CORTEX/  SUBCORTICAL

HUNTINGTON DISEASE (HTT 4p16.3)

PSYCHIATRIC MANIFESTATIONS

DEMENTIA

CHOREA (90%)/ DYSTONIA

PARKINSONISM/ATAXIA/TICS

NO FAMILY HISTORY IN 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 MUTATIONS)

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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C9ORF72 (ALS-FTD) 

AGE OF ONSET 8-80YRS

FTD/ PARKINSONISM/ CHOREA

DYSTONIA/ ATAXIA (RARE)

30% PRESENT WITH MOVEMENT DISORDER

PHENOTYPES:

HD/FTD

PSP/ CBS/ MSA

MND/ PLS

 

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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LYSOSOMAL DISOREDRS

GAUCHER DISEASE (GBA) 

GD1: ADULT GD

VARIED AGE PRESENTATION 

COGINITION/ PARKINSONISM

TREMOR/ ATAXIA

INCREASED RISK FOR PD (10x)

POOR RESPONSE TO LEVODOPA

NO EYE MOVEMENT ABNORMALITY

ACUTE PAINFUL BONE CRISIS

LAB: ANAEMIA/ PANCYTOPENIA 

THROMBOCYTOPENIA 

HEPATOSPLEENOMEGALY

GD3: JUVENILE GD

AGE OF ONSET <10 YRS

HSGP (EARLY) / VSGP (LATE)

CONVERGENT SQUINT (VI NERVE PALSY)

COGNITION/ EPILEPSY/

PROGRESSIVE MYOCLONIC EPILEPSY  

FACE/ LIMB DYSTONIA

ATAXIA/ SPASTICITY

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PELIZAEUS MERZBACHER DISEASE (PLP1)

ONSET IN CHILDHOOD

SURVIVAL TILL LATE ADULTHOOD

SPASTIC ATAXIA 

SPG2 (PURE SPASTIC PARAPARESIS)​

MULTIFOCAL DEMYELINATING NEUROPATHY

COGNITION/ TITUBATION 

DYSTONIA/ CHOREA OF EXTREMITIES

HEAD AND UPPER LIMB TREMOR

MRI: HYPOMYELINATION

INTERNAL CAPSULE/ OPTIC RADIATION

PROXIMAL CORONAL RADIATA

CEREBELLAR ATROPHY

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