OCULOMOTOR APRAXIA

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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

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ATAXIA TELANGIECTASIA LIKE DISORDER (MRE11A/PCNA)

ATAXIA/ COGNITION

OCULOMOTOR APRAXIA

LAB: ALFA-FETOPROTEIN NORMAL

MRI: CEREBELLAR ATROPHY

RX: LEVODOPA

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AOA1 (APTX)

AGE OF ONSET 2-10YRS

OCULOMOTOR APRAXIA

DYSTONIA/ CHOREA/ ATAXIA

NEUROPATHY

LAB: REDUCED ALBUMIN 

INCREASED TOTAL CHOLESTEROL

NORMAL FETO-PROTEIN

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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

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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

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ADCY5

VERTICAL SACCADE HYPOMETRIC

OCULOMOTOR APRAXIA

SACCADIC INTRUSIONS

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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

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GAUCHER'S DISEASE

PARKINSONISM/ DEMENTIA

HSGP: EARLY

VSGP: LATE

HSGP> VSGP

HORIZONTAL GAZE ROUND THE HOUSE

OCULOMOTOR APRAXIA

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SPG7

OPHTHAMLOPARESIS

OCULOMOTOR APRAXIA/ VSGP

PARKINSONISM

AMYOTROPHY/ WADDLING GAIT

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AFG3L2

SPASTICITY/ ATAXIA

OPTIC ATROPHY

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OCULOMOTOR APRAXIA SUBACUTE ONSET

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ANTI MA1/ MA2 ANTIBODIES

EYE LID APRAXIA

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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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OPHTHALMOPARESIS

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NIEMANN PICK TYPE C

VSGP/ ATAXIA

PARKINSONSIM

VSGP: EARLY

HSGP: LATE

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WHIPPLE'S DISEASE

VSGP/ ATAXIA

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GAUCHER'S DISEASE (GBA)

PARKINSONISM/ DEMENTIA

HSGP: EARLY

VSGP: LATE

HSGP> VSGP

HORIZONTAL GAZE ROUND THE HOUSE

OCULOMOTOR APRAXIA

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POLG1

ATAXIA/ NEUROPATHY

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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

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SCA8 (ATXN8OS, CTA/ CTG REPEATS)

SMALL REPEATS/ EARLY ONSET

PARKINSONISM 

LARGE REPEATS/ LATE ONSET

ATAXIA

PHENOTYPE

PSP/ CBS

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SCA28

PTOSIS/ PARKINSONISM

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SCA34/38(ELOVL5)

CPEO/DEAFNESS

RX: DHA

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SCA48(STUB1)

SPASTICITY/ ATAXIA

OPTIC ATROPHY

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VERTICAL SUPRANUCLEAR GAZE PALSY

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CORTICAL DISORDERS

PROGRESSIVE SUPRANUCLEAR PALSY

CORTICAL BASAL SYNDROME

FRONTOTEMPORAL DEMENTIA 

LEWY BODY DEMENTIA

ALZHEIMER'S DISEASE

HUNTINGTON'S DISEASE

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BASAL GANGLIA DISORDERS

LYSOSOMAL

NP-C 

GM2 (TAY SACH)

 

AMINOACIDURIA

GLUTARIC ACIDURIA  

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NEUROACANTHOCYTOSIS 

ChAC (VPS13A)
 

BRAIN MINERALIZATION DISORDERS

WILSON'S DISEASE

KUFOR RAKEB 

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MONOGENIC PARKINSONISM

VPS35

FBXO7

SYNJ1

LRRK2

PERRY (DCTN1)

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OTHERS

DRPLA
 

CEREBELLAR

POLG1 MUTATIONS

SCA3

SCA8

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SPINAL CORD/ TRACTS

SAX1

SPG7

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DYSMORPHISM

18P DEL
 

AUTOIMMUNE

ANTI MA1/ MA2 AB
RETT (MECP2)

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INFECTIONS

WHIPPLE DISEASE

NEUROSYPHILIS

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CONVERGENCE REDUCED

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ABETALIPOPROTEINAEMIA

MEDIAL RECTUS PALSY

REDUCED CONVERGENCE

SACCADES: SLOW/ HYPOMETRIC

OKN: ABSENT FAST PHASE

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PROGRESSIVE SUPRANUCLEAR PALSY

VSGP/ PARKINSONISM

SQUARE WAVE JERKS 

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OPSOCLONUS-MYOCLONUS

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NEUROBLASTOMA

CHILDREN

LAB: URINE VMA/ METANEPHRINES INCREASED

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RI AB

AGE OF ONSET >40YRS

SUBACUTE ONSET PARKINSONISM

PSP PHENOTYPE

OCULOPALATAL-MYOCLONUS

NEOPLASIA: BREAST/ OVARY

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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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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

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GABA-B RECEPTOR AB

ADULT/ CHILDHOOD OMA​

CHOREA/ SEIZURES

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GLYCINE RECEPTOR AB

HYPEREKPLEXIA/ PERM

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KELCH LIKE PROTEIN (KLH11 AB)

RHOMBENCEPHALITIS

ATAXIA/ DEAFNESS/VERTIGO

TESTICULAR SEMINOMA

BRAINSTEM/ MTL / DENTATE HYPERINTENSITY

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POST-INFECTIOUS

 

IDIOPATHIC

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VESTIBULAR

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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

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SCA3 (ATXN3 CAG)

ATAXIA/ PARKINSONISM/DYSTONIA

VESTIBULAR DYSFUNCTION

CPEO/ BULGING EYES

OPHTHALMOPARESIS

SPASTICITY/ AMYOTROPHY

FACIAL LINGUAL ACTION INDUCED FASCICULATIONS 

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WERNICKE' S ENCEPHALOPATHY

ATAXIA/UPBEAT NYSTAGMUS

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FRIEDREICH'S ATAXIA

ATAXIA/ NEUROPATHY

MACROSACCADIC OSCILLATIONS

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PARANEOPLASTIC

NEUROENDOCRINAL