COGNITION
CORTICAL/ SUBCORTICAL
REST TREMORS
C9ORF72 (ALS-FTD)
AGE OF ONSET 8-80YRS
PHENOTYPES:
HD/ PSP/ CBS/ MSA/ FTD
PARKINSONISM/ CHOREA/ DYSTONIA/ATAXIA
MND/ PLS
RX: MAY BE LEVODOPA RESPONSIVE
PGRN (FTDP-17)
AGE OF ONSET 45-85YRS
HALLUCINATIONS (25%)
PARKINSONISM PROMINENT
NO MND
PHENOTYPE:
FTD/ NF-PPS/SEMANTIC-PPA
ALZHEIMER'S DISEASE
CBS/ PD/PDD/ LBD
LEVODOPA USUALLY NOT EFFECTIVE
TAR-DBP
PHENOTYPE:
FRONTO-TEMPORAL DEMENTIA
SEMANTIC DEMENTIA IS MORE COMMON
MNS/ALS (40%)
RBD/ PARKINSONISM
MRI: PREDOMINANTLY TEMPORAL ATROPHY
RX: LEVODOPA RESPONSIVE
FUS
FRONTO-TEMPORAL DEMENTIA
MNS/ALS
MILD PARKINSONISM
VCP
PARKINSONISM
APRAXIA/ RBD
CBS PHENOTYPE
PROMINENT NEUROPATHOLOGY TDP43
POSTURAL TREMORS
MAPT (FTDP-17)
AGE OF ONSET 25-65YRS
FRONTOTEMPORAL DEMENTIA WITH PARKINSONISM PROMINENT
PHENOTYPE:
FTD/ NON FLUENT -PPA
SEMANTIC-PPA
MND/ALS:
MRI: FRONTOTEMPORAL ATROPHY
RX: MAY BE LEVODOPA RESPONSIVE
FUS
FRONTO-TEMPORAL DEMENTIA
MNS/ALS
MILD PARKINSONISM
VCP
PARKINSONISM
ARAXIA/ RBD
CBS PHENOTYPE
PROMINENT NEUROPATHOLOGY TDP43
CHMP2B
PARKINSONISM
CBS PHENOTYPE
NIID (NOTCH2NLC GGC REPEAT)
ACTION/ POSTURAL TREMOR
DEMENTIA (ALZEIMER'S TYPE)
PARKINSONISM/ DYSTONIA/ CHOREA
ATAXIA(50%)
PERIPHERAL NEUROPATHY/ LIMB WEAKNESS
PERIPHERAL DENERVATION
AUTONOMIC DYSFUNCTION: MIOSIS
DRY COUGH
PHENOTYPE:
FXTAS PHENOTYPE
MSA/ PD PHENOTYPE
MRI: CORTICOMEDULLARY JUNCTION
DWI RIBBON-LIKE HYPER-INTENSITIES
LEUKODYSTROPHY
ALEXANDER DISEASE (GFAP)
AGE OF ONSET <70YRS
TYPE1 < 4YRS, TYPE2 > 4YRS
BRAIN STEM SIGNS
PALATAL MYOCLONUS
DYSARTHRIA/ DYSPHONIA
AUTONOMIC DYSFUNCTION
PARKINSONISM/ ATAXIA
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
PHENYLKETONURIA (PAH)
CHILDHOOD - ADULT ONSET
DEMENTIA/ PARKINSONISM
SPASTIC PARAPARESIS/ TREMOR
MRI: LEUKODYSTROPHY
RX: PHENYLALANINE RESTRICTED DIET
SAPROPTERIDIN DIHYDROCHLORIDE (KUVAN)
MRI: ATROPHY/WMH
CEREBELLUM/ TRACTS
FRAGILE X TREMOR ATAXIA SYNDROME (FMR1)
M (1:2500)/ F (1:5000)
PARKINSONISM (85%)
ATAXIA (85%)
TREMOR (90-100%)
COGNITION (50%)
PSYCHIATRIC MANIFESTATIONS
NEUROPATHY/ AUTONOMIC DYSFUNCTION
FEMALES: MILD AND LATE-ONSET SYMPTOMS
EARLY MENOPAUSE/ IRREGULAR MENSES
MRI: MCP HYPERINTENSITY (LESS IN FEMALES)
CORTICOMEDULLARY JUNCTION
RIBBON LIKE HYPER-INTENSITIES (DWI)
SPLENIUM HYPERINTENSITY (F>M)
CENTRAL PONS HYPERINTENSITY (F>M)
RX: PARKINSONISM RESPONSIVE TO LEVODOPA
PARKINSONISM
BASAL GANGLIA
LEG TREMORS
LRRK
LEG TREMOR COMMON
ADDUCTION AND ABDUCTION
DYSTONIA TREMOR
PARKIN
AUTONOMIC/DYSTONIA
PSYCHIATRY MANIFESTATION
FOOT DYSTONIA ON EXERTION
FOOT TREMOR
PINK1
AUTONOMIC/DYSTONIA
PSYCHIATRY MANIFESTATION
DJ1
CATARACT/ AMYOTROPHY
HEARING LOSS
FBX07
PYRAMIDAL/ PSYCHIATRY
CHOREA/ VSGP
SNJ1
SEIZURE/ OCULOMOTOR/ COGNITION
DYSTONIA
DNAJC6
PYRAMIDAL/ SEIZURE/ COGNITION
PSYCHIATRY/ TYPICAL PARKINSON'S DISEASE
PLA2G6
ATAXIA/ PARKINSONISM
LEVODOPA RESPONSIVE INTIALLY
EARLY DYSKINESIA
LEVODOPA PARTIALLY RESPOSIVE
KUFOR RAKEB SYNDROME (ATP13A2)
PARK9/ SPG78
COGNITION/ PARKINSONISM/ VSGP
VISUAL HALLUCINATION
OCULOGYRIC CRISIS
SPG78: LATE SPASTICITY WITHOUT PARKINSONISM
FACIAL-FAUCIAL-FINGER-MYOCLONUS
UL POST TREMORS
DYT5 (GCH1)
VOICE/HEAD/CHIN REST TREMOR
PHEYLKETONURIA (PAH)
CHILDHOOD - ADULT ONSET
DEMENTIA/ PARKINSONISM
SPASTIC PARAPARESIS/ TREMOR
MRI: LEUKODYSTROPHY
RX: PHENYLALANINE RESTRICTED DIET
SAPROPTERIDIN DIHYDROCHLORIDE (KUVAN)
MRI: ATROPHY/WMH
ORTHOSTATIC TREMORS
PARKINSON'S DISEASE
LOW FREQUENCY ORTHOSTATIC TREMOR
LEVODOPA RESPONSIVE
CEREBELLUM/ TRACTS
FRAGILE X TREMOR ATAXIA SYNDROME
M (1:2500)/ F (1:5000)
PARKINSONISM (85%)
ATAXIA (85%)
TREMOR (90-100%)
COGNITION (50%)
PSYCHIATRIC MANIFESTATIONS
NEUROPATHY/ AUTONOMIC DYSFUNCTION
FEMALES: MILD AND LATE ONSET SYMPTOMS
EARLY MENOPAUSE/ IRREGULAR MENSES
MRI: MCP HYPERINTENSITY (LESS IN FEMALES)
CORTICOMEDULLARY JUNCTION
RIBBON LIKE HYPER-INTENSITIES (DWI)
SPLENIUM HYPERINTENSITY (F>M)
CENTRAL PONS HYPERINTENSITY (F>M)
RX: PARKINSONSIM RESPONSIVE TO LEVODOPA
DYSTONIA
BASAL GANGLIA
BRAIN MINERALIZATION DISORDERS
WILSON DISEASE
RUBRAL TREMOR
TONGUE TREMOR
ESSENTIAL TREMOR PHENOTYPE
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
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 RESPOSIVE
KUFOR RAKEB SYNDROME (ATP13A2)
PARK9/ SPG78
COGNITION/ PARKINSONISM/ VSGP
VISUAL HALLUCINATION
OCULOGYRIC CRISIS
SPG78: LATE SPASTICITY WITHOUT PARKINSONISM
FACIAL-FAUCIAL-FINGER-MYOCLONUS
NEUROFERRITINOPATHY
ORO-MANDIBULAR DYSKINESIA (85%)
JAW DYSTONIA/ BLEPHAROSPASM
FOCAL LOWER LIMB CHOREA /DYSTONIA
ACUTE BALLISMUS
LIP-SMACKING/ WRITER'S CRAMP
FRONTAL SUBCORTICAL COGNITIVE DYSFUNCTION
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
PRIMARY DYSTONIA
DYT1 (TORIA)
ACTION SPECIFIC DYSTONIA
WRITING/ WALKING
DYSTONIC LEG / ARM TREMOR
GENERALIZED DYSTONIA
WRITER'S CRAMP LATE ONSET DYT1
DYT5 (GCH1)
VOICE/HEAD/CHIN REST TREMOR
DYT6 (THAP1)
NECK AND UPPER LIMB DYSTONIA WITH TREMOR
VOICE TREMOR
DYT11 (SGCE)
AGE OF ONSET <20 YRS
HEAD/ ARM/ UPPER BODY
MYOCLONUS
OCD/ ANXIETY
RX: CLONAZEPAM/ VALPROIC ACID
TRIHEXYPHENIDYL
THALAMIC DBS
DYT23 (CACNA1B)
UPPER LIMB AND HEAD TREMOR
ADULT ONSET CERVICAL DYSTONIA
DYT24 (ANO3)
ESSENTIAL TREMOR PHENOTYPE
CERVICAL DYSTONIA
FAST MYOCLONUS
VOICE TREMOR
DYT25 (GNAL)
AGE OF ONSET >20 YRS
CERVICAL/ CRANIAL
OROMANDIBULAR/ LARYNX
TREMOR
DYT5 (GCH1)
VOICE/HEAD/CHIN REST TREMOR
MONOGENIC PARKINSON'S DISEASE
PARKIN
AUTONOMIC/DYSTONIA
PSYCHIATRY MANIFESTATION
FOOT DYSTONIA ON EXERTION
FOOT TREMOR
PINK1
AUTONOMIC/DYSTONIA
PSYCHIATRY MANIFESTATION
DJ1
CATARACT/ AMYOTROPHY
HEARING LOSS
FBX07
PYRAMIDAL/ PSYCHIATRY
CHOREA/ VSGP
SYNJ1
SEIZURES/OCULOMOTOR/ COGNITION
DYSTONIA
DNAJC6
PYRAMIDAL/ SEIZURE/ COGNITION
PSYCHIATRY/ TYPICAL PARKINSON'S DISEASE
OTHERS
RETT SYNDROME (MECP2)
FEMALES AFFECTED MORE
CHOREA/ AUTISM/ STEREOTYPE
HAND WRIGGING/ CLAPPING/ RUBBING
MICROCEPHALY
NORMAL TILL 6-18 MONTHS
HYPERVENTILATION
ATAXIA
CORTICAL/ SUBCORTICAL
COCKAYNE SYNDROME (ERCC6)
CHILDHOOD LEUKODYSTROPHY
ATAXIA/ SPASTICITY/ TREMOR
CATARACT/ PENDULAR NYSTAGMUS
EXOPHTHALMOS/ RETINAL DYSTROPHY
MRI: PUTAMEN/ DENTATE CALCIFICATION
CORTICAL CALCIFICATION
DYSMYELINATION
NIID (NOTCH2NLC GGC REPEAT)
ACTION/ POSTURAL TREMOR
DEMENTIA (ALZEIMER'S TYPE)
PARKINSONISM/ DYSTONIA/ CHOREA
ATAXIA(50%)
PERIPHERAL NEUROPATHY/ LIMB WEAKNESS
PERIPHERAL DENERVATION
AUTONOMIC DYSFUNCTION: MIOSIS
DRY COUGH
PHENOTYPE:
FXTAS PHENOTYPE
MSA/ PD PHENOTYPE
MRI: CORTICOMEDULLARY JUNCTION
DWI RIBBON-LIKE HYPER-INTENSITIES
LEUKODYSTROPHY
POLR3B/ 3A
TREMOR ATAXIA SYNDROME
HHH (HYPOMYELINATION/ HYPOGONADOTROPIC HYPOGONADISM/ HYPODONTIA
BASAL GANGLIA
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
CEREBELLAR
FRAGILE X TREMOR ATAXIA SYNDROME
M (1:2500)/ F (1:5000)
PARKINSONISM (85%)
ATAXIA (85%)
TREMOR (90-100%)
COGNITION (50%)
PSYCHIATRIC MANIFESTATIONS
NEUROPATHY/ AUTONOMIC DYSFUNCTION
FEMALES: MILD AND LATE ONSET SYMPTOMS
EARLY MENOPAUSE/ IRREGULAR MENSES
MRI: MCP HYPERINTENSITY (LESS IN FEMALES)
CORTICOMEDULLARY JUNCTION
RIBBON LIKE HYPER-INTENSITIES (DWI)
SPLENIUM HYPERINTENSITY (F>M)
CENTRAL PONS HYPERINTENSITY (F>M)
RX: PARKINSONSIM RESPONSIVE TO LEVODOPA
SCA12
ATAXIA/ TREMOR
PARKINSONISM
AGRAWAL COMMUNITY
SCA15
ATAXIA/ DYSARTHRIA
HEAD/ TRUNK/ UL TREMOR (30%)
SCA27 (FGF14)
CHILDHOOD TREMOR
LATER ATAXIA
EPISODIC ATAXIA
PSYCHIATRY MANIFESTATIONS
ATAXIA TELANGIECTASIA (ATM)
TELENGIECTASIA
(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
AUTOIMMUNE
GFAP AB
MENINGOENCEPHALOMYELITIS
ATAXIA (30%)
TREMORS(30%)
PSYCHIATRIC(30%)
AUTONOMIC (30%)
MRI: LINEAR PERIVENTRICAL CONTRAST ENHANCEMENT
CASPR2 AB
EPISODIC ATAXIA
WHOLE BODY TREMOR
NEUROMYOTONIA/ MYOKYMIA
CRMP5 AB
PARKINSONISM/ ATAXIA
AUTONOMIC DYSFUNCTION
MSP-P PHENOTYPE
BILATERAL OPTIC NEUROPATHY
SMALL CELL CARCINOMA LUNG
MRI: BASAL GANGLIA HYPERINTENSITY
PERIVENTRICULAR/ INTERNAL CAPSULE HYPERINTENSITY
ATAXIA WITH PALATAL TREMOR
CORTICAL/ SUBCORTICAL
PAPT (GFAP)
PROGRESSIVE ATAXIA PALATAL TREMOR
SPORADIC
ALEXANDER'S DISEASE (FAMILIAL)
MRI: BRAINSTEM AND CERVICAL CORD ATROPHY (FAMILIAL)
HYPERTROPHIC OLIVARY DEGENERATION
(SPORADIC)
CEREBELLAR
SCA20
SPASMODIC DYSPHONIA
PALATAL TREMOR (60%)
MRI: DENTATE CALCIFICATION
INFERIOR OLIVARY NUCLEUS HYPERINTENSITY (T2/ FLAIR)
SPINAL CORD/ TRACTS
SPG7
ATAXIA/ PARKINSONISM
OPHTHALMOPARESIS
AMYOTROPHY
CHOREA
CORTICAL/ SUBCORTICAL
NIID (NOTCH2NLC GGC REPEAT)
ACTION/ POSTURAL TREMOR
DEMENTIA (ALZEIMER'S TYPE)
PARKINSONISM/ DYSTONIA/ CHOREA
ATAXIA(50%)
PERIPHERAL NEUROPATHY/ LIMB WEAKNESS
PERIPHERAL DENERVATION
AUTONOMIC DYSFUNCTION: MIOSIS
DRY COUGH
PHENOTYPE:
FXTAS PHENOTYPE
MSA/ PD PHENOTYPE
MRI: CORTICOMEDULLARY JUNCTION
DWI RIBBON-LIKE HYPER-INTENSITIES
LEUKODYSTROPHY
BASAL GANGLIA
NEUROFERRITINOPATHY
ORO-MANDIBULAR DYSKINESIA (85%)
JAW DYSTONIA/ BLEPHAROSPASM
FOCAL LOWER LIMB CHOREA /DYSTONIA
ACUTE BALLISMUS
LIP-SMACKING/ WRITER'S CRAMP
FRONTAL SUBCORTICAL COGNITIVE DYSFUNCTION
CEREBELLUM
FRAGILE X TREMOR ATAXIA SYNDROME
M (1:2500)/ F (1:5000)
PARKINSONISM (85%)
ATAXIA (85%)
TREMOR (90-100%)
COGNITION (50%)
PSYCHIATRIC MANIFESTATIONS
NEUROPATHY/ AUTONOMIC DYSFUNCTION
FEMALES: MILD AND LATE ONSET SYMPTOMS
EARLY MENOPAUSE/ IRREGULAR MENSES
MRI: MCP HYPERINTENSITY (LESS IN FEMALES)
CORTICOMEDULLARY JUNCTION
RIBBON LIKE HYPER-INTENSITIES (DWI)
SPLENIUM HYPERINTENSITY (F>M)
CENTRAL PONS HYPERINTENSITY (F>M)
RX: PARKINSONSIM RESPONSIVE TO LEVODOPA
SYSTEMIC/ DYSMORPHIC
KLINEFELTER SYNDROME (47-XXY)
ESSENTIAL TREMOR PHENOTYE
CAN HAVE REST TREMOR
TREMOR (60%)/ DYSTONIA
GYNAECOMASTIA/ HYPOGONADISM
TALL STATURE/ LONG EXTREMITIES
MOOD DISORDERS
FRAGILE X TREMOR ATAXIA SYNDROME
COGNITION/PSYCHIATRIC
ATAXIA/ TREMOR
NEUROPATHY/ AUTONOMIC DYSFUNCTION
MILD PARKINSONISM
RX: RESPONSIVE TO LEVODOPA
MRI: MCP HYPERINTENSITY
CORTICOMEDULLARY JUNCTION
RIBBON LIKE HYPER-INTENSITIES (DWI)
NEUROPATHY
CORTICAL/ SUBCORTICAL
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
NIID (NOTCH2NLC GGC REPEAT)
ESSENTIAL TREMORS
ATAXIA (50%)
DEMENTIA (ALZEIMER'S PHENOTYPE)
PERIPHERAL NEUROPATHY
AUTONOMIC DYSFUNCTION/ MIOSIS
PHENOTYPES:
DYSTONIA-PARKINSONISM/ MSA/ PD/ FXTAS
MRI: CORTICOMEDULLARY JUNCTION
RIBBON LIKE HYPER-INTENSITIES (DWI)
LEUKODYSTROPHY
MCP HYPERINTENSITY
CEREBELLUM/ TRACTS
FRAGILE X TREMOR ATAXIA SYNDROME
COGNITION/PSYCHIATRIC
ATAXIA/ TREMOR
NEUROPATHY/ AUTONOMIC DYSFUNCTION
MILD PARKINSONISM
RX: RESPONSIVE TO LEVODOPA
MRI: MCP HYPERINTENSITY
CORTICOMEDULLARY JUNCTION
RIBBON LIKE HYPER-INTENSITIES (DWI)
SPINAL CORD/ TRACTS
SPG7
PARKINSONISM/ ATAXIA
OPHTHALMOPARESIS
WADDLING GAIT/ PES CAVUS
PALATAL TREMOR
SPASTICITY
CORTICAL/ SUBCORTICAL
ALEXANDER DISEASE (GFAP)
AGE OF ONSET <70YRS
BRAIN STEM SIGNS
DYSARTHRIA/ DYSPHONIA
AUTONOMIC DYSFUNCTION
PARKINSONISM/ ATAXIA
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
BASAL GANGLIA
PHENYLKETONURIA (PAH)
CHILDHOOD - ADULT ONSET
DEMENTIA/ PARKINSONISM
SPASTIC PARAPARESIS/ TREMOR
MRI: LEUKODYSTROPHY
RX: PHENYLALANINE RESTRICTED DIET
SAPROPTERIDIN DIHYDROCHLORIDE (KUVAN)
MRI: ATROPHY/WMH
SPINAL CORD/ TRACTS
SPG7
PARKINSONISM/ ATAXIA
OPHTHALMOPARESIS
WADDLING GAIT
PALATAL TREMOR/ MYOCLONUS
SPG15
ORTHOSTATIC TREMOR
SLC30A10/ SLC39A14
FINE TREMOR/ SPASTIC PARAPARESIS
MRI: BASAL GANGLIA T1 HYPERINTENSITY
AUTOIMMUNE
GFAP AB
MENINGOENCEPHALOMYELITIS
ATAXIA (30%)
TREMORS(30%)
PSYCHIATRIC(30%)
AUTONOMIC (30%)
MRI: LINEAR PERIVENTRICAL CONTRAST ENHANCEMENT
INFECTIONS
LEPTOSPIROSIS
ATAXIA WITH TREMOR
JAPANESE ENCEPHALITIS
TREMOR PARKINSONISM
SYPHILIS
AUTOIMMUNE
CASPR2 AB
LOWER LIMB ACTION MYOCLONUS
SEGMENTAL/ PROPRIOSPINAL MYOCLONUS
EPISODIC ATAXIA
NEUROMYOTONIA/ MYOKYMIA
SMALL CALL CARCINOMA LUNG
THYOMOMA
MRI: BASAL GANGLIA HYPERINTENSITY
GFAP AB
MENINGOENCEPHALOMYELITIS
ATAXIA (30%)
TREMORS(30%)
PSYCHIATRIC(30%)
AUTONOMIC (30%)
MRI: LINEAR PERIVENTRICAL CONTRAST ENHANCEMENT
WHOLE BODY
CASPR2 AB
LOWER LIMB ACTION MYOCLONUS
SEGMENTAL/ PROPRIOSPINAL MYOCLONUS
EPISODIC ATAXIA
NEUROMYOTONIA/ MYOKYMIA
SMALL CALL CARCINOMA LUNG
THYOMOMA
MRI: BASAL GANGLIA HYPERINTENSITY
CRMP5 AB
PARKINSONISM/ ATAXIA
AUTONOMIC DYSFUNCTION
MSP-P PHENOTYPE
BILATERAL OPTIC NEUROPATHY
SMALL CELL CARCINOMA LUNG
MRI: BASAL GANGLIA HYPERINTENSITY
PERIVENTRICULAR/ INTERNAL CAPSULE HYPERINTENSITY
DPPX6 AB
COGNITION
THORACIC STIFFNESS
BRAIN STEM INVOLVEMENT
GI DYSAUTONOMIA
DIARRHOEA/ WEIGHT LOSS
TREMOR/ MYOCLONUS/ HYPEREKPLEXIA
SEIZURES/ PARKINSONISM/ ATAXIA
YO AB
HOLMES TREMOR