CORTICAL/ SUBCORTICAL
NEURONAL CEROID LIPOFUSCINOSIS (TPP1)
AGE OF ONSET <20YRS
DEMENTIA/ SEIZURES/VISION LOSS
PURE ATAXIA PRESENTATION
MRI: CEREBELLAR ATROPHY
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/ MYOCLONIC/ GTCS/ ABSENCE
ATONIC SEIZURES
CREUTZFELDT JACKOB 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/
PROGRESSIVE MYOCLONIC EPILEPSY
FACE/ LIMB DYSTONIA
ATAXIA/ SPASTICITY
ALEXANDER DISEASE (GFAP)
ONSET CAN BE IN LATE ADULTHOOD
BRAIN STEM SIGNS
DYSARTHRIA/ DYSPHONIA
PARKINSONISM/ ATAXIA
PALATAL MYOCLONUS
AUTONOMIC DYSFUNCTION
KCNC1 MUTATIONS
ADOLESCENCE OR EARLY ONSET
ATAXIA/ MYOCLONUS (CORTICAL)
MRI: CEREBELLAR ATROPHY
PROMINANT CORPUS CALLOSUM
KCNN2 MUTATIONS
AD INHERITENCE
COGNITION/AUTISM
ATAXIA/DYSTONIA/ PARKINSONISM
DISTAL MYOCLONUS (TREMOR LIKE)
OCULAR
OCULAR SIGNS
CHERRY RED SPOT
SIALIDOSIS
AGE OF ONSET <20YRS
ATAXIA/ VISION
MRI: SUPERIOR VERMIAN ATROPHY
CEREBELLAR FOLIA GLIOSIS
PERI TRIGONE HYPERINTENSITY
GLOBUS PALLIDUS HYPOINTENSITY
THIN OPTIC CHIASMA
GM2 GANGLIOSIDOSIS (TAY SACHS)
DEMENTIA-SEIZURES
ATAXIA-PARKINSONISM
SLOW MND/ SPASTICITY
STIMULUS SENSITIVE MYOCLONUS
CHERRY RED SPOT FUNDUS
LATE ONSET: MILD SYMPTOMS IN 6-7 DECADE
RETINOPATHY
NEURONAL CEROID LIPOFUSCINOSIS (TPP1)
AGE OF ONSET <20YRS
DEMENTIA/ SEIZURES/VISION LOSS
PURE ATAXIA PRESENTATION
MRI: CEREBELLAR ATROPHY
OPTIC ATROPHY
POLG
ATAXIA/ NEUROPATHY
CATARACT/ OPTIC ATROPHY
PES CAVUS
NEURONAL CEROID LIPOFUSCINOSIS (TPP1)
AGE OF ONSET <20YRS
DEMENTIA/ SEIZURES/VISION LOSS
PURE ATAXIA PRESENTATION
MRI: CEREBELLAR ATROPHY
AFG3L2
SPASTICITY/ ATAXIA
OPTIC ATROPHY
OPHTHALMOPARESIS/ PTOSIS
CATARACT
SIALIDOSIS
AGE OF ONSET <20YRS
ATAXIA/ VISION
MRI: SUPERIOR VERMIAN ATROPHY
CEREBELLAR FOLIA GLIOSIS
PERI TRIGONE HYPERINTENSITY
GLOBUS PALLIDUS HYPOINTENSITY
THIN OPTIC CHIASMA
POLG1
ATAXIA/ NEUROPATHY
CATARACT/ OPTIC ATROPHY
PES CAVUS
CD-GLYCOSYLATION
STRABISMUS
TELANGIECTASIA
ATAXIA TELANGIECTASIA (ATM)
TELENGIECTASIA
(EYES/ SUN-EXPOSED AREAS)
OCULOMOTOR APRAXIA
DYSTONIA/ CHOREA/ MYOCLONUS
PARKINSONISM/ ATAXIA
TREMOR/ NEUROPATHY
LYMPHOMA/ LEUKEMIA (EARLY)
SOLID TUMOUR (LATE)
LAB: LOW IGA/ IGG
EYE MOVEMENTS
PTOSIS OCULOMOTOR APRAXIA
AFG3L2
SPASTICITY/ ATAXIA
OPTIC ATROPHY
OPHTHALMOPARESIS/ PTOSIS
OCULOMOTOR APRAXIA
ATAXIA TELANGIECTASIA (ATM)
TELENGIECTASIA
(EYES/ SUN EXPOSED AREAS)
OCULOMOTOR APRAXIA
DYSTONIA/ CHOREA/ MYOCLONUS
PARKINSONISM/ ATAXIA
TREMOR/ NEUROPATHY
LYMPHOMA/ LEUKEMIA (EARLY)
SOLID TUMOUR (LATE)
LAB: LOW IGA/ IGG
CPEO
POLG1
ATAXIA/ NEUROPATHY
CATARACT/ OPTIC ATROPHY
PES CAVUS
STUB1(ARSCA 16/ SCA48)
HYPOGONADISM
SLOW SACCADES
SCA2
ATAXIA/ NEUROPATHY/ PARKINSONISM
NEUROPATHY
OPSOMYOCLONUS
NEUROBLASTOMA
LAB: URINE VMA/ METANEPHRINE
RI AB
AGE OF ONSET >40YRS
OCULOPALATAL MYOCLONUS
GAD AB
PHENOTYPE
ATAXIA/ PARKINSONISM/ PSP
STIFF PERSON SYNDROME
STARTLE MYOCLONUS/ PERM
HEAD RETRACTION JERK
OPSOCLONUS-MYOCLONUS
ORTHOSTATIC TREMOR
LIMBIC ENCEPHALITIS/ MTLE
ABNORMAL SACCADES
VELOCITY/LATENCY/ACCURACY
SACCADE INITIATION/ EARLY UPGAZE PALSY
NYSTAGMUS
DOWN/ UP BEAT NYSTAGMUS
PERIODIC ALTERNATING NYSTAGMUS
FLUTTER/OPSOCLONUS/ STIFF EYES
>50YRS: 8%+VE GAD POSITIVE
NMDA AB
MUTISM/ AUTONOMIC DYSFUNCTION
CENTRAL HYPOVENTILATION
STEREOTYPE (PRESENT IN SLEEP)
FACE DYSKINESIA
LIMB/TRUNK DYSKINESIA
PSYCHOSIS PRESENTATION
FEVER/ HEADACHE/ VOMITING
POST HSV/ VZV INFECTION
NEOPLASIA: OVARY/ BREAST
SMALL CELL LUNG CARCINOMA
GABA-B RECEPTOR AB
SEIZURES/ MYORHYTHMIA
GLYCINE-RECEPTOR AB
HYPEREKPLEXIA/ PERM
NYSTAGMUS
POLG1
ATAXIA/ NEUROPATHY
CATARACT/ OPTIC ATROPHY
PES CAVUS
STUB1(ARSCA 16/ SCA48)
ATAXIA/ SPASTICITY
HYPOGONADISM
SYSTEMIC
HEPATOSPLEENOMEGALY
CELIAC DISEASE
ATAXIA/ LEG MYOCLONUS
NEUROPATHY/ DIARRHOEA
GOBBI SYNDROME: CEC SYNDROME
CELIAC DISEASE/ SEIZURES
MRI: BILATERAL OCCIPITAL CALCIFICATIONS
LAB: ANTI TTG ANTIBODIES
RENAL
ACTION MYOCLONUS RENAL FAILURE (SCARB2)
GLOMERULAR DYSFUNCTION
PARKINSONISM
MYOCLONUS
HYPOGONADISM
STUB1 (ARSCA 16/ SCA48)
ATAXIA/ SPASTICITY
HYPOGONADISM
COQ10 DEFICIENCY (ADCK3)
ATAXIA/ NEUROPATHY
BASAL GANGLIA
LYSOSOMAL
NIEMANN PICK DISEASE TYPE C
VSGP/ PARKINSONISM
CATAPLEXY
ATAXIA/ DYSTONIA
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CEREBELLUM/ TRACTS
SPINOCEREBELLAR ATAXIA
SCA2 (ATXN2 CAG)
OPHTHALMOPLEGIA
SLOW SACCADES
SENSORY NEUROPATHY
SCA14 (PRKCG)
AGE OF ONSET: 3-70YRS
COGNITION/ AXIAL MYOCLONUS
PARKINSONISM/ HEARING LOSS (<10%)
STUB1(ARSCA 16/ SCA48)
DYSTONIA/ HYPOGONADISM
AUTOIMMUNE
KELCH LIKE 11 AB
PALATAL MYOCLONUS / ATAXIA
BRAIN STEM HYPER-INTENSITY
LYSOSOMAL (CBL)
SIALIDOSIS
AGE OF ONSET <20YRS
ATAXIA/ VISION
MRI: SUPERIOR VERMIS ATROPHY
CEREBELLAR FOLIA GLIOSIS
PERI TRIGONE HYPERINTENSITY
GLOBUS PALLIDUS HYPOINTENSITY
THIN OPTIC CHIASMA
NCL (TPP1)
AGE OF ONSET <20YRS
DEMENTIA/ SEIZURES/VISION LOSS
PURE ATAXIA PRESENTATION
MRI: CEREBELLAR ATROPHY
GM2 GANGLIOSIDOSIS (TAY SACHS)
DEMENTIA-SEIZURES
ATAXIA-PARKINSONISM
SLOW MND/ SPASTICITY
STIMULUS SENSITIVE MYOCLONUS
CHERRY RED SPOT FUNDUS
LATE ONSET: MILD SYMPTOMS IN 6-7 DECADE
CELIAC DISEASE
ATAXIA/ LEG MYOCLONUS
NEUROPATHY/ DIARRHOEA
GOBBI SYNDROME: CEC SYNDROME
CELIAC DISEASE/ SEIZURES
MRI: BILATERAL OCCIPITAL CALCIFICATIONS
LAB: ANTI TTG ANTIBODIES
SPINAL CORD/ TRACTS
SPASTIC PARAPARESIS
AFG3L2
SPASTICITY/ ATAXIA/DYSTONIA
OPTIC ATROPHY
SPAX5/ ARSP5/ SCA28
SPASTIC ATAXIA
PERIPHERAL NERVES
NEUROPATHY
NORTH SEA PME (GOSR2)
SEIZURES/ DROP ATTACKS
SCOLIOSIS/ PES CAVUS
MITOCHONDRIAL
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 A LATE PRESENTATION
MEMSA (POLG1)
MYOCLONIC EPILEPSY/ MYOPATHY
SENSORY ATAXIA
MINGIE (POLG1)
MITOCHONDRIAL NEURO-GASTROINTESTINAL 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
FRIEDREICH ATAXIA PHENOTYPE
ATAXIA WITH VITAMIN E DEFICIENCY (TTPA)
VIT-E DEFICIENCY
TITUBATION
ATAXIA/ PERIPHERAL NEUROPATHY
RETINITIS PIGMENTOSA/ MACULAR ATROPHY
AOA PHENOTYPE
ATAXIA TELANGIECTASIA
TELENGIECTASIA OVER EYES
OR SUN EXPOSED AREAS
OCULOMOTOR APRAXIA
DYSTONIA/ CHOREA/ MYOCLONUS
PARKINSONISM/ ATAXIA
TREMOR/ NEUROPATHY
LYMPHOMA/ LEUKEMIA (EARLY)
SOLID TUMOUR (LATE)
LAB: LOW IGA/ IGG