SACCADES/ INTRUSIONS​/ NYSTAGMUS
SACCADIC INTRUSIONS
SCA24
​
HYPERMETRIC SACCADES
SCA1/SCA6/SCA8/SCA20
FRIEDREICH'S ATAXIA
HYPOMETRIC SACCADES
LOCA/SCA3/SCA17
OCULOMOTOR VERMIS
REDUCED SACCADIC VELOCITY
SCA1/SCA2/SCA3/SCA7
PPRF BURST NEURONS
GAZE EVOKED NYSTAGMUS
SCA1/SCA3/SCA6
​
SQUARE WAVE JERKS
SCA3
FRIEDREICH'S ATAXIA
VSGP/ REDUCED BLINKS
SCA3
​
MACROSACC OSCILLATIONS
FRIEDREICH'S ATAXIA
​
REBOUND NYSTAGMUS
FRIEDREICH'S ATAXIA
​
VOR-SUPPRESSION
FRIEDREICH'S ATAXIA
CANVAS
​
UPBEAT NYSTAGMUS
HYPOMAGNESEMIA
​
WERNICKE ENCEPHALOPATHY
GAD AB
​
DOWN NYSTAGMUS
GAD AB
​
CV JUNCTION ANOMALY
EA2/ SCA6 (CACN2)
ARNOLD CHIARI MALFORMATION
NYSTAGMUS INCREASE ON VALSALVA MANEUVER
​
OCULOMOTOR APRAXIA
ATAXIA TELANGIECTASIA
ATAXIA/ DYSTONIA/ CHOREA
MYOCLONUS/ PARKINSONISM
​
AOA1
ATAXIA/ DYSTONIA/ CHOREA
MYOCLONUS/ PARKINSONISM
​
AOA2
ATAXIA/ DYSTONIA/ CHOREA
MYOCLONUS/ PARKINSONISM
​
JOUBERT SYNDROME (CEP290)
​
ATAXIA TELANGIECTASIA LIKE DISORDER (MRE11A/PCNA)
ATAXIA/ COGNITION
OCULOMOTOR APRAXIA
LAB: ALFA-FETOPROTEIN NORMAL
MRI: CEREBELLAR ATROPHY
RX: LEVODOPA
​
ATAXIA WITH VITAMIN E DEFICIENCY (TTPA)
VIT-E DEFICIENCY
TITUBATION
ATAXIA/ PERIPHERAL NEUROPATHY
RETINITIS PIGMENTOSA/ MACULAR ATROPHY
​
GAUCHER'S DISEASE
PARKINSONISM/ DEMENTIA
ATAXIA
​
AFG3L2
SPASTICITY/ ATAXIA
OPTIC ATROPHY
​
AOA, 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
VERTICAL SUPRANUCLEAR GAZE PALSY
NIEMANN PICK TYPE C
VSGP/ ATAXIA
PARKINSONSIM
​
WHIPPLE'S DISEASE
OCULOMASTICATORY SKELETAL MYORHYTHMIA
DEMENTIA/ SUPRANUCLEAR OPHTHALMOPLEGIA
MENINGITIS/ CONFUSION/ HEADACHES
PSP PHENOTYPE: PARKINSONISM, UPGAZE RESTRICTION
VERTICAL SACCADE SLOWING
CONVERGENT DIVERGENT NYSTAGMUS (1HZ)
MYOCLONUS/ CHOREA/ MYORHYTHMIA (40%)
ATAXIA (10%)
ARTHRALGIA/ DIARRHOEA/ WEIGHT LOSS
LYMPHADENOPATHY
CAN PRESENT WITHOUT GI SYMPTOMS
DIAGNOSIS:
DUODENAL BIOPSY
CSF: PAS MACROPHAGES/ NORMAL CYTOLOGY(90%)
TROPHERYMA WHIPPLEI PCR: CSF/ BIOPSY
MRI:
FOCAL/ MULTIFOCAL WM LESIONS IN MES TEMPORAL LOBE/ THALAMUS/ HYPOTHALAMUS/ MIDBRAIN
PERIVENTRICULAR WMH/ PACHYMENINGITIS (10%)
CEREBRAL ATROPHY
RX:
TMP-SMX, DOXYCYCLINE/ 3RD GEN CEPHALOSPORINS
​
GAUCHER'S DISEASE (GBA)
PARKINSONISM/ DEMENTIA
HSGP> VSGP
​
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
​
SCA28 (AFG3L2 MISSENSE MUTATIONS)
OPHTHALMOPLEGIA/ PTOSIS
ATAXIA/ SPASTICITY
​
SCA34/38(ELOVL5)
CPEO/DEAFNESS
RX: DHA
​
SCA48(STUB1)
SPASTICITY/ ATAXIA
OPTIC ATROPHY
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OPSOCLONUS-MYOCLONUS
NEUROBLASTOMA
CHILDREN
LAB: URINE VMA/ METANEPHRINES INCREASED
​
RI ANTIBODIES
AGE OF ONSET >40YRS
OCULOPALATAL-MYOCLONUS
​
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)
FACE 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 AS VESTIBULAR AND PURSUIT BOTH ARE ABNORMAL
SENSORY MOTOR NEUROROPATHY
GANGLIONOPATHY
COUGH/AUTONOMIC DYSFUNCTION
​
SCA3 (ATXN3 CAG)
ATAXIA/ PARKINSONISM/DYSTONIA
VESTIBULAR DYSFUNCTION
CPEO/ BULGING EYES
OPHTHALMOPARESIS
SPASTICITY/ AMYOTROPHY
FACIAL LINGUAL ACTION INDUCED FASCICULATIONS
​
WERNICKE
ATAXIA/ UP BEAT NYSTAGMUS
​
FRIEDREICH'S ATAXIA
ATAXIA/ NEUROPATHY
MACROSACCADIC OSCILLATIONS
​
PARANEOPLASTIC
NEUROENDOCRINAL
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