SENSORY MOTOR NEUROPATHY
OCULOMOTOR APRAXIA
ATAXIA TELANGIECTASIA
TELANGIECTASIA OVER EYES AND SUN-EXPOSED AREAS
OCULOMOTOR APRAXIA
HYPOMETRIC SACCADES
DYSTONIA/ CHOREA/ MYOCLONUS
PARKINSONISM/ ATAXIA TREMOR/ NEUROPATHY
LYMPHOMA/ LEUKEMIA (EARLY)
SOLID TUMOUR (LATE)
LAB: LOW IGA/ IGG
AOA1 (APTX)
AOO 2-10YRS
OCULOMOTOR APRAXIA
DYSTONIA/ CHOREA/ ATAXIA
NEUROPATHY
LAB: ALBUMIN REDUCED
TOTAL CHOLESTEROL INCREASED
NORMAL ALFA FETOPROTEIN
AOA2 (SETX)
AGE OF ONSET 3-30YRS
OCULOMOTOR APRAXIA
DYSTONIA/ CHOREA/ ATAXIA
NEUROPATHY
LAB: ALBUMIN REDUCED
TOTAL CHOLESTEROL INCREASED
INCREASED IGA/ IGG/ ALPA FETOPROTEIN
AOA4
DYSPHAGIA
ANO5
DYSPHAGIA
NO OCULOMOTOR APRAXIA
CEREBROTENDINOSIS XANTHOMATOSIS
VARIABLE AGE OF PRESENTATION
COGNITIVE DECLINE
ATAXIA/ DYSTONIA/ PARKINSONISM
SPASTICITY/ NEUROPATHY
CATARACT/ PES CAVUS
XANTHOMAS ACHILLES TENDON
DIARRHOEA
MRI: T2/ FLAIR HYPERINTENSITIES
PERIVENTRICULAR
POSTERIOR LIMB INTERNAL CAPSULE
CEREBRAL PEDUNCLES
ANTERIOR PONS
RX: CHENODEOXYCHOLIC ACID 250MG TID
SCAN1
AGE OF ONSET <20YRS
PES CAVUS
SYNE1
AGE OF ONSET <40YRS
HYPOTONIA/ CEREBELLAR ATROPHY
MENTAL RETARDATION
CLUB FOOT/ MYOPATHY
CMT6B
PES CAVUS/ OPTIC ATROPHY
SPINOCEREBELLAR ATAXIA
SCA1 (ATXN2 CAG)
OPHTHALMOPLEGIA
SPASTICITY/ SENSORY NEUROPATHY
SCA2 (ATXN2 CAG)
OPHTHALMOPLEGIA
SLOW SACCADES
SENSORY NEUROPATHY
SCA3 (ATXN3 CAG)
ATAXIA/ PARKINSONISM/DYSTONIA
CPEO/ BULGING EYES
SPASTICITY/ AMYOTROPHY
FACIAL LINGUAL ACTION INDUCED FASCICULATIONS
SCA36 (NOP56 INTRONIC GGCCTG REPEAT)
ATAXIA/ AMYOTROPHY
HEARING LOSS
OTHERS
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
SENSORY NEUROPATHY
FRIEDREICH'S ATAXIA (FXN)
ATAXIA/ DYSARTHRIA/ SCOLIOSIS
DIABETES (30%)
HEARING LOSS (20%)
SENSORY GANGLIONOPATHY
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/ CPEO
ATAXIA WITH VITAMIN E DEFICIENCY (TTPA)
VIT-E DEFICIENCY
TITUBATION
ATAXIA/ PERIPHERAL NEUROPATHY
RETINITIS PIGMENTOSA/ MACULAR ATROPHY
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
CELIAC DISEASE
ATAXIA/ LEG MYOCLONUS
NEUROPATHY/ DIARRHOEA
GOBBI SYNDROME: CEC SYNDROME
CELIAC DISEASE/ SEIZURES/ OCCIPITAL CALCIFICATION
MRI: BILATERAL OCCIPITAL CALCIFICATIONS
LAB: ANTI TTG ANTIBODIES
FAHR SYNDROME
PARKINSONISM
NEUROPSYCHIATRIC FEATURES
SEIZURES/ CHOREA
DORSAL ROOT GANGLIA
CELIAC DISEASE
ATAXIA/ LEG MYOCLONUS
NEUROPATHY/ DIARRHOEA
GOBBI SYNDROME: CEC SYNDROME
CELIAC DISEASE/ SEIZURES/ BILATERAL
MRI: OCCIPITAL CALCIFICATIONS
LAB: ANTI TTG ANTIBODIES
FRIEDREICH'S ATAXIA (FXN)
ATAXIA/ DYSARTHRIA/ SCOLIOSIS
DIABETES (30%)
HEARING LOSS (20%)
SENSORY GANGLIONOPATHY
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
SJOGREN
DRY EYES/ DRY MOUTH
PYRIDOXINE (VIT B6) TOXICITY
PARANEOPLASTIC
ANTI- HU AB
HIV INFECTION
POLG1 (NUCLEAR DNA)
MIRAS (POLG1)
CHILDHOOD: ENCEPHALOPATHY
JUVENILE: EPILEPSY/ MIGRAINE
ADULT ONSET: ATAXIA NEUROPATHY
SANDOS (POLG1)
SENSORY ATAXIA/ DYSARTHRIA/ OPHTHALMOPLEGIA
PARKINSONISM
COMPOUND HETEROZYGOUS MUTATION CAN HAVE LATE PRESENTATION, 80YRS
MEMSA (POLG1)
MYOCLONIC EPILEPSY/ MYOPATHY
SENSORY ATAXIA
MINGIE (POLG1)
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY
GASTROPARESIS/ ATAXIA
NEUROPATHY/ MYOPATHY
LEUKOENCEPHALOPATHY
OPTHALMOPARESIS/ PTOSIS
SCAE (POLG1)
OLD TERMINOLOGY
NOW INCLUDES MEMSA
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
KEARNS SAYRE SYNDROME
AGE OF ONSET <20YRS
RETINITIS PIGMENTOSA/ OPTIC ATROPHY
ATAXIA NEUROPATHY
SHORT STATURE/ DEAFNESS
DIABETES/ HYPOTHYROIDISM
LAB: CONDUCTION BLOCK/ CSF PROTEIN INCREASED
MERRF
MYOCLONUS/ GTCS
ATAXIA/ NEUROPATHY/ MYOPATHY
NARP (MT-ATP6)
NEUROPATHY/ ATAXIA
RETINITIS PIGMENTOSA
COQ10 DEF (APTX/ADCK3)
HYPOGONADISM/SEIZURES
PES CAVUS/ MYOPATHY
COQ8A ATAXIA
EPILEPSY/COGNITION
DYSTONIA/ MYOCLONUS
CEREBELLAR ATROPHY
LARGEST SERIES 58 PTS
MRI: DENTATE/ PONTINE HYPER
RX: COQ10
ATAXIA-MND
SYNE1
AGE OF ONSET <40YRS
ALS PHENOTYPE (20%)
PURE UMN(30%)
PURE LMN(10%)
STRABISMUS (ESOTROPIA)
SQUARE WAVE JERKS
OPHTHALMOPARESIS
QUEBEC: FA > ARSACS > SYNE1
GM2 TAY SACHS
ATAXIA, MND, SPASTICITY
STIMULUS SENSITIVE MYOCLONUS
CHERRY RED SPOT FUNDUS
CAN PRESENT IN LATE ADULTHOOD
ANO10
TORTUOUS CONJUNCTIVAL VESSELS
COGNITIVE DECLINE
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DEMYELINATING NEUROPATHY
REFSUM (PHYN/PEX7)
ATAXIA/ 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
PHARC SYNDROME (ABHD12)
POLYNEUROPATHY (DEMYELINATING)
HEARING LOSS/ ATAXIA
RETINITIS PIGMENTOSA/ CATARACT
PES CAVUS
REFSUM PHENOTYPE
LAB: PHYTANIC ACID LEVELS NORMAL
SCP2 MUTATIONS
FOCAL OMD/ TORTICOLLIS
ATAXIA/ DYSTONIA/ MOTOR NEUROPATHY
MRI: CEREBRAL/ PONS WHITE MATTER HYPERINTENSITY
BASAL GANGLIA IRON DEPOSITION
ARSACS (SACS)
RETINAL NERVE FIBER AND GANGLION LAYER THICKENING
PERIPAPILLARY RETINAL STRIATIONS
METACHROMATIC LEUKODYSTROPHY (ARSA/ PSAP)
DEMYELINATING PERIPHERAL NEUROPATHY
HYPER-REFLEXIA
ATAXIA/ SPASTICITY/ COGNITION
MRI: PERIVENTRICULAR WMH/ TIGROID PATTERN
KRABBE (GALC)
DEMYELINATING PERIPHERAL NEUROPATHY
ATAXIA/ SPASTICITY/ COGNITION
MRI: CST/ MCP HYPERINTENSITIES
ADRENOMYELONEUROPATHY
MOST COMMON PHENOTYPE OF ALD
SPASTICITY/ VIBRATION LOSS
PERIPHERAL NEUROPATHY
PREDOMINANTLY AXONAL
CAN BE DEMYELINATING
CEREBROTENDINOSIS XANTHOMATOSIS
VARIABLE AGE OF PRESENTATION
COGNITIVE DECLINE
ATAXIA/ DYSTONIA/ PARKINSONSIM
SPASTICITY/ NEUROPATHY/ PES CAVUS
CATARACT/ DIARRHOEA
MRI: POSTERIOR LIMB INTERNAL CAPSULE
CEREBRAL PEDUNCLES
ANTERIOR PONS HYPERINTENSITY
RX: CHENODEOXYCHOLIC ACID 250MG TID
CMT4
CHILDHOOD
FRIEDREICH ATAXIA PHENOTYPE
ATAXIA/ DEMYELINATING POLYNEUROPATHY
THICKENED CRANIAL NERVES (5TH CN)
MYOKYMIA/ PES CAVUS/ SCOLIOSIS
HEARING LOSS (10%)