CORTICAL
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
C9ORF72 (ALS-FTD)
AGE OF ONSET 8-80YRS
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
BASAL GANGLIA
VITAMIN DISORDERS
BT-BGD (SLC19A3)
<6Y : INFANTILE SPASM
6-15 : DYSTONIA/ ATAXIA/ CHOREA
>15 : WERNICKE LIKE
MRI: BASAL GANGLIA T2 HYPERINTENSITY
RX: BIOTIN 5-20MG/ DAY
THIAMINE 300-900MG /DAY
CEREBELLUM/TRACTS
SPINOCEREBELLAR ATAXIA
SCA1 (ATXN2 CAG)
OPHTHALMOPLEGIA
SPASTICITY/ SENSORY NEUROPATHY
SCA2 (ATXN2 CAG)
OPHTHALMOPLEGIA
SLOW SACCADES
SENSORY NEUROPATHY
SCA3 (ATXN3 CAG)
OPHTHALMOPLEGIA/ BULGING EYES
PARKINSONISM
SPASTICITY/ AMYOTROPHY
SCA 17 (TBP CAG REPEAT)
PSYCHIATRIC SYMPTOMS/ DEMENTIA
ATAXIA/ SPASTICITY/ CHOREA
PARKINSONISM
AUTONOMIC DYSFUNCTION
SUPRANUCLEAR GAZE PALSY
PHENOTYPE
PSP/ MSA/ HUNTINGTON'S DISEASE
SCA48/ SCAR16 (STUB1)
ATAXIA/ COGNITION
EXECUTIVE DYSFUNCTION
PSYCHIATRIC SYMPTOMS
HYPOGONADISM
OPHTHALMOPARESIS
DYSTONIA/ SPASTICITY/ CHOREA
MRI: DENTATE HYPERINTENSITY (T2)
CRAB SIGN
POSTERIOR VERMIS ATROPHY
AOA PHENOTYPE
ATAXIA TELANGIECTASIA
TELENGIECTASIA OVER EYES AND
SUN EXPOSED AREAS
OCULOMOTOR APRAXIA
DYSTONIA/ CHOREA/ MYOCLONUS
PARKINSONISM/ ATAXIA
TREMOR/ NEUROPATHY
LYMPHOMA/ LEUKEMIA, EARLY
SOLID TUMOUR, LATE
LAB: LOW IGA/ IGG
AOA1 (APTX)
AAGE OF ONSET 2-10YRS
OCULOMOTOR APRAXIA
DYSTONIA/ CHOREA/ ATAXIA
NEUROPATHY
LAB: ALBUMIN REDUCED
TOTAL CHOLESTEROL INCREASED
NORMAL FETO-PROTEIN
AOA2 (SETX)
AGE OF ONSET 3-30YRS
OCULOMOTOR APRAXIA
DYSTONIA/ CHOREA/ ATAXIA
NEUROPATHY
LAB: ALBUMIN REDUCED/ TOTAL CHOLESTEROL INCREASED
NCREASED IGA/ IGG/ ALPA FETO-PROTEIN
FRIEDREICH'S ATAXIA PHENOTYPE
FRIEDREICH'S ATAXIA (FXN)
ATAXIA/ DYSARTHRIA/ SCOLIOSIS
DIABETES (30%)
HEARING LOSS (20%)
HYPERTROPHIC CARDIOMYOPATHY ARRHYTHMIA/ CHF
LATE ONSET FRIEDREICH'S ATAXIA
(GAA REPEAT X25 GENE)
LOFA 25-40YRS/ VLOFA >40YRS
RETAINED REFLEXES/ SPASTICITY
MRI: CEREBELLAR ATROPHY LATE STAGES
SPINAL CORD ATROPHY
DENTATE IRON ACCUMULATION AND ATROPHY
ABETALIPOPROTEINAEMIA (MTTP)
DIARRHOEA
VIT-E/VIT-D/VIT-K DEFICIENCY
ATAXIA/ PERIPHERAL NEUROPATHY
RETINITIS PIGMENTOSA
ATAXIA WITH VITAMIN E DEFICIENCY (TTPA)
VIT-E DEFICIENCY
TITUBATION
ATAXIA/ PERIPHERAL NEUROPATHY
RETINITIS PIGMENTOSA/ MACULAR ATROPHY
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