BASAL GANGLIA
BRAIN MINERALIZATION
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
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
FAHN/ SPG35
SPASTICITY/ DYSTONIA
OPTIC ATROPHY
COGNITION/ EPILEPSY/ VSGP
MRI: BRAIN STEM ATROPHY
MPAN
DYSTONIA/ PARKINSONISM
SPASTICITY
BILATERAL OPTIC ATROPHY
AXONAL NEUROPATHY
SENDA (BPAN) (WDR45)
BIPHASIC CLINICAL PROFILE
CHILDHOOD-ONSET:
COGNITIVE DECLINE/RETT-LIKE PHENOTYPE
AUTISM/ STEREOTYPE/ SEIZURES
ADOLESCENCE OR ADULTHOOD ONSET:
SPASTICITY/ PARKINSONISM/ DYSTONIA
OTHER FEATURES:
SEIZURES/ LENNOX GESTAUT SYNDROME
BILATERAL OPTIC ATROPHY
RX: LEVODOPA PARTIALLY RESPONSIVE
COPAN (COASY)
SLOWLY PROGRESSIVE
DYSTONIA/ PARKINSONISM
SPASTICITY/ AXONAL NEUROPATHY
EYE OF TIGER SIGN
VAC14
CHILDHOOD- ADOLESCENCE
COGNITION
FOCAL DYSTONIA/ PARKINSONISM
ATAXIA/ SPASTICITY
RETINITIS PIGMENTOSA
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
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
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
WOODHOUSE SAKATI SYNDROME (DCAF17)
SPECTRUM: RAPIDLY DISABLING TO MILD SYMPTOMS
COGNITIVE DECLINE
DEAFNESS/ DYSTONIA/ CHOREA
PARKINSONISM/ ATAXIA
ALOPECIA./ DIABETES/ HYPOGONADISM
TRIANGULAR FACE/ HYPERTELORISM
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
WILSON'S DISEASE
LIVER/ NEUROLOGICAL/ PSYCHIATRY
DYSTONIA/ CHOREA/ PARKINSONISM
DEPRESSION/ OCD/ PHOBIAS
PROTEINURIA/ ARTHRITIS/SUNFLOWER CATARACT
CARDIOMYOPATHY/ ARRHYTHMIAS
SCL30A10/ SCL39A14 (MN TRANSPORTER)
HYPERMANGANESEMIA
BEHAVIORAL CHANGES
PARKINSONISM/ DYSTONIA
SPASTIC PARAPARESIS/ FINE TREMOR
COCKWALK:
TOE WALK/ ERECT SPINE/ ELBOW FLEXED
ALSO SEEN IN SCA3/ PKAN
LAB: POLYCYTHEMIA/ CIRRHOSIS (SCL30A10)
MRI: GPI HYPERINTENSITY (T1)
RX: CHELATION WITH EDTA/ D -PENICILLAMINE
AMINO-ORGANIC ACIDURIA
GLUTARIC ACIDURIA (GCDH)
COGNITION/ ATAXIA/ DYSTONIA
URINE GLUTARIC ACID MAY BE NEGATIVE
LAB: URINE ORGANIC ACID
MRI: HYPERINTENSITY (T2/ FLAIR)
PUTAMEN/ POSTERIOR PUTAMEN
WHITE MATTER HYPERINTENSITY
SPARING U-FIBRES
CERVICAL MYELOPATHY
MACROCEPHALY
BATWING FRONTO-TEMPORAL ATROPHY
SUBDURAL HYGROMAS
RX: LOW LYSINE DIET/ CARNITINE SUPPLEMENT
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
HOMOCYSTEINURIA
DYSTONIA/ PARKINSONSIM
PSYCHIATRIC SYMTPOMS
WIDE SPECTRUM
MARFANOID FEATURES
ECTOPIC LENS /MYOPIA
RX: PYRIDOXINE 100-300MG/DAY
FOLIC ACID 1-5MG/DAY
BETAIN AND RESTRICTION OF DIETARY METHIONINE
LESCH NYHAN SYNDROME
DYSARTHRIA/ DYSTONIA/ TICS
ARTHRITIS/ SELF MUTILATION
PHENYLKETONURIA
TICS/ SELF MUTILATION
STEREOTYPE/ OCD/ TREMORS
PRESENTATION CAN BE LATE
CAN SURVIVE IN LATE ADULTHOOD
ATYPICAL PARKINSONSIM
MSA
BLEPHAROSPASM/ ANTEROCOLLIS
STRIDOR/ LIMB DYSTONIA
LEVODOPA INDUCED OROMANDIBULAR DYSTONIA
CORTICO BASAL SYNDROME
ASYMMETRICAL LIMB DYSTONIA
PROGRESSIVE SUPRANUCLEAR PALSY
BLEPHAROSPASM/ CERVICAL DYSTONIA
ASYMMETRICAL HAND DYSTONIA
HEMIPARKINSONISM DYSTONIA
HEMIATROPHY
DOPAMINE BIOAMINE DEFECTS
GTPCH1 (AR)
PRESENTATION IN INFANCY
SEIZURES/ INTELLECTUAL DISABILITY
TRUNCAL HYPOTONIA/ LIMB HYPERTONIA
RX: RESPONSIVE TO HIGH-DOSE LEVODOPA
GTPCH1 (AD)
CAN PRESENT AT LATER AGE
EARLY ONSET FOOT DYSTONIA (EQUINOVARUS)
OCCASIONALLY, UL DYSTONIA/ TREMOR
LATER PARKINSONISM WITH POSTURAL TREMOR
OCD/ SPASTICITY/ SCOLIOSIS
DIURNAL FLUCTUATIONS
PHENOTYPES:
BENIGN PARKINSONISM
FOOT DYSTONIA
MYOCLONUS DYSTONIA
SPASTIC PARAPARESIS
RX: EXCELLENT RESPONSE TO LEVODOPA
TYROSINE HYDROXYLASE - TYPE A
CEREBRAL PALSY/ JUVENILE PARKINSONISM
OGC/ UPPER LIMB DYSTONIA
AUTONOMIC DYSFUNCTION
RX: GOOD LEVODOPA RESPONSE
TYROSINE HYDROXYLASE - TYPE B
TREMOR/ PTOSIS/ MENTAL RETARDATION
AUTONOMIC DYSFUNCTION
HYPOTONIA/ DELAYED MILESTONES
RX: GOOD LEVODOPA RESPONSE
SEPIAPTERIN REDUCTASE DEFICIENCY
MICROCEPHALY
MENTAL RETARDATION/ PARKINSONISM
OGC/ AUTONOMIC DYSFUNCTION
HYPOTONIA/ SPASTICITY
RX: HIGH DOSE OF LEVODOPA
PTP SYNTHASE DEFICIENCY (PTPS)
HYPERPHENYLALANINEMIA
DYSTONIA/ EPILEPSY
HYPOTONIA/ OPHISTOTONUS
RIGIDITY/ CHOREA
RX: EXCELLENT LEVODOPA RESPONSE
AADC DEFICIENCY
PHENOTYPES:
SPASTIC DIPLEGIA LIKE CP
SPASTIC PARAPLEGIA
FOCAL DYSTONIA
RIGIDITY/ BRADYKINESIA
PAROXYSMAL MOVEMENT DISORDERS
INFANTILE ONSET:
HYPOTONIA
MIMIC NEUROMUSCULAR DISEASE
RIGIDITY/ MULTIFOCAL MYOCLONUS
OCULOGYRIC CRISIS
DIURNAL OR WEEKLY FLUCTUATIONS
RX: DOPAMINE AGONIST/ MAO INHIBITORS
PYRIDOXINE 100-200MG/DAY
FOLIC ACID
TRANSPORTOPATHIES
VMAT2 DEFICIENCY (SLC18A2)
INFANTILE DYSTONIA PARKINSONISM
AUTONOMIC INSTABILITY
RX: DOPAMINE AGONIST
LEVODOPA WORSENS SYMPTOMS
DOPAMINE TRANSPORTER DEFICIENCY SYNDROME (SLC6A3)
TYPICAL: INFANTILE
ATYPICAL: ADULT-ONSET
PARKINSONISM/ DYSTONIA
OCULOGYRIC CRISIS/ OCULAR FLUTTER
SACCADIC INITIATION PROBLEM
AUTONOMIC DYSFUNCTION
CEREBELLUM/ AFFERENTS
SPINOCEREBELLLAR ATAXIA
SCA3
ATAXIA/ PARKINSONISM/DYSTONIA
CPEO/ BULGING EYES
SPASTICITY/ AMYOTROPHY
FACIAL LINGUAL ACTION INDUCED FASCICULATIONS
NEUROACANTHOCYTOSIS
CHOREA-ACANTHOCYTOSIS (VPS13A)
AGE OF ONSET 20-60YRS
ACTION TONGUE DYSTONIA
FEEDING DYSTONIA/ TICS
PARKINSONISM (MAY BE PRESENTING SIGN)
RUBBER-MAN GAIT (KNEE AND HIP BUCKING)
DROP ATTACK
NEUROPATHY/ MYOPATHY
PSYCHIATRIC MANIFESTATIONS/ SEIZURE
HEPATO-SPLEENOMEGALY
LAB: CPK/ LFT ELEVATED
ACANTHOCYTES TO BE SEEN IN 1:1 DILUTION IN NORMAL SALINE WITH PHASE CONTRAST MICROSCOPE
ACANTHOCYTE CAN BE ABSENT
CORTEX/ SUBCORTICAL
JUVENILE HUNTINGTON (HTT)
AGE OF ONSET < 20YRS
PSYCHIATRIC SYMPTOMS
COGNITION/ SEIZURES
DYSTONIA/ PARKINSONISM
MILD CHOREA
LYSOSOMAL
GM1 GANGLIOSIDOSIS
TYPE 1 (INFANTILE)
COGNITION/ SEIZURES/ CORNEAL OPACITY
TYPE 2 (JUVENILE)
DYSTONIA/ COGNITION/ ORGANOMEGALY
CHERRY RED SPOT
TYPE 3 (ADULT)
DYSTONIA/ SPINAL BONY ABNORMALITY
ANGIOKERATOMA (TRUNK)
LIKE IN FABRY'S DISEASE
GM2 GANGLIOSIDOSIS
OCCASIONAL DYSTONIA
ATAXIA PARKINSONISM
DEMENTIA MYOCLONUS
NIEMANN PICK C DISEASE
VSGP/ GELASTIC CATAPLEXY
ATAXIA/ DYSTONIA/ CHOREA
HEPATOSPLENOMEGALY
THROMBOCYTOPENIA
CHEDIAK HIGASHI (LYST)
AGE OF ONSET 20-40YRS
LYSOSOMAL TRAFFIC REGULATOR PROTEIN
ALBINISM/ INFECTIONS/ BLEEDING/
PARTIAL ALBINISM/ OCULAR ALBINISM
PARKINSONISM/ DYSTONIA/ ATAXIA/ NEUROPATHY
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PRIMARY DYSTONIA
DYT3 (TAF1)
PARKINSONISM
ONLY MALES AFFECTED
X-LINKED RECESSIVE
JAW AND NECK DYSTONIA COMMON
LATER BECOME GENERALIZED
UL DYSTONIA (LESS COMMON)
GTPCH1 (AD)
CAN PRESENT AT LATER AGE
EARLY ONSET FOOT DYSTONIA (EQUINOVARUS)
OCCASIONALLY, UL DYSTONIA/ TREMOR
LATER PARKINSONISM WITH POSTURAL TREMOR
OCD/ SPASTICITY/ SCOLIOSIS
DIURNAL FLUCTUATIONS
PHENOTYPES:
BENIGN PARKINSONISM
FOOT DYSTONIA
MYOCLONUS DYSTONIA
SPASTIC PARAPARESIS
RX: EXCELLENT RESPONSE TO LEVODOPA
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
DYT16 (PRKRA)
DYSTONIA PARKINSONISM
PROMINANT BULBAR
RX: GPI DBS MAY BE USEFUL
PARKINSON MONOGENIC
SNCA
COGNITION/ PSYCHIATRY
MYOCLONUS/ PYRAMIDAL
AUTONOMIC DYSFUNCTION
PARKIN
AGE OF ONSET 20-40YRS
AUTONOMIC/DYSTONIA/PSYCHIATRY
FOOT DYSTONIA ON EXERTION
PINK
DYSTONIA/PSYCHIATRY
AUTONOMIC DYSFUNCTION
DNAJC6
SEIZURE/ COGNITION
PSYCHIATRY/ PYRAMIDAL
TYPICAL PARKINSON'S DISEASE
DJ1
CATARACT/ AMYOTROPHY(AHC)
HEARING
SYNJ1
SEIZURE/ COGNITION
DYSTONIA/ OCULOMOTOR PROBLEMS
FBX07
PSYCHIATRY/ CHOREA/ VSGP
PYRAMIDAL
22q11.2 DELETION (DiGEORGE SYNDROME)
ELONGATED FACE/ CLEFT PALATE
HYPOCALCEMIA
PARKINSONISM
DYSTONIA-MYOCLONUS
EPISODIC SPASMS
MYOCLONUS
SPINAL CORD
SPASTIC PARAPARESIS
AFG3L2
MITOCHONDRIAL
DIURNAL VARIATION
DYSTONIA/ATAXIA/PARKINSONISM
DOPAMINE RESPONSIVE PARKINSONISM
OPTIC ATROPHY
SPG7
AGE OF ONSET < 50YRS
OPHTHALMOPARESIS
DOPAMINE RESPONSIVE PARKINSONISM
AMYOTROPHY
METABOLIC
CO POISONING
NEUROLEPTIC EXPOSURE
MANGANESE POSIONING
MPTP