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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

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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

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OPSOMYOCLONUS
VESTIBULAR

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 

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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/OPSOCLONUSSTIFF EYES

NMDA AB

MUTISMAUTONOMIC 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

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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

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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

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