CEREBELLUM/ TRACTS
AOA PHENOTYPE
ATAXIA TELANGIECTASIA (ATM)
TELANGIECTASIA
(EYES/ SUN EXPOSED AREAS)
OCULOMOTOR APRAXIA
DYSTONIA/ CHOREA/ MYOCLONUS
PARKINSONISM/ ATAXIA
TREMOR/ NEUROPATHY
LYMPHOMA/ LEUKAEMIA (EARLY)
SOLID TUMOUR (LATE)
CAN DEVELOP MELANOMA
LAB: LOW IGA/ IGG
​
AOA1 (APTX)
AGE OF ONSET 2-10YRS
OCULOMOTOR APRAXIA
DYSTONIA/ CHOREA/ ATAXIA
NEUROPATHY
LAB: REDUCED ALBUMIN
INCREASED TOTAL CHOLESTEROL
NORMAL FETOPROTEIN
​
AOA2 (SETX)
AGE OF ONSET 3-30YRS
OCULOMOTOR APRAXIA
DYSTONIA/ CHOREA/ ATAXIA
NEUROPATHY
LAB: REDUCED ALBUMIN
INCREASED TOTAL CHOLESTEROL
INCREASED IGA/ IGG/ ALPA FETOPROTEIN
​
CORTICAL/ SUBCORTICAL
GAUCHER DISEASE (GBA)
GD1: ADULT GD
VARIED AGE PRESENTATION
COGINITION/ PARKINSONISM
TREMOR/ ATAXIA
INCREASED RISK FOR PD (10x)
POOR RESPONSE TO LEVODOPA
NO EYE MOVEMENT ABNORMALITY
ACUTE PAINFUL BONE CRISIS
LAB: ANAEMIA/ PANCYTOPENIA
THROMBOCYTOPENIA
HEPATOSPLEENOMEGALY
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
​
PELIZAEUS MERZBACHER DISEASE (PLP1)
ONSET IN CHILDHOOD
SURVIVAL TILL LATE ADULTHOOD
SPASTIC ATAXIA
SPG2 (PURE SPASTIC PARAPARESIS)​
MULTIFOCAL DEMYELINATING NEUROPATHY
COGNITION/ TITUBATION
DYSTONIA/ CHOREA OF EXTREMITIES
HEAD AND UPPER LIMB TREMOR
MRI: HYPOMYELINATION
INTERNAL CAPSULE/ OPTIC RADIATION
PROXIMAL CORONAL RADIATA
CEREBELLAR ATROPHY
​
DRPLA
<20YS: ATAXIA/ MYOCLONUS
SEIZURES/ CHOREA/ DYSTONIA
>20YRS: ATAXIA/ COGNITION
PSYCHIATRIC MANIFESTATIONS
CHOREA/ DYSTONIA
MRI: CEREBELLAR/ BRAIN STEM 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
​
SCA14 (PRKRA)
DYSTONIA CAN BE DOMINANT PHENOTYPE
AXIAL MYOCLONUS
SCA 17 (TBP CAG REPEAT)
PSYCHIATRIC SYMPTOMS/ DEMENTIA
ATAXIA/ SPASTICITY/ CHOREA
PARKINSONISM
AUTONOMIC DYSFUNCTION
SUPRANUCLEAR GAZE PALSY
PHENOTYPE
PSP/ MSA/ HUNTINGTON'S DISEASE
​
BASAL GANGLIA
BRAIN MINERALIZATION DISORDERS
PLAN (PLA2G6)
DYSTONIA/ PARKINSONISM
ATAXIA/ SPASTICITY
LEVODOPA-INDUCED EARLY DYSKINESIA
INVOLVING LOWER FACE
TRUNCAL DYSTONIA
PHENOTYPES:
DYSTONIA PARKINSONISM
SPASTIC PARAPARESIS
CEREBELLAR ATAXIA
RX: LEVODOPA PARTIALLY RESPONSIVE
​
WILSON DISEASE
LIVER/ NEUROLOGICAL/ PSYCHIATRY
DYSTONIA/ CHOREA/ PARKINSONISM
DEPRESSION/ OCD/ PHOBIAS
PROTEINURIA/ ARTHRITIS/SUNFLOWER CATARACT
CARDIOMYOPATHY/ ARRHYTHMIAS
​
ACERULOPLASMINEMIA
AGE OF ONSET 30-70YRS
OROFACIAL DYSTONIA/ CERVICAL DYSTONIA
COGNITIVE DECLINE/ ATAXIA/ TREMOR/ CHOREA
PARKINSONISM (20%)
DIABETES MELLITUS/ LIVER DYSFUNCTION
RETINAL DEGENERATION
LAB: ABSENT CERULOPLASMIN
HETEROZYGOUS: MODERATELY REDUCED LEVEL
INCREASED FERRITIN
RX: DEFERIPRONE STARTING DOSE 15MG/KG/DAY
TWO DIVIDED DOSES
CAN TITRATE TO MAX 50MG/KG/DAY
PHLEBOTOMY 300ML EVERY 15 DAYS
​
NEUROFERRITINOPATHY
ORO-MANDIBULAR DYSKINESIA (85%)
JAW DYSTONIA/ BLEPHAROSPASM
FOCAL LOWER LIMB CHOREA /DYSTONIA
ACUTE BALLISMUS
LESS COMMON: ATAXIA/ PARKINSONISM/ TICS/TREMOR
LIP-SMACKING/ WRITER'S CRAMP
FRONTAL SUBCORTICAL COGNITIVE DYSFUNCTION
​
KUFOR RAKEB SYNDROME (ATP13A2)
PARK9/ SPG78
COGNITION/ PARKINSONISM/ VSGP
VISUAL HALLUCINATION
OCULOGYRIC CRISIS
SPG78: LATE SPASTICITY WITHOUT PARKINSONISM
FACIAL-FAUCIAL-FINGER-MYOCLONUS
​
FAHR'S SYNDROME
NEUROPSYCHIATRIC/ SEIZURES/ HEADACHE
PARKINSONISM/ DYSTONIA/ CHOREA
ATAXIA/ TREMOR
SLC20A2
COGNITION/ HEADACHE/ SEIZURES
PARKINSONISM
PDGFB
COGNITION/ HEADACHE/ SEIZURES
PARKINSONISM/ ATAXIA/ CHOREA
PDGFRB
COGNITION/ HEADACHE/ SEIZURES
PARKINSONISM
XPR1
COGNITION/ HEADACHE
PARKINSONISM/ ATAXIA
MYORG
COGNITION/ PARKINSONISM/ ATAXIA
JAM2
COGNITION/ PARKINSONISM/ ATAXIA/ DYSTONIA
MRI: CALCIFICATION
BG/ THALAMUS/ CEREBELLUM/ WM
MYORG: CENTRAL PONS CALCIFICATION
LYSOSOMAL DISORDERS
GM1 GANGLIOSIDOSIS
TYPE 1 (INFANTILE)
COGNITION/ SEIZURES
CORNEAL OPACITY
TYPE 2 (JUVENILE)
COGNITION/ DYSTONIA
ORGANOMEGALY/ CHERRY RED SPOT
TYPE 3 (ADULT)
DYSTONIA/ SPINAL BONY ABNORMALITY
ANGIOKERATOMA (TRUNK)
LIKE IN FABRY'S DISEASE
​
GM2 GANGLIOSIDOSIS
OCCASIONAL DYSTONIA
​
NIEMANN PICK C DISEASE
VSGP/ GELASTIC CATAPLEXY
ATAXIA/ DYSTONIA/ CHOREA
HEPATOSPLEENOMEGALY
THROMBOCYTOPENIA
​
CHEDIAK HIGASHI DISEASE (LYST)
AGE OF ONSET 20-40YRS
LYSOSOMAL TRAFFIC REGULATOR PROTEIN
ALBINISM/ INFECTIONS/ BLEEDING/
PARTIAL ALBINISM/ OCULAR ALBINISM
PARKINSONISM/ DYSTONIA/ ATAXIA/ NEUROPATHY
CEREBELLUM/ NEUROPATHY
FRIEDREICH ATAXIA PHENOTYPE
FRIEDREICH'S ATAXIA (FXN)
ATAXIA/ DYSARTHRIA/ SCOLIOSIS
DIABETES (30%)
HEARING LOSS (20%)
HYPERTROPHIC CARDIOMYOPATHY ARRHYTHMIA/ CHF
LOFA 25-40YRS
VLOFA >40YRS
FRIEDREICH'S ATAXIA WITH RETAINED REFLEXES
MRI: CEREBELLAR ATROPHY LATE STAGES
SPINAL CORD ATROPHY
DENTATE IRON ACCUMULATION AND ATROPHY
​
ABETALIPOPROTEINAEMIA (MTTP)
DIARRHOEA/ VITE,D, K DEFICIENCY
ATAXIA/ PERIPHERAL NEUROPATHY
RETINITIS PIGMENTOSA
​
ATAXIA WITH VITAMIN E DEFICIENCY (TTPA)
VIT E DEFICIENCY
TITUBATION
ATAXIA/ PERIPHERAL NEUROPATHY
RETINITIS PIGMENTOSA/ MACULAR ATROPHY
​
CANVAS (RFC1-AAGGG)
AGE OF ONSET < 70YRS
CEREBELLAR/ VESTIBULAR/ SENSORY ATAXIA
ABNORMAL VOR 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 NEURONOPATHY/ GANGLIONOPATHY
COUGH/AUTONOMIC DYSFUNCTION
MRI: DORSAL AND ANTERIOR VERMIS ATROPHY
MITOCHONDRIAL DISORDERS
POLG1 (NUCLEAR DNA)
MIRAS (POLG1)
CHILDHOOD: ENCEPHALOPATHY
JUVENILE: EPILEPSY/ MIGRAINE
ADULT: ONSET ATAXIA NEUROPATHY
​
SANDOS (POLG1)
SENSORY ATAXIA/ DYSARTHRIA
OPHTHALMOPLEGIA
PARKINSONISM (SANDOS)
COMPOUND HETEROZYGOUS MUTATION
CAN PRESENT IN LATE ADULTHOOD
RX: DOPAMINE AGONIST/ LEVODOPA
​
MEMSA (POLG1)
MYOCLONIC EPILEPSY
SENSORY ATAXIA
MYOPATHY
​
MINGIE (POLG1)
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY
GASTROPARESIS/ ATAXIA
LEUKOENCEPHALOPATHY
OPTHALMOPARESIS/ PTOSIS
NEUROPATHY/ MYOPATHY
​
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
​
PDHD (PDHA1)
DYSTONIA/ ATAXIA
FIXED/ PAROXYSMAL
RX: THIAMINE 100 -600 MG /DAY
KETOGENIC DIET
​
KEARN SAYRE SYNDROME
AGE OF ONSET <20YRS
RETINITIS PIGMENTOSA/ OPTIC ATROPHY
ATAXIA NEUROPATHY
SHORT STATURE/ DEAFNESS
DIABETES/ HYPOTHYROIDISM
CONDUCTION BLOCK/ CSF PROTEIN INCREASED
​
MERRF
MYOCLONUS/ GENERALIZED SEIZURES
ATAXIA/ NEUROPATHY/ MYOPATHY
​
NARP (MT-ATP6)
NEUROPATHY/ ATAXIA
RETINITIS PIGMENTOSA
​
COQ10 DEF (APTX/ADCK3)
HYPOGONADISM/SEIZURES
PES CAVUS/ MYOPATHY
Rx: COQ10 30MG/KG/DAY
THREE DIVIDED DOSES
​
COQ8A ATAXIA
EPILEPSY/DYSTONIA/ MYOPATHY
MENTAL RETARDATION
CEREBELLAR ATROPHY
MRI: DENTATE/ PONTINE HYPERINTENSITY
Rx: COQ10 30MG/KG/DAY
THREE DIVIDED DOSES
PRIMARY DYSTONIA
H-ABC/ DYT4 (TUBB4)
HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM
DYSTONIA/ ATAXIA/ COGNITION
WHISPERING DYSPHONIA
MICROCEPHALY/ SPASTICITY
​
DYT12 (ATP1A3)
ROPD
AGE OF ONSET 4- 55 YRS
DYSTONIA WITH PARKINSONISM OVER DAYS TO WEEKS
TRIGGER: FEVER/ STRESS/ ALCOHOL
ABRUPT ONSET THEN STABILIZES
MILD IMPROVEMENT POSSIBLE
POOR LEVODOPA RESPONSE
CAPOS
CEREBELLAR ATAXIA/ PES CAVUS
OPTIC ATROPHY/ HEARING LOSS
ALTERNATING HEMIPLEGIA OF CHILDHOOD
PAROXYSMAL
HEMIPLEGIA/ QUADRIPARESIS/ DYSTONIA
​
AMINO-ORGANIC ACIDURIA
L2 H-GLUTARIC ACIDURIA
MACROCEPHALY
HIGH RISK OF MALIGNANCY
SPASTICITY/ ATAXIA/ DYSTONIA
PARKINSONISM
MRI: HYPERINTENSITY (T2/ FLAIR)
CAUDATE/ PUTAMEN
GLOBUS PALLIDUS/ DENTATE
CENTRIPETAL WHITE MATTER
U-FIBRE INVOLVED FIRST
CEREBELLAR WHITE MATTER
MACROCEPHALY
ABNORMAL DAT SCAN
RX: LEVODOPA/ RIBOFLAVIN
​
GLUTARIC ACIDURIA (GCDH)
COGNITION/ ATAXIA/ DYSTONIA
PARKINSONISM
LAB: URINE ORGANIC ACID
MRI: OPEN OPERCULA/ SDH/ WMH
BASAL GANGLIA HYPERINTENSITY (T2)
RX: LOW LYSINE DIET/ CARNITINE SUPPLEMENT
​
PAROXYSMAL
GLUT1 (SLC2A1)
CHILDHOOD - ADULT-ONSET
10% DON'T HAVE MUTATION IN SLC2A1
PAROXYSMAL/ FIXED
PED/ PNKD/ EPISODIC ATAXIA
RESISTANT EPILEPSY/ MR
DYSTONIA/ ATAXIA
CRISS CROSS GAIT/ SPASTICITY
WEAKNESS/HEADACHE/ VOMITING​
TRIGGERS: FAST/INFECTIONS
​
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
​
BIOTINIDASE DEFICIENCY (BTD)
ENCEPHALOPATHY/ SEIZURES
ATAXIA/ DYSTONIA/ PARKINSONISM
SPASTICITY/ VISION AND HEARING LOSS
SKIN CHANGES
RX: BIOTIN 5-20MG/ DAY
​
COBALAMIN DEFICIENCY (MULTIPLE GENES)
ATAXIA/ DYSTONIA/ SPASTICITY
TREMOR
RX: B12 SUPPLEMENTATION
​
CEREBRAL FOLATE DEFICIENCY
(FLR1/ SCL46A1)
ATAXIA/ DYSTONIA/ SPASTICITY
RX: FOLINIC ACID 5-10MG/KD/DAY
​
PEROXISOMAL DISORDERS
DEMYELINATING NEUROPATHY
SCP2 MUTATIONS
FOCAL OMD/ TORTICOLLIS
ATAXIA/ DYSTONIA/ MOTOR NEUROPATHY
MRI: CEREBRAL HEMISPHERE/ PONS WHITE MATTER HYPERINTENSITY
BASAL GANGLIA IRON DEPOSITION
(MUTATION SPECIFIC)
SPINAL CORD/ TRACTS
SPASTIC PARAPARESIS
AFG3L2 (SCA28/SPAX5)
OPTIC ATROPHY
MITOCHONDRIAL DYSFUNCTION
DIURNAL VARIATION
DYSTONIA/ATAXIA/PARKINSONISM
RX: LEVODOPA MAY HELP
​
​
​
​
​
.png){kind=small}
.png){kind=small}
.png){kind=small}