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
​