CEREBELLUM/ TRACTS
SENSORY MOTOR NEUROPATHY
OCULOMOTOR APRAXIA
ATAXIA TELANGIECTASIA
TELENGIECTASIA OVER
EYES/ SUN EXPOSED AREAS
OCULOMOTOR APRAXIA/ HYPOMETRIC
DYSTONIA/ CHOREA/ MYOCLONUS
PARKINSONISM/ ATAXIA / TREMOR/ NEUROPATHY
LYMPHOMA/ LEUKEMIA (EARLY)
SOLID TUMOUR (LATE)
LAB: LOW IGA/ IGG
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AOA1 (APTX)
AGE OF ONSET 2-10YRS
OCULOMOTOR APRAXIA
DYSTONIA/ CHOREA/ ATAXIA
NEUROPATHY
LAB: ALBUMIN REDUCED
TOTAL CHOLESTEROL INCREASED
NORMAL ALFA FETO-PROTEIN
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AOA2 (SETX)
AGE OF ONSET 3-30YRS
OCULOMOTOR APRAXIA
DYSTONIA/ CHOREA/ ATAXIA
NEUROPATHY
LAB: ALBUMIN REDUCED
TOTAL CHOLESTEROL INCREASED
INCREASED IGA/ IGG/ ALPA FETO-PROTEIN
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MITOCHONDRIAL
POLG1 (NUCLEAR DNA)
MIRAS (POLG1)
CHILDHOOD: ENCEPHALOPATHY
JUVENILE: EPILEPSY/ MIGRAINE
ADULT ONSET: ATAXIA NEUROPATHY
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SANDOS (POLG1)
SENSORY ATAXIA/ DYSARTHRIA/ OPHTHALMOPLEGIA
PARKINSONISM
COMPOUND HETEROZYGOUS MUTATION CAN HAVE LATE PRESENTATION, 80YRS
MEMSA (POLG1)
MYOCLONIC EPILEPSY/ MYOPATHY
SENSORY ATAXIA
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MINGIE (POLG1)
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY
GASTROPARESIS/ ATAXIA
NEUROPATHY/ MYOPATHY
LEUKOENCEPHALOPATHY
OPTHALMOPARESIS/ PTOSIS
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SCAE (POLG1)
OLD TERMINOLOGY
NOW INCLUDES MEMSA
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MITOCHONDRIAL DNA
LEIGH SYNDROME
MITOCHONDRIAL/ NUCLEAR GENES INVOLVED IN OXIDATIVE PHOSPHORYLATION (COMPLEX 1-4)
COGNITION/ ATAXIA/CHOREA
OPTIC ATROPHY/ RETINITIS PIGMENTOSA
STRABISMUS/ OPHTHALMOPARESIS
NEUROPATHY/ MYOPATHY
SHORT STATURE/ CARDIOMYOPATHY
ADULT ONSET SUBACUTE NECROTIZING ENCEPHALOPATHY:
VISION PROBLEM/ ATAXIA
SENSORY NEUROPATHY
FRIEDREICH'S ATAXIA (FXN)
ATAXIA/ DYSRTHRIA/ SCOLIOSIS
DIABETES (30%)
HEARING LOSS (20%)
HYPERTROPHIC CARDIOMYOPATHY ARRHYTHMIA/ CHF
LOFA 25-40YRS
VLOFA >40YRS
MRI: CEREBELLAR ATROPHY LATE STAGES
SPINAL CORD ATROPHY
DENTATE IRON ACCUMULATION AND ATROPHY
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ABETALIPOPROTEINAEMIA (MTTP)
DIARRHOEA/ VIT-E/ VIT-D/ VIT-K DEFICIENCY
ATAXIA/ PERIPHERAL NEUROPATHY
RETINITIS PIGMENTOSA
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ATAXIA WITH VITAMIN E DEFICIENCY (TTPA)
VIT-E DEFICIENCY
TITUBATION
ATAXIA/ PERIPHERAL NEUROPATHY
RETINITIS PIGMENTOSA/ MACULAR ATROPHY
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CANVAS (RFC1-AAGGG)
AGE OF ONSET <50YRS
CEREBELLAR/ VESTIBULAR/ SENSORY ATAXIA
ABNORMAL VVOR AND PURSUIT
ABNORMAL VVOR :
HEAD MOVED AT 0.5HZ WITH VISION FIXED AT EARTH FIXED TARGET. SACCADIC EYE MOVEMENTS SEEN AS VESTIBULAR AND PURSUIT BOTH ARE ABNORMAL
SENSORY MOTOR NEUROROPATHY
GANGLIONOPATHY
COUGH/AUTONOMIC DYSFUNCTION
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DEMYELINATING NEUROPATHY
REFSUM (PHYN/PEX7)
DEAFNESS/ ANOSMIA
RETINITIS PIGMENTOSA
ICHTHIOSIS/ SENSORY NEUROPATHY
DEMYELINATING NEUROPATHY
PLASMA PHYTANIC ACID LEVELS RAISED
RX: AVOID PHYTANIC ACID
HIGH CALORIC DIET, PREVENT MOBILIZATION OF PHYTANIC ACID FOR ADIPOSE TISSUE
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SCP2 MUTATIONS
FOCAL OMD/ TORTICOLLIS
ATAXIA/ DYSTONIA/ MOTOR NEUROPATHY
MRI: CEREBRAL/ PONS WHITE MATTER HYPERINTENSITY
BASAL GANGLIA IRON DEPOSITION
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BASAL GANGLIA
BRAIN MINERALIZATION DISORDERS
MPAN
DYSTONIA/ PARKINSONISM
SPASTICITY
BILATERAL OPTIC ATROPHY
AXONAL NEUROPATHY
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COPAN (COASY)
SLOWLY PROGRESSIVE
DYSTONIA/ PARKINSONISM
SPASTICITY/ AXONAL NEUROPATHY
MRI: EYE OF TIGER SIGN
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NEUROACANTHOCYTOSIS SYNDROMES
CHOREA-ACANTHOCYTOSIS (VPS13A)
AGE OF ONSET 20-60YRS
ACTION TONGUE DYSTONIA
FEEDING DYSTONIA/ TICS
RUBBER-MAN GAIT/DROP ATTACK
NEUROPATHY/ MYOPATHY
PSYCHIATRIC MANIFESTATIONS/ SEIZURE
HEPATO-SPLEENOMEGALY
LAB: CPK/ LFT ELEVATED
ACANTHOCYTES TO BE SEEN IN 1:1 DILUTION IN NORMAL SALINE WITH PHASE CONTRAST MICROSCOPE
ACANTHOCYTE CAN BE ABSENT
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CORTICAL/ SUBCORTICAL
PELIZAEUS MERZBACHER DISEASE (PLP1)
SPASTIC ATAXIA
SPG2: PURE SPASTIC PARAPARESIS
MULTIFOCAL DEMYELINATING NEUROPATHY
COGNITION/ TITUBATION
DYSTONIA/ CHOREA OF EXTREMITIES
HEAD AND UPPER LIMB TREMOR
SURVIVAL TILL LATE ADULTHOOD
MRI: HYPOMYELINATION
INTERNAL CAPSULE/ OPTIC RADIATION
PROXIMAL CORONAL RADIATA
CEREBELLAR ATROPHY
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