SACCADES
HYPERMETRIC SACCADES
LESION : FASTIGEAL NUCLEUS
SCA1/SCA6/SCA8/SCA20
FRIEDREICH'S ATAXIA
HYPOMETRIC SACCADES
LESION: OCULOMOTOR VERMIS
SCA3/SCA17
ABETALIPOPROTEINAEMIA
MULTIPLE SYSTEM ATROPHY
REDUCED SACCADIC VELOCITY
PPRF BURST NEURONS INVOLVED
SCA1/SCA2/SCA3/SCA7
ABETALIPOPROTEINAEMIA
INTRUSIONS
SQUARE WAVE JERKS
SCA3
OPHTHALMOPARESIS
REDUCED BLINKS
FRIEDREICH'S ATAXIA
MACRO SQUARE WAVE JERKS
MACROSACCADIC OSCILLATIONS
MSA
SQUARE WAVE JERKS
HYPOMETRIC SACCADES
IMPAIRED VOR SUPPRESSION
SPONTANEOUS/ POSITIONAL DOWNBEAT NYSTAGMUS
PSP
MACRO SQUARE WAVE JERKS
INCREASE WITH FIXATION
REDUCE IN DARK.
SACCADIC INTRUSIONS
SCA24
MACROSACCADIC OSCILLATIONS
FRIEDREICH'S ATAXIA
OCULOMOTOR APRAXIA
ATAXIA TELANGIECTASIA
TELENGIECTASIA
(EYES/ SUN EXPOSED AREAS)
OCULOMOTOR APRAXIA
DYSTONIA/ CHOREA/ MYOCLONUS
PARKINSONISM/ ATAXIA
TREMOR/ NEUROPATHY
LYMPHOMA/ LEUKEMIA (EARLY)
SOLID TUMOUR (LATE)
LAB: LOW IGA/ IGG
ATAXIA TELANGIECTASIA LIKE DISORDER (MRE11A/PCNA)
ATAXIA/ COGNITION
OCULOMOTOR APRAXIA
LAB: ALFA-FETOPROTEIN NORMAL
MRI: CEREBELLAR ATROPHY
RX: LEVODOPA
AOA1 (APTX)
AGE OF ONSET 2-10YRS
OCULOMOTOR APRAXIA
DYSTONIA/ CHOREA/ ATAXIA
NEUROPATHY
LAB: REDUCED ALBUMIN
INCREASED TOTAL CHOLESTEROL
NORMAL FETO-PROTEIN
AOA2 (SETX)
AGE OF ONSET 3-30YRS
OCULOMOTOR APRAXIA
DYSTONIA/ CHOREA/ ATAXIA
NEUROPATHY
LAB: REDUCED ALBUMIN
INCREASED TOTAL CHOLESTEROL
INCREASED IGA/ IGG/ ALPA FETO-PROTEIN
JOUBERT SYNDROME & RELATED DISORDERS
27 GENES (TMEM67/ CEP290)
OCULO-RENAL SYNDROME
RETINITIS PIGMENTOSA/ COLOBOMA
OCULOMOTOR APRAXIA
COGNITION/ LIVER/ COACH SYN
RX: ACETAZOLAMIDE MAY BE USEFUL
ADCY5
VERTICAL SACCADE HYPOMETRIC
OCULOMOTOR APRAXIA
SACCADIC INTRUSIONS
ATAXIA WITH VITAMIN E DEFICIENCY (TTPA)
VIT-E DEFICIENCY
TITUBATION
ATAXIA/ PERIPHERAL NEUROPATHY
RETINITIS PIGMENTOSA/ MACULAR ATROPHY
OCULOMOTOR APRAXIA
INCREASED SACCADIC LATENCY
HEAD THRUST/BLINK FOR EYE MOVEMENT
NYSTAGMUS
STRABISMUS
GAUCHER'S DISEASE
PARKINSONISM/ DEMENTIA
HSGP: EARLY
VSGP: LATE
HSGP> VSGP
HORIZONTAL GAZE ROUND THE HOUSE
OCULOMOTOR APRAXIA
SPG7
OPHTHAMLOPARESIS
OCULOMOTOR APRAXIA/ VSGP
PARKINSONISM
AMYOTROPHY/ WADDLING GAIT
AFG3L2
SPASTICITY/ ATAXIA
OPTIC ATROPHY
OCULOMOTOR APRAXIA SUBACUTE ONSET
ANTI MA1/ MA2 ANTIBODIES
EYE LID APRAXIA
GAD AB
PHENOTYPE:
ATAXIA/ PARKINSONISM/ PSP
STIFF PERSON SYNDROME
STARTLE MYOCLONUS
OPSOCLONUS-MYOCLONUS
ORTHOSTATIC TREMOR
LIMBIC ENCEPHALITIS/ MTLE
ABNORMAL SACCADES
VELOCITY/LATENCY/ACCURACY
SACCADE INITIATION/ EARLY UPGAZE PALSY
NYSTAGMUS
DOWN/ UP BEAT NYSTAGMUS
PERIODIC ALTERNATING NYSTAGMUS
FLUTTER/OPSOCLONUS/ STIFF EYES
OPHTHALMOPARESIS
NIEMANN PICK TYPE C
VSGP/ ATAXIA
PARKINSONSIM
VSGP: EARLY
HSGP: LATE
WHIPPLE'S DISEASE
VSGP/ ATAXIA
GAUCHER'S DISEASE (GBA)
PARKINSONISM/ DEMENTIA
HSGP: EARLY
VSGP: LATE
HSGP> VSGP
HORIZONTAL GAZE ROUND THE HOUSE
OCULOMOTOR APRAXIA
POLG1
ATAXIA/ NEUROPATHY
NEUROACANTHOCYTOSIS
ChAC (VPS13A)
AGE OF ONSET 20-60YRS
ACTION TONGUE DYSTONIA
FEEDING DYSTONIA/ TICS
RUBBER-MAN GAIT/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
SCA8 (ATXN8OS, CTA/ CTG REPEATS)
SMALL REPEATS/ EARLY ONSET
PARKINSONISM
LARGE REPEATS/ LATE ONSET
ATAXIA
PHENOTYPE
PSP/ CBS
SCA28
PTOSIS/ PARKINSONISM
SCA34/38(ELOVL5)
CPEO/DEAFNESS
RX: DHA
SCA48(STUB1)
SPASTICITY/ ATAXIA
OPTIC ATROPHY
VERTICAL SUPRANUCLEAR GAZE PALSY
CORTICAL DISORDERS
PROGRESSIVE SUPRANUCLEAR PALSY
CORTICAL BASAL SYNDROME
FRONTOTEMPORAL DEMENTIA
LEWY BODY DEMENTIA
ALZHEIMER'S DISEASE
HUNTINGTON'S DISEASE
BASAL GANGLIA DISORDERS
LYSOSOMAL
NP-C
GM2 (TAY SACH)
AMINOACIDURIA
GLUTARIC ACIDURIA
NEUROACANTHOCYTOSIS
ChAC (VPS13A)
BRAIN MINERALIZATION DISORDERS
WILSON'S DISEASE
KUFOR RAKEB
MONOGENIC PARKINSONISM
VPS35
FBXO7
SYNJ1
LRRK2
PERRY (DCTN1)
OTHERS
DRPLA
CEREBELLAR
POLG1 MUTATIONS
SCA3
SCA8
SPINAL CORD/ TRACTS
SAX1
SPG7
DYSMORPHISM
18P DEL
AUTOIMMUNE
ANTI MA1/ MA2 AB
RETT (MECP2)
INFECTIONS
WHIPPLE DISEASE
NEUROSYPHILIS
CONVERGENCE REDUCED
ABETALIPOPROTEINAEMIA
MEDIAL RECTUS PALSY
REDUCED CONVERGENCE
SACCADES: SLOW/ HYPOMETRIC
OKN: ABSENT FAST PHASE
PROGRESSIVE SUPRANUCLEAR PALSY
VSGP/ PARKINSONISM
SQUARE WAVE JERKS
OPSOCLONUS-MYOCLONUS
NEUROBLASTOMA
CHILDREN
LAB: URINE VMA/ METANEPHRINES INCREASED
RI AB
AGE OF ONSET >40YRS
SUBACUTE ONSET PARKINSONISM
PSP PHENOTYPE
OCULOPALATAL-MYOCLONUS
NEOPLASIA: BREAST/ OVARY
GAD AB
PHENOTYPE:
ATAXIA/ PARKINSONISM/ PSP
STIFF PERSON SYNDROME
STARTLE MYOCLONUS
OPSOCLONUS-MYOCLONUS
ORTHOSTATIC TREMOR
LIMBIC ENCEPHALITIS/ MTLE
ABNORMAL SACCADES
VELOCITY/LATENCY/ACCURACY
SACCADE INITIATION/ EARLY UPGAZE PALSY
NYSTAGMUS
DOWN/ UP BEAT NYSTAGMUS
PERIODIC ALTERNATING NYSTAGMUS
FLUTTER/OPSOCLONUS/ STIFF EYES
NMDA AB
MUTISM/ AUTONOMIC DYSFUNCTION
CENTRAL HYPOVENTILATION
STEREOTYPE (PRESENT IN SLEEP)
FACIAL DYSKINESIA
LIMB/TRUNK DYSKINESIA
PSYCHOSIS PRESENTATION
FEVER/ HEADACHE/ VOMITING
POST HSV/ VZV INFECTION
EXCITATORY BURST NEURONS HYPERACTIVE
NEOPLASIA: OVARY/ BREAST
SMALL CELL LUNG CARCINOMA
GABA-B RECEPTOR AB
ADULT/ CHILDHOOD OMA
CHOREA/ SEIZURES
GLYCINE RECEPTOR AB
HYPEREKPLEXIA/ PERM
KELCH LIKE PROTEIN (KLH11 AB)
RHOMBENCEPHALITIS
ATAXIA/ DEAFNESS/VERTIGO
TESTICULAR SEMINOMA
BRAINSTEM/ MTL / DENTATE HYPERINTENSITY
POST-INFECTIOUS
IDIOPATHIC
VESTIBULAR
CANVAS (RFC1-AAGGG)
AGE OF ONSET < 50YRS
CEREBELLAR/ VESTIBULAR/ SENSORY ATAXIA
ABNORMAL VVOR AND PURSUIT
ABNORMAL VVOR
HEAD MOVED AT 0.5HZ WITH VISION FIXED AT EARTH FIXED TARGET. SACCADIC EYE MOVEMENTS SEEN, CAUSE: VESTIBULAR AND PURSUIT BOTH ARE ABNORMAL
SENSORY MOTOR NEURONOPATHY
GANGLIONOPATHY
COUGH/AUTONOMIC DYSFUNCTION
SCA3 (ATXN3 CAG)
ATAXIA/ PARKINSONISM/DYSTONIA
VESTIBULAR DYSFUNCTION
CPEO/ BULGING EYES
OPHTHALMOPARESIS
SPASTICITY/ AMYOTROPHY
FACIAL LINGUAL ACTION INDUCED FASCICULATIONS
WERNICKE' S ENCEPHALOPATHY
ATAXIA/UPBEAT NYSTAGMUS
FRIEDREICH'S ATAXIA
ATAXIA/ NEUROPATHY
MACROSACCADIC OSCILLATIONS
PARANEOPLASTIC
NEUROENDOCRINAL
SPECIFIC DISORDERS
ABETALIPOPROTEINAEMIA
MEDIAL RECTUS PALSY
REDUCED CONVERGENCE
SACCADES: SLOW/ HYPOMETRIC
OKN: ABSENT FAST PHASE
AVED
OCULOMOTOR APRAXIA
INCREASED SACCADIC LATENCY
HEAD THRUST/BLINK FOR EYE MOVEMENT
NYSTAGMUS
STRABISMUS
NIEMAN PICK- TYPE C
VSGP: EARLY
HSGP: LATE
GAUCHER'S DISEASE
HSGP: EARLY
VSGP: LATE
HORIZONTAL GAZE ROUND THE HOUSE
OCULOMOTOR APRAXIA
ADCY5
VERTICAL SACCADE HYPOMETRIC
OCULOMOTOR APRAXIA
SACCADIC INTRUSIONS
MULTIPLE SYSTEM ATROPHY
SQUARE WAVE JERKS
HYPOMETRIC SACCADES
IMPAIRED VOR SUPPRESSION
SPONTANEOUS/ POSITIONAL DOWNBEAT NYSTAGMUS
PROGRESSIVE SUPRANUCLEAR ATROPHY
MACRO SQUARE WAVE JERKS
INCREASE WITH FIXATION
REDUCE IN DARK.
ARNOLD CHIARI MALFORMATION
DOWN BEAT NYSTAGMUS
MACRO SQUARE WAVE JERKS
FRIEDREICH ATAXIA
MACRO SQUARE WAVE JERKS
MACROSACCADIC OSCILLATIONS
SCA24
SCA WITH SACCADIC INTRUSIONS