SYSTEMIC INVOLVEMENT
ATAXIA-HEART
ATAXIA-DILATED CARDIOMYOPATHY
(DNAJC19)
MRI: CEREBELLAR ATROPHY
WHITE MATTER HYPERINTENSITY
ATAXIA-PANCYTOPENIA SYNDROME (SAMD9L)
ATAXIA/ VISION FIXATION PROBLEMS
PYRAMIDAL SIGNS
MRI: CBL ATROPHY
WHITE MATTER HYPERINTENSITY
ATAXIA - SKIN
ATAXIA - ERYTHROKERATODERMA
SCA34 (ELOVL4)
AGE OF ONSET <50YRS
HOT CROSS BUN SIGN
FIGURATIVE HYPERKERATOSIS
TRANSIENT AREAS OF ERYTHEMA
MRI: CEREBELLAR ATROPHY
PELLAGRA
NIACIN (VIT B3) DEFICIENCY
DEMENTIA
PHOTOSENSITIVITY DERMATITIS
DIARRHOEA
BIOTINIDASE DEFICIENCY
RASH/ ECZEMA/ HAIR LOSS
XERODERMA PIGMENTOSUM
PHOTOSENSITIVITY
SQUAMOUS CELL CARCINOMA SKIN
CELIAC DISEASE
DERMATITIS HERPETIFORMIS
ADRENOLEUKODYSTROPHY
HYPER-PIGMENTATION
ATAXIA TELANGIECTASIA
TELENGIECTASIA
REFSUM DISEASE
ICHTHYOSIS
HYPERPIGMENTATION
PHOTOSENSITIVITY
TELENGIECTASIA
EPISODIC ATAXIA
KCNA1
EA1
ACETAZOLAMIDE USED IN EA2/EA1
70% RESPONDERS
CACNA1
EA2
ALLELIC TO SCA6
EPISODIC ATAXIA
DOWN BEAT NYSTAGMUS/ VERTIGO/ MIGRAINE
PRECIPITATED BY PHYSICAL AND MENTAL STRESS
ACETAZOLAMIDE EA2/EA1 70% RESPOND
DALFAMPRIDINE USEFUL
EA4
AGE OF ONSET <40YRS
CHROMOSOME 12q
DURATION - MINS
EA5 (CACNB4)
AGE OF ONSET <50YRS
DURATION - HRS
EA6 (SLC1A3)
AGE OF ONSET <60YRS
DURATION - HRS-DAYS
DARS2
EXERCISE ATAXIA
LEUKOENCEPHALOPATHY/ BRAINSTEM
SPINAL CORD/ LACTATE INCREASED
SCN2A
MYOCLONUS/ SEIZURES
SCA27 (FGF14)
PRRT2
COMMON IN INDIAN AND CHINESE
SECONDS TO MINS DURATION
LIMBS > NECK OR FACE
BENIGN FAMILIAL INFANTILE EPILEPSY
INFANTILE CONVULSIVE
CHOREATHETOSIS (ICCA)
ABSENCE SEIZURE
PAROXYSMAL TORTICOLLIS
EPISODIC ATAXIA/ PED
TRIGGERS: STARTLE/ HYPERVENTILATION/ EXERCISE
RX: CARBAMAZEPINE
GLUT1 (SLC2A1)
CHILDHOOD - ADULT ONSET
SLC2A1 MUTATIONS (90%)
PAROXYSMAL/ FIXED DYSTONIA
PAROXYSMAL EXERCISE INDUCED DYSTONIA
PAROXYSMAL NON KINESOGENIC DYSTONIA
EPISODIC ATAXIA
RESISTANT EPILEPSY/ MENTAL RETARDATION
DYSTONIA/ ATAXIA
CRISS CROSS GAIT/ SPASTICITY
WEAKNESS/HEADACHE/ VOMITING
TRIGGERS: FAST/INFECTIONS
LAB: CSF<60MG/DL
CSF TO BLOOD GLUCOSE RATIO: 0.2 - 0.59
INCREASE CSF LACTATE
DYT12 (ATP1A3)
CAPOS
CEREBELLAR ATAXIA/ PES CAVUS
OPTIC ATROPHY/ HEARING LOSS
ALTERNATING HEMIPLEGIA OF CHILDHOOD
PAROXYSMAL
HEMIPLEGIA/ QUADRIPARESIS/ DYSTONIA
JOUBERT SYNDROME & RELATED DISORDERS
27 GENES (TMEM67/ CEP290)
OCULO-RENAL SYNDROME
RETINITIS PIGMENTOSA/ COLOBOMA
COGNITION/ LIVER/ COACH SYN
RX: ACETAZOLAMIDE MAY BE USEFUL
TREMOR WITH ATAXIA
CORTICAL/ SUBCORTICAL
COCKAYNE SYNDROME (ERCC6)
CHILDHOOD LEUKODYSTROPHY
ATAXIA/ SPASTICITY/ TREMOR
CATARACT/ PENDULAR NYSTAGMUS
EXOPHTHALMOS/ RETINAL DYSTROPHY
MRI: PUTAMEN/ DENTATE CALCIFICATION
CORTICAL CALCIFICATION
DYSMYELINATION
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
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ATAXIA - RENAL INVOLVEMENT
ERDHEIM CHESTER DISEASE LANGERHANS HISTIOCYTOSIS
RAPIDLY PROGRESSIVE ATAXIA
HAIRY KIDNEY SIGN ON CT
MRI:
DENTATE TI HYPERINTENSITY
ATAXIA - DIARRHOEA
DPPX6 AB
THORACIC STIFFNESS
BRAIN STEM INVOLVEMENT/ STARTLE
PARKINSONISM (PSP PHENOTYPE)
ATAXIA
DIARRHOEA/CONSTIPATION
WEIGHT LOSS
CELIAC DISEASE
ATAXIA/ LEG MYOCLONUS
NEUROPATHY/ DIARRHOEA
GOBBI SYNDROME: CEC SYNDROME
CELIAC DISEASE/ SEIZURES/ BILATERAL
MRI: OCCIPITAL CALCIFICATIONS
LAB: ANTI-TTG ANTIBODIES
WHIPPLE'S DISEASE
OCULOMASTICATORY SKELETAL MYORHYTHMIA
DEMENTIA/ SUPRANUCLEAR OPHTHALMOPLEGIA
MENINGITIS/ CONFUSION/ HEADACHES
PSP PHENOTYPE: PARKINSONISM, UPGAZE RESTRICTION
VERTICAL SACCADE SLOWING
CONVERGENT DIVERGENT NYSTAGMUS (1HZ)
THE ABSENCE OF SQUARE WAVE JERKS
MYOCLONUS/ CHOREA/ MYORHYTHMIA (40%)
ATAXIA (10%)
ARTHRALGIA/ DIARRHOEA/ WEIGHT LOSS
LYMPHADENOPATHY
CAN PRESENT WITHOUT GI SYMPTOMS
DIAGNOSIS:
DUODENAL BIOPSY
CSF: PAS MACROPHAGES/ NORMAL CYTOLOGY(60%)
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