LYSOSOMAL DISORDERS
GAUCHER DISEASE (GBA)
GD1: ADULT GD
CAN PRESENT AT ANY AGE
COGINITION/ PARKINSONISM
TREMOR/ ATAXIA
10 TIMES INCREASED RISK FOR PD
NO EYE ABNORMALITY
ANAEMIA/ PANCYTOPENIA
THROMBOCYTOPENIA
HEPATOSPLEENOMEGALY
ACUTE PAINFUL BONE CRISIS
GD2: INFANTILE GD
GD3: JUVENILE GD
AGE OF ONSET <10 YRS
HSGP (EARLY) / VSGP (LATE)
CONVERGENT SQUINT (VI NERVE PALSY)
COGNITION/ EPILEPSY/ PME
FACE/ LIMB DYSTONIA
ATAXIA/ SPASTICITY
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PELIZAEUS MERZBACHER (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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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
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GM2 GANGLIOSIDOSIS
OCCASIONAL DYSTONIA
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NIEMANN PICK C DISEASE
VSGP/ GELASTIC CATAPLEXY
ATAXIA/ DYSTONIA/ CHOREA
HEPATOSPLEENOMEGALY
THROMBOCYTOPENIA
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AMINO-ORGANIC ACIDURIA DISORDERS
GLUTARIC ACIDURIA (GCDH)
COGNITION/ ATAXIA/ DYSTONIA
GA IN URINE CAN BE NEGATIVE
LAB: URINE ORGANIC ACID
MRI: OPEN OPERCULA/ SDH/ WMH
RX: LOW LYSINE DIET/ CARNITINE SUPPLEMENT
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HOMOCYSTINURIA
DYSTONIA/ PARKINSONISM
PSYCHIATRIC SYMPTOMS
WIDE SPECTRUM
MARFANOID FEATURES
ECTOPIC LENS /MYOPIA
RX: PYRIDOXINE 100-300MG/DAY
FOLIC ACID 1-5MG/DAY
BETAIN AND RESTRICTION OF DIETARY METHIONINE
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LESCH NYHAN SYNDROME
DYSARTHRIA/ DYSTONIA/ TICS
ARTHRITIS/ SELF MUTILATION
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PHENYLKETONURIA
TICS/ SELF MUTILATION
STEREOTYPE/ OCD/ TREMORS
PRESENTATION CAN BE LATE
CAN SURVIVE IN LATE ADULTHOOD
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BCAA DISORDERS
PROPIONIC ACIDURIA
DYSTONIA/ CHOREA
PSYCHOSIS/ COGNITION
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L2 H-GLUTARIC ACIDURIA
MACROCEPHALY
HIGH RISK OF MALIGNANCY
SPASTICITY/ ATAXIA/ DYSTONIA
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
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METHYLMALONIC ACIDURIA
DYSTONIA/ CHOREA
TREMOR/ ATAXIA
RX: SOME CASES RESPOND TO VIT B12
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DOPAMINE BIOAMINE DEFECTS
GTPCH (AR)
INFANCY
RX: RESPONSIVE TO HIGH DOSE LEVODOPA
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GTPCH (AD)
MOST COMMON
ANY AGE PRESENTATION
PARKINSONISM/ DYSTONIA/ OCD
SPASTICITY/ SCOLIOSIS
RX: EXCELLENT RESPONSE TO LEVODOPA
TYROSINE HYDROXYLASE - TYPE A
CEREBRAL PALSY/ JUVENILE PARKINSONISM
OGC/ UPPER LIMB DYSTONIA
AUTONOMIC DYSFUNCTION
RX: GOOD LEVODOPA RESPONSE
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TYROSINE HYDROXYLASE - TYPE B
TREMOR/ PTOSIS/ MENTAL RETARDATION
AUTONOMIC DYSFUNCTION
HYPOTONIA/ DELAYED MILESTONES
RX: GOOD LEVODOPA RESPONSE
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SEPIAPTERIN REDUCTASE DEFICIENCY
MICROCEPHALY
MENTAL RETARATION/ PARKINSONISM
OGC/ AUTONOMIC DYSFUNCTION
HYPOTONIA/ SPASTICITY
RX: HIGH DOSE OF LEVODOPA
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PTP SYNTHASE DEFICIENCY
DYSTONIA/ EPILEPSY​
RX: EXCELLENT LEVODOPA RESPONSE
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AADC DEFICIENCY
PRESENTATIONS
SPASTIC DIPLEGIA LIKE CP
SPASTIC PARAPLEGIA
FOCAL DYSTONIA
RIGIDITY/ BRADYKINESIA
PAROXYSMAL MOVEMENT DISORDERS
INFANTILE ONSET:
HYPOTONIA
CAN MINIC NEUROMUSCULAR DISEASE
RIGIDITY/ MULTIFOCAL MYOCLONUS/ OGC
DIURNAL OR WEEKLY FLUCTUATIONS
RX: DOPAMINE AGONIST/ MAO INHIBITORS
PYRIDOXINE 100-200MG/DAY
FOLIC ACID
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TRANSPORTOPATHIES
VMAT2 DEFICIENCY (SLC18A2)
INFANTILE DYSTONIA PARKINSONISM
RX: DOPAMINE AGONIST
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DOPAMINE TRANSPORTER DEFICIENCY SYNDROME (SLC6A3)
TYPICAL: INFANTILE
ATYPICAL: ADULT ONSET
PARKINSONISM/ DYSTONIA
OCULOGYRIC CRISIS/ OCULAR FLUTTER
SACCADIC INITIATION PROBLEM
AUTONOMIC DYSFUNCTION
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CARBOHYDRATE DISORDERS
GLUT1 (SLC2A1)
CHILD - ADULT ONSET
SLC2A1 MUTATIONS (90%)
PAROXYSMAL/ FIXED DYSTONIA
PAROXYSMAL EXERCISE INDUCED DYSTONIA
PAROXYSMAL NON KINESOGENIC DYSTONIA
EPISODIC ATAXIA
RESISTANT EPILEPSY
MENTAL RETARDATION
DYSTONIA/ ATAXIA
LAB: CSF GLUCOSE <60MG/DL
CSF TO BLOOD GLUCOSE RATIO: 0.2 - 0.59
INCREASE CSF LACTATE
BASAL GANGLIA
MINERAL DEPOSIT DISORDERS
PKAN (PANK2)
TYPICAL PKAN:
AGE OF ONSET <12YRS
DYSARTHRIA/ DYSTONIA/ OPISTHOTONUS
PRAYING MANTIS SIGN/ CHOREA
PARKINSONISM/ SPASTICITY/ OPTIC ATROPHY
RETINITIS PIGMENTOSA (25%)
ACANTHOCYTES (8%)
ATYPICAL PKAN:
EARLY CHILDHOOD TO LATE ADULTHOOD
SLOWER PROGRESSION
NEUROPSYCHIATRIC MANIFESTATIONS
OCD/ IMPULSIVITY/ DEPRESSION
PALILALIA/ TICS
CAN MIMIC JUVENILE PARKINSONISM
CAN MIMIC TOURETTE SYNDROME
RX: DEFERIPRONE 30MG/KG/DAY
MAY BE USEFUL (MIXED RESULTS)
DBS MAY BE USEFUL
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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
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FAHN/ SPG35
SPASTICITY/ DYSTONIA
OPTIC ATROPHY
COGNITION/ EPILEPSY/ VSGP
MRI: BRAIN STEM ATROPHY
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MPAN
DYSTONIA/ PARKINSONISM
SPASTICITY
BILATERAL OPTIC ATROPHY
AXONAL NEUROPATHY
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SENDA (BPAN) (WDR45)
BIPHASIC CLINICAL PROFILE
CHILDHOOD-ONSET, DECLINE IN ADULT
SPASTIC PARAPLEGIA AND MENTAL
RETARDATION TILL 30YRS
PROGRESSES TO DYSTONIA AND PARKINSONISM
OTHER FEATURES:
SEIZURES/ LENNOX GESTAUT SYNDROME
BILATERAL OPTIC ATROPHY
RX: LEVODOPA PARTIALLY RESPONSIVE
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COPAN (COASY)
SLOWLY PROGRESSIVE
DYSTONIA/ PARKINSONISM
SPASTICITY/ AXONAL NEUROPATHY
EYE OF TIGER SIGN
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VAC14
AGE OF ONSET 6-15YRS
COGNITION
ATAXIA/ SPASTICITY
RETINITIS PIGMENTOSA
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NEUROFERRITINOPATHY
ORO-MANDIBULAR DYSKINESIA (85%)
JAW DYSTONIA/ BLEPHAROSPASM
FOCAL LOWER LIMB CHOREA /DYSTONIA
ACUTE BALLISMUS
LIP-SMACKING/ WRITER'S CRAMP
FRONTAL SUBCORTICAL COGNITIVE DYSFUNCTION
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ACERULOPLASMINEMIA
AGE OF ONSET 30-70YRS
OROFACIAL DYSTONIA/ CERVICAL DYSTONIA
COGNITIVE DECLINE/ ATAXIA
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
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WOODHOUSE SAKATI SYNDROME (DCAF17)
SPECTRUM: RAPIDLY DISABLING TO MILD SYMPTOMS
COGNITIVE DECLINE
DEAFNESS/ DYSTONIA
PARKINSONISM/ ATAXIA
ALOPECIA./ DIABETES/ HYPOGONADISM
TRIANGULAR FACE/ HYPERTELORISM
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KUFOR RAKEB SYNDROME (ATP13A2)
PARK9/ SPG78
COGNITION/ PARKINSONISM/ VSGP
VISUAL HALLUCINATION
LEVODOPA-INDUCED DYSKINESIA
OCULOGYRIC CRISIS
FACIAL-FAUCIAL-FINGER-MYOCLONUS
SPG78: LATE SPASTICITY WITHOUT PARKINSONISM
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WILSON'S DISEASE
LIVER/ NEUROLOGICAL/ PSYCHIATRY
DYSTONIA/ CHOREA/ PARKINSONISM
DEPRESSION/ OCD/ PHOBIAS
PROTEINURIA/ ARTHRITIS/SUNFLOWER CATARACT
CARDIOMYOPATHY/ ARRHYTHMIAS
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FAHR 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
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