Phenotype #0000016198

Individual ID 00017845
Associated disease CJD
Phenotype details 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
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 75y (75 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2014-07-04 16:47:22 +02:00 (CEST)
Date last edited 2014-07-04 16:50:30 +02:00 (CEST)

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