Disease #00205 (PRND (prion disease (PRND)), OMIM:606688)

Official abbreviation PRND
Name prion disease (PRND)
OMIM ID 606688
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 10
Phenotype entries for this disease 10
Associated with 1 gene PRNP
Associated tissues -
Disease features -
Remarks -


Individuals

10 entries on 1 page. Showing entries 1 - 10.
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00004299 - PubMed: Mead 2013 5-generation family, 11 affecteds (8F, 3M), 9 deceased - no United Kingdom (Great Britain) - - - - - PRND chronic diarrhea with autonomic failure; length dependent axonal, predominantly sensory, peripheral polyneuropathy onset in early adulthood; 40s-50s cognitive decline, seizures PRNP PRNP 1 11 J Beck
00004300 - PubMed: Beck 2010 - F ? Ireland - - - - - PRND see paper PRNP PRNP 1 1 J Beck
00017842 - PubMed: Beck 2010 - F no Uganda Gujarati 48y - - - PRND see paper PRNP PRNP 1 1 Johan den Dunnen
00017847 - PubMed: Beck 2010 - F ? Turkey - - - - - PRND - PRNP PRNP 1 1 Johan den Dunnen
00017848 - PubMed: Beck 2010 - F ? Jamaica - - - - - PRND dizziness, slurred speech, second grade nystagmus, cerebellar ataxia; nerve conduction revealed peripheral neuropathy PRNP PRNP 3 1 Johan den Dunnen
00017849 - PubMed: Beck 2010 - F ? United Kingdom (Great Britain) - >43y - - - 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, ... PRNP PRNP 3 1 Johan den Dunnen
00017852 - PubMed: Mead 2007 4-generation famlily, 4 affecteds (F, 3M) - no South Africa - 53y - - - 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. ... PRNP PRNP 1 1 Johan den Dunnen
00017853 - PubMed: Mead 2007 3-generation family, 3 affecteds (2F, M) ? no - - - - - - PRND see paper PRNP PRNP 1 3 Johan den Dunnen
00017854 - PubMed: Mead 2007 - F no Netherlands - - - - - PRND see paper PRNP PRNP 1 1 Johan den Dunnen
00017855 - PubMed: Beck 2007 - F no Japan - >49y - - - PRND see paper: progressive dementia, disorientation, cerebellar signs PRNP PRNP 1 1 Johan den Dunnen
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