CORTICAL/ SUBCORTICAL

HUNTINGTON DISEASE (HTT 4p16.3)

CHOREA (90%)

PSYCHIATRIC MANIFESTATIONS

PARKINSONISM/ DYSTONIA

ATAXIA/TICS

NO FAMILY HISTORY (8%)

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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

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HDL2 (CAG REPEAT >40 JPH3)

EARLY TO MID-ADULTHOOD

CLINICALLY SIMILAR TO HUNTINGTON'S DISEASE

PSYCHIATRIC MANIFESTATIONS

DEMENTIA/ ATAXIA

CHOREA/ PARKINSONISM

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HDL3

ARAB POPULAITON/ YOUNG

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DRPLA

<20YS: ATAXIA/ MYOCLONUS

SEIZURES/ CHOREA/ DYSTONIA

HIGH REPEATS

>20YRS: ATAXIA/ COGNITION

PSYCHIATRIC MANIFESTATIONS

CHOREA/ DYSTONIA

LOW REPEATS

PHENOTYPES:

LATE ONSET ATAXIA

HUNTINGTON'S DISEASE

MRI: CEREBELLAR/ BRAIN STEM ATROPHY

PERIVENTRICULAR AND CENTRAL PONS HYPERINTENSITY

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C9ORF72 (ALS-FTD) 

AGE OF ONSET 8-80YRS

PHENOTYPES:

HD/ PSP/ CBS/ MSA/ FTD

PARKINSONISM/ CHOREA 

DYSTONIA/ATAXIA

MND/ PLS

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NIID (NOTCH2NLC GGC REPEAT)

ACTION/ POSTURAL TREMOR

DEMENTIA (ALZEIMER'S TYPE)

PARKINSONISM/ DYSTONIA/ CHOREA 

ATAXIA(50%)

PERIPHERAL NEUROPATHY/ LIMB WEAKNESS

PERIPHERAL DENERVATION

AUTONOMIC DYSFUNCTION: MIOSIS

DRY COUGH

PHENOTYPE:

FXTAS PHENOTYPE

MSA/ PD PHENOTYPE

MRI: CORTICOMEDULLARY JUNCTION

DWI RIBBON-LIKE HYPER-INTENSITIES

LEUKODYSTROPHY

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BASAL GANGLIA

CHOREA-ACANTHOCYTOSIS

ChAC (VPS13A)

AGE OF ONSET 20-60YRS

ACTION TONGUE DYSTONIA

FEEDING DYSTONIA/ TICS

PARKINSONISM (MAYBE PRESENTING SIGN)

RUBBER-MAN GAIT (KNEE AND HIP BUCKING)

DROP ATTACK

NEUROPATHY/ MYOPATHY

PSYCHIATRIC MANIFESTATIONS/ SEIZURE 

HEPATO-SPLENOMEGALY

LAB: CPK/ LFT ELEVATED

ACANTHOCYTES ARE TO BE SEEN IN 1:1 DILUTION IN NORMAL SALINE WITH A PHASE CONTRAST MICROSCOPE

ACANTHOCYTE CAN BE ABSENT

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CEREBELLUM/ TRACTS

SPINOCEREBELLAR ATAXIA

SCA 17 (TBP CAG REPEAT)

PSYCHIATRIC SYMPTOMS/ DEMENTIA

ATAXIA/ SPASTICITY/ CHOREA

PARKINSONISM

AUTONOMIC DYSFUNCTION

SUPRANUCLEAR GAZE PALSY

PHENOTYPE

PSP/ MSA/ HUNTINGTON'S DISEASE 

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FRAGILE X TREMOR ATAXIA SYNDROME (FMR1)

M (1:2500)/ F (1:5000)

PARKINSONISM (85%)

ATAXIA (85%)

TREMOR (90-100%)

COGNITION (50%)

RARELY CHOREA

PSYCHIATRIC MANIFESTATIONS

NEUROPATHY/ AUTONOMIC DYSFUNCTION

FEMALES: MILD AND LATE-ONSET SYMPTOMS

EARLY MENOPAUSE/ IRREGULAR MENSES

MRI: MCP HYPERINTENSITY (LESS IN FEMALES)

CORTICOMEDULLARY JUNCTION

RIBBON LIKE HYPER-INTENSITIES (DWI)

SPLENIUM HYPERINTENSITY (F>M)

CENTRAL PONS HYPERINTENSITY (F>M)

RX: PARKINSONISM RESPONSIVE TO LEVODOPA

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