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CORTICAL DISORDERS

HUNTINGTON DISEASE (HTT 4p16.3)

CHOREA (90%)

PSYCHIATRIC MANIFESTATIONS

PARKINSONISM/ DYSTONIA

ATAXIA/TICS

NO FAMILY HISTORY IN 8%

HDL1 (PRPN)

EARLY TO MID ADULTHOOD

FAMILIAL PRION DISEASE

PHENOTYPES:

GENETIC CREUTZFELDT JACKOB DISEASE

FAMILIAL FATAL INSOMNIA

GERSTMANN STRAUSSLER DISEASE (PRPN MUTATION)

PSYCHIATRIC MANIFESTATIONS

CHOREA/ PARKINSONISM

ATAXIA/ MYOCLONUS

HDL2 (CAG REPEAT >40 JPH3)

EARLY TO MID ADULTHOOD

CLINICALLY SIMILAR TO HUNTINGTON'S DISEASE

PSYCHIATRIC MANIFESTATIONS

DEMENTIA/ ATAXIA

CHOREA/ PARKINSONISM

NIID (NOTCH2NLC GGC REPEAT)

ACTION/ POSTURAL TREMOR

DEMENTIA (ALZEIMER'S TYPE)

PARKINSONISM/ DYSTONIA 

ATAXIA(50%)

PERIPHERAL NEUROPATHY

PERIPHERAL DENERVATION

AUTONOMIC DYSFUNCTION: MIOSIS

PHENOTYPE:

FXTAS LIKE

MSA/ PD PHENOTYPE

MRI: CORTICOMEDULLARY JUNCTION

DWI RIBBON LIKE HYPER-INTENSITIES

LEUKODYSTROPHY

BASAL GANGLIA DISORDERS

SNJ1

SEIZURE/ OCULOMOTOR/ COGNITION

DYSTONIA

DNAJC6

PYRAMIDAL/ SEIZURE/ COGNITION

PSYCHIATRY/ TYPICAL PARKINSON'S DISEASE

DNAJC12

NON-PROGRESS PARKINSONISM

MILD COGNITIVE DECLINE

EPILEPSY

RX: LEVODOPA RESPONSIVE

BH4 (BIOTIN RESPONSIVE)

BH4 IS COFACTOR IN DOPAMINE AND SEROTONIN SYNTHESIS

PHENYLKETONURIA (PAH)

CHILDHOOD - ADULT ONSET

DEMENTIA/ PARKINSONISM

SPASTIC PARAPARESIS/ TREMOR

MRI: LEUKODYSTROPHY

RX: PHENYLALANINE RESTRICTED DIET

SAPROPTERIDIN DIHYDROCHLORIDE (KUVAN)

MRI: ATROPHY/WMH

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ATYPICAL PARKINSONISM [LINK]

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