Phenotypes for disease #00205 (PRND (prion disease (PRND)), OMIM:606688)

10 entries on 1 page. Showing entries 1 - 10.
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Phenotype details     

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Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

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Individual ID     
0000016193 chronic diarrhea with autonomic failure; length dependent axonal, predominantly sensory, peripheral polyneuropathy onset in early adulthood; 40s-50s cognitive decline, seizures - - Familial, autosomal dominant - - - - - J Beck 00004299
0000016194 see paper - - Isolated (sporadic) 36y - - - - Johan den Dunnen 00004300
0000016195 see paper - - Isolated (sporadic) 43y - - - - Johan den Dunnen 00017842
0000016200 - - - Unknown 34y - - - - Johan den Dunnen 00017847
0000016201 dizziness, slurred speech, second grade nystagmus, cerebellar ataxia; nerve conduction revealed peripheral neuropathy - - Isolated (sporadic) 40y - - - - Johan den Dunnen 00017848
0000016202 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, ... - - Isolated (sporadic) 33y - - - - Johan den Dunnen 00017849
0000016207 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. ... - - Familial, autosomal dominant 51y - - - - Johan den Dunnen 00017852
0000016208 see paper - - Familial, autosomal dominant - - - - - Johan den Dunnen 00017853
0000016209 see paper - - Isolated (sporadic) - - - - - Johan den Dunnen 00017854
0000016210 see paper: progressive dementia, disorientation, cerebellar signs - - Isolated (sporadic) - - - - - Johan den Dunnen 00017855
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