Summary of symptoms, signs, and investigations

Patient 1 Patient 2 Patient 3
Age231735
Duration of illness (months)271712
Presenting symptomsUnsteadinessCollapsePoor memory
DepressionDepressionPersonality change
HeadacheBehavioural change
Poor memory
Early signsCerebellar syndromeAgitationPsychomotor retardation
Choreiform movementsDementiaDementia
Pyramidal signs
Dementia
Late signsAkinetic mutismAkinetic mutismAkinetic mutism
SpasticityOcular myoclonusSpasticity
Frequent generalised myoclonic jerksInfrequent myoclonic jerks
EEGNormalNon-specifically abnormalNon-specifically abnormal
CSFAcellularAcellularAcellular
 ProteinNormalNormalVery high
 Oligoclonal bandsNegativeNegativeNegative
 14.3.3 ProteinPositiveNegativePositive
Genotype at codon 129HomozygousHomozygousHomozygous
Tonsil biopsyPositiveNot donePositive
MRINormalHigh signal posterior thalamus bilaterallyHigh signal posterior thalamus bilaterally and patchy high signal change within the white matter of both cerebral hemispheres