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
​