PAROXYSMAL
GLUT1 (SLC2A1)
CHILDHOOD - ADULT ONSET
SLC2A1 MUTATIONS (90%)
PAROXYSMAL/ FIXED DYSTONIA
PAROXYSMAL EXERCISE INDUCED DYSTONIA
PAROXYSMAL NON KINESOGENIC DYSTONIA
EPISODIC ATAXIA
RESISTANT EPILEPSY/ MENTAL RETARDATION
DYSTONIA/ ATAXIA
CRISS CROSS GAIT/ SPASTICITY
WEAKNESS/HEADACHE/ VOMITING
TRIGGERS: FAST/INFECTIONS
LAB: CSF GLUCOSE <60MG/DL
CSF TO BLOOD GLUCOSE RATIO: 0.2 - 0.59
INCREASE CSF LACTATE
MINERAL DEPOSITION 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
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
AGE OF ONSET 6-15YRS
COGNITION
ATAXIA/ SPASTICITY
RETINITIS PIGMENTOSA
NEUROFERRITINOPATHY (FTL1)
ORO-MANDIBULAR DYSKINESIA (85%)
JAW DYSTONIA/ BLEPHAROSPASM
FOCAL LOWER LIMB CHOREA /DYSTONIA
ACUTE BALLISMUS
LIP-SMACKING/ WRITER'S CRAMP
FRONTAL SUBCORTICAL COGNITIVE DYSFUNCTION
ACERULOPLASMINEMIA (CP)
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
WOODHOUSE SAKATI SYNDROME (DCAF17)
SPECTRUM: RAPIDLY DISABLING TO MILD SYMPTOMS
COGNITIVE DECLINE
DEAFNESS/ DYSTONIA
PARKINSONISM/ ATAXIA
ALOPECIA./ DIABETES/ HYPOGONADISM
TRIANGULAR FACE/ HYPERTELORISM
KUFOR RAKEB SYNDROME (ATP13A2)
PARK9/ SPG78
COGNITION/ PARKINSONISM/ VSGP
VISUAL HALLUCINATION
OCULOGYRIC CRISIS
SPG78: LATE SPASTICITY WITHOUT PARKINSONISM
FACIAL-FAUCIAL-FINGER-MYOCLONUS
WILSON DISEASE (ATP7B)
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
DOPAMINE BIOAMINE DEFECTS
GTPCH (AR)
INFANCY
RX: RESPONSIVE TO HIGH DOSE LEVODOPA
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
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
DYSTONIA/ EPILEPSY
RX: EXCELLENT LEVODOPA RESPONSE
AADC DEFICIENCY
PRESENTATIONS
SPASTIC DIPLEGIA LIKE CP
SPASTIC PARAPLEGIA
FOCAL DYSTONIA
RIGIDITY/ BRADYKINESIA
PAROXYSMAL MOVEMENT DISORDERS
INFANTILE ONSET:
HYPOTONIA
CAN MIMIC NEUROMUSCULAR DISEASE
RIGIDITY/ MULTIFOCAL MYOCLONUS/ OGC
DIURNAL OR WEEKLY FLUCTUATIONS
RX: DOPAMINE AGONIST/ MAO INHIBITORS
PYRIDOXINE 100-200MG/DAY
FOLIC ACID
TRANSPORTOPATHIES
VMAT2 DEFICIENCY (SLC18A2)
INFANTILE DYSTONIA PARKINSONISM
RX: DOPAMINE AGONIST
DOPAMINE TRANSPORTER DEFICIENCY SYNDROME (SLC6A3)
TYPICAL: INFANTILE
ATYPICAL: ADULT-ONSET
PARKINSONISM/ DYSTONIA
OCULOGYRIC CRISIS/ OCULAR FLUTTER
SACCADIC INITIATION PROBLEM
AUTONOMIC DYSFUNCTION
SPINAL CORD/ TRACTS
AFG3L2
DIURNAL VARIATION
DYSTONIA/ATAXIA/PARKINSONISM
OPTIC ATROPHY
RX: DOPAMINE RESPONSIVE
SPG7
AGE OF ONSET <50 YRS
ATAXIA/ OPHTHALMOPARESIS
AMYOTROPHY/ PARKINSONISM
CERVICAL/ LIMB DYSTONIA
SPG8
PAROXYSMAL EXERCISE DYSTONIA
DIURNALLY FLUCTUATING DYSTONIA
SPG11
COGNITIVE IMPAIRMENT
PSEUDOBULBAR INVOLVEMENT
ATAXIA/ PARKINSONISM
DYSTONIA/ DYSTONIC TREMOR
LEVODOPA REPONSIVE
RETINAL DEGENERATION
NEUROPATHY/ PES CAVUS
MRI: THIN CORPUS CALLOSUM
SPG15
COGNITIVE IMPAIRMENT
PARKINSONISM (LEVODOPA REPONSIVE)
FOCAL DYSTONIA
RETINAL DEGENERATION
NEUROPATHY
MRI: THIN CORPUS CALLOSUM
BASAL GANGLIA
PARKINSON'S DISEASE (PRIMARY)
PARKIN
AUTONOMIC/DYSTONIA/PSYCHIATRY
FOOT DYSTONIA ON EXERTION
PINK
AUTONOMIC/DYSTONIA/PSYCHIATRY
DJ1
CATARACT/ AMYOTROPHY (AHC)
HEARING
FBX07
PYRAMIDAL/ PSYCHIATRY/ CHOREA
VSGP