CORTICAL/ SUBCORTICAL DISORDERS
DRPLA
<20YS: ATAXIA/ MYOCLONUS
SEIZURES/ CHOREA/ DYSTONIA
>20YRS: ATAXIA/ COGNITION
PSYCHIATRIC MANIFESTATIONS
CHOREA/ DYSTONIA
MRI: CEREBELLAR/ BRAIN STEM ATROPHY
​
LAFORA BODY DISEASE
HALLUCINATIONS/ COGNITION/ ATAXIA
OCCIPITAL SEIZURES/ MYOCLONIC SEIZURES
GTCS/ ABSENCE/ ATONIC SEIZURES
​
SSPE
BEHAVIOR/ COGNITION/ SEIZURES
DYSTONIC MYOCLONUS
RETINITIS/ PAPILLEDEMA
LAB: ANTIMEASLES ANTIBODIES
> 1:4 CSF/ > 1:256 SERUM
EEG RADERMECKER COMPLEX:
HIGH AMPLITUDE BILATERAL SYNCHRONOUS SLOW WAVES
MRI: CEREBRAL ATROPHY
VENTRICULOMEGALY
PERIVENTRICULAR/ BRAIN STEM WMH
​
CREUTZFELDT JACOB DISEASE
EXTRAPYRAMIDAL/ PYRAMIDAL
CEREBELLAR/ VISUAL
AKINETIC MUTISM
GAUCHER DISEASE (GBA)
GD3: JUVENILE GD
AGE OF ONSET <10 YRS
HSGP (EARLY) / VSGP (LATE)
CONVERGENT SQUINT (VI NERVE PALSY)
COGNITION/ EPILEPSY/ PME
FACE/ LIMB DYSTONIA
ATAXIA/ SPASTICITY
​
CEREBRAL AMYLOID ANGIOPATHY
DYSTONIC MYOCLONUS LIKE SSPE
PARKINSONISM
RESPONSE TO STEROIDS
POSSIBLE ANGIITIS/ INFLAMMATION
​
RELN
EXAGGERATED STARTLE
PSYCHIATRY
AGE OF ONSET < 30YRS
ALCOHOL RESPONSIVE
​
CEREBELLUM/ TRACTS
POLG1 (NUCLEAR DNA)
MIRAS (POLG1)
CHILDHOOD: ENCEPHALOPATHY
JUVENILE: EPILEPSY/ MIGRAINE
ADULT ONSET: ATAXIA NEUROPATHY
MEMSA (POLG1)
MYOCLONIC EPILEPSY/ MYOPATHY
SENSORY ATAXIA
​
SCAE (POLG1)
OLD TERMINOLOGY
NOW INCLUDES MEMSA
​
MITOCHONDRIAL DNA
LEIGH SYNDROME
MITOCHONDRIAL/ NUCLEAR GENES INVOLVED IN OXIDATIVE PHOSPHORYLATION (COMPLEX 1-4)
COGNITION/ ATAXIA
OPTIC ATROPHY/ RETINITIS PIGMENTOSA
STRABISMUS/ OPHTHALMOPARESIS
NEUROPATHY/ MYOPATHY
SHORT STATURE/ CARDIOMYOPATHY
ADULT ONSET SUBACUTE NECROTIZING ENCEPHALOPATHY:
VISION PROBLEM/ ATAXIA
​
MERRF
MYOCLONUS/ GTCS
ATAXIA/ NEUROPATHY/ MYOPATHY
​
LYSOSOMAL
GM2 GANGLIOSIDOSIS
ATAXIA/ PARKINSONISM
DEMENTIA/ SEIZURES
SLOW MND
​
NCL (TPP1)
AGE OF ONSET <20YRS
DEMENTIA/ SEIZURES/VISION LOSS
CAN PRESENT AS PURE CEREBELLAR ATAXIA
MRI: CEREBELLAR ATROPHY
​
SPORADIC
CELIAC DISEASE
ATAXIA/ LEG MYOCLONUS
GOBBI SYNDROME: CEC SYNDROME
CELIAC DISEASE/ SEIZURES
MRI: BILATERAL OCCIPITAL CALCIFICATIONS
​
CORTICAL TREMOR
AGE OF ONSET 3-70YRS
EPILEPSY MAY BE ABSENT
AUTOSOMAL DOMINANT/ RECESSIVE
ENLARGED SSEP: N20-P25/ P25-N33
ENLARGED LLR1 (C-REFLEX)/ LLR3
​
SAMD12 (FCMTE1)
TTCA/ TTTA/ TTGA PENTANUCLEOTIDE REPEAT OF INTRON 4
​
STARD7 (FCMTE2)
ATTTC PENTANUCLEOTIDE REPEAT
​
MARCH6 (FCMTE3)
TTTA/TTTCA PENTANUCLEOTIDE REPEAT
YEATS2 (FCMTE4)
AR/ THAILAND
​
CNTN2 (CONTACTIN) (FCMTE5)
AR/ EGYPT​
​
TNRC6A (FCMTE6)
TTTA/TTTCA PENTANUCLEOTIDE REPEAT
RAPGEF2 (FCMTE7)
TTTA/TTTCA PENTANUCLEOTIDE REPEAT
​
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BASAL GANGLIA
NIEMANN PICK C DISEASE
VSGP/ GELASTIC CATAPLEXY
ATAXIA/ DYSTONIA/ CHOREA
HEPATOSPLEENOMEGALY
THROMBOCYTOPENIA