturition, short term memory difficulties, significant frontal lobe dysfunction; MRI moderate generalised atrophy; EEG non-specific changes; CSF slightly elevated S100, negative for 14-3-3 protein;mrapid cognitive decline with psychiatric disturbance, incontinence, leg spasms, cerebellar dysfunction; 43y-severly ill, bed bound, gastrotomy, requiring 24 hour nursing care, ... 3 1 Johan den Dunnen
00017850 - PubMed: Beck 2010 small family, affected male, affected untested brother, sister and mother - - Italy Sicily >61y 0 - - GSD typical history of Gerstmann-Straussler syndrome incl. progressive cerebellar ataxia, late cognitive decline, 5y disease duration 2 1 Johan den Dunnen
00017852 - PubMed: Mead 2007 4-generation famlily, 4 affecteds (F, 3M) - no South Africa - 53y 0 - - PRND see paper; rapidly progressive dementia/ataxia over 1y to mute akinetic state with widespread spontaneous myoclonic jerks; initial subtle personality changes, soon followed by progressive memory loss. ... 1 1 Johan den Dunnen
00017853 - PubMed: Mead 2007 3-generation family, 3 affecteds (2F, M) ? no - - - 0 - - PRND see paper 1 3 Johan den Dunnen
00017854 - PubMed: Mead 2007 - F no Netherlands - - 0 - - PRND see paper 1 1 Johan den Dunnen
00017855 - PubMed: Beck 2007 - F no Japan - >49y 0 - - PRND see paper: progressive dementia, disorientation, cerebellar signs 1 1 Johan den Dunnen
00017856 - PubMed: Cochran 1996 6-generation family, 10 affecteds ? no United States Ukrain;Jewish-Ashkenazi - 0 - - CJD see paper 1 10 Johan den Dunnen
00017857 - PubMed: Skworc 1999 3-generation family, 3 affecteds (3F) F no Germany - - 0 - - CJD see paper 1 3 Johan den Dunnen
00017858 - - - - - United Kingdom (Great Britain) - - 0 - - ? - 1 1 J Beck
00017859 - - - - - United Kingdom (Great Britain) - - 0 - - ? - 1 1 J Beck
00017860 - - - - - United Kingdom (Great Britain) - - 0 - - ? - 1 1 J Beck
00017861 - - - - - United Kingdom (Great Britain) - - 0 - - ? - 1 1 J Beck
00288215 Pat25 PubMed: Lee 2019 - - - United States - - 0 - - ? joint stiffness, spasticity, dementia, dysarthria, cognitive impairment, ataxia, chorea, depressivity, dysmetria, tremor, hyperreflexia, slurred speech, dysphagia, rigidity, dysdiadochokinesis, gait imbalance, clumsiness, muscle fibrillation, cerebellar atrophy, dilation of lateral ventricles, brain atrophy, iron accumulation in brain, urinary incontinence 1 1 Johan den Dunnen
00303041 Pat86 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset childhood 1 1 Johan den Dunnen
Legend   How to query