CORTEX/ SUBCORTICAL
C9ORF72 (ALS-FTD)
AGE OF ONSET 8-80YRS
PARKINSONISM/ CHOREA
DYSTONIA/ ATAXIA (RARE)
30% PRESENT WITH MOVEMENT DISORDER
PHENOTYPES:
HD/FTD
PSP/ CBS/ MSA
MND/ PLS
GAUCHER TYPE 3
JUVENILE GAUCHER DISEASE
HSGP
CONVERGENT SQUINT (VI NERVE PALSY)
COGNITION/ EPILEPSY/ PME/ PMA
ATAXIA/ SPASTICITY
FACE/ LIMB DYSTONIA
ALEXANDER DISEASE (GFAP)
ONSET CAN BE IN LATE ADULTHOOD
BRAIN STEM SIGNS
DYSARTHRIA/ DYSPHONIA
PARKINSONISM/ ATAXIA
PALATAL MYOCLONUS
AUTONOMIC DYSFUNCTION
INFECTION
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(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
BASAL GANGLIA
ACERULOPLASMINEMIA
AGE OF ONSET 30-70YRS
OROFACIAL DYSTONIA/ CERVICAL DYSTONIA
COGNITIVE DECLINE/ ATAXIA/ TREMOR/ CHOREA
PARKINSONISM (20%)
DIABETES MELLITUS/ LIVER DYSFUNCTION
RETINAL DEGENERATION
LAB: ABSENT CERULOPLASMIN
HETEROZYGOUS: MODERATELY REDUCED LEVEL
INCREASED FERRITIN
RX: DEFERIPRONE STARTING DOSE 15MG/KG/DAY
TWO DIVIDED DOSES
CAN TITRATE TO MAX 50MG/KG/DAY
PHLEBOTOMY 300ML EVERY 15 DAYS
NEUROFERRITINOPATHY
ORO-MANDIBULAR DYSKINESIA (85%)
JAW DYSTONIA/ BLEPHAROSPASM
FOCAL LOWER LIMB CHOREA /DYSTONIA
ACUTE BALLISMUS
LESS COMMON: ATAXIA/ PARKINSONISM/ TICS/TREMOR
LIP-SMACKING/ WRITER'S CRAMP
FRONTAL SUBCORTICAL COGNITIVE DYSFUNCTION
PLAN (PLA2G6)
DYSTONIA/ PARKINSONISM
ATAXIA/ SPASTICITY
LEVODOPA-INDUCED EARLY DYSKINESIA
INVOLVING LOWER FACE
TRUNCAL DYSTONIA
PHENOTYPES:
DYSTONIA PARKINSONISM
SPASTIC PARAPARESIS
CEREBELLAR ATAXIA
RX: LEVODOPA PARTIALLY RESPONSIVE
FAHR 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
GM1 GANGLIOSIDOSIS
TYPE 1 (INFANTILE)
COGNITION/ SEIZURES/ CORNEAL OPACITY
TYPE 2 (JUVENILE)
DYSTONIA/ COGNITION/CHERRY RED SPOT
ORGANOMEGALY
TYPE 3 (ADULT)
DYSTONIA/ SPINAL BONY ABNORMALITY
ANGIOKERATOMA (TRUNK)
LIKE IN FABRY'S DISEASE
CEREBELLUM/ TRACTS
MULTIPLE SYSTEM ATROPHY
ATAXIA/ PARKINSONISM
AUTONOMIC DYSFUNCTION
MYOCLONUS
SPINOCEREBELLAR ATAXIA
SCA3 (ATXN3 CAG)
ATAXIA/ PARKINSONISM/DYSTONIA
CPEO/ BULGING EYES
SPASTICITY/ AMYOTROPHY
FACIAL LINGUAL ACTION INDUCED FASCICULATIONS
SCA8 (ATXN8OS, CTA/ CTG REPEATS)
SMALL REPEATS/ EARLY ONSET
PARKINSONISM
LARGE REPEATS/ LATE ONSET
ATAXIA
PHENOTYPE
PSP/ CBS
SCA14 (PRKCG)
AGE OF ONSET 3-70YRS
COGNITION/ AXIAL MYOCLONUS
PARKINSONISM
HEARING LOSS (<10%)
SCA 17 (TBP CAG REPEAT)
PSYCHIATRIC SYMPTOMS/ DEMENTIA
ATAXIA/ SPASTICITY/ CHOREA
PARKINSONISM
SCA23
ATAXIA/ PARKINSONSIM
FXTAS
COGNITION/PARKINSONISM
ATAXIA/ TREMOR
NEUROPATHY
AUTONOMIC DYSFUNCTION
CEREBROTENDINOSIS XANTHOMATOSIS
VARIABLE AGE OF PRESENTATION
COGNITIVE DECLINE
ATAXIA/ DYSTONIA/ PARKINSONSIM
SPASTICITY/ NEUROPATHY
CATARACT/ PES CAVUS
XANTHOMAS ACHILLES TENDON
DIARRHOEA
MRI: T2/ FLAIR HYPERINTENSITIES
PERIVENTRICULAR
POSTERIOR LIMB INTERNAL CAPSULE
CEREBRAL PEDUNCLES
ANTERIOR PONS
RX: CHENODEOXYCHOLIC ACID 250MG TID
ATAXIA WITH OCULOMOTOR APRAXIA
ATAXIA TELANGIECTASIA
TELENGIECTASIA OVER EYES
AND SUN EXPOSED AREAS
OCULOMOTOR APRAXIA
DYSTONIA/ CHOREA/ MYOCLONUS
PARKINSONISM/ ATAXIA
TREMOR/ NEUROPATHY
LYMPHOMA/ LEUKEMIA (EARLY)
SOLID TUMOUR (LATE)
LAB: LOW IGA/ IGG LEVELS
AOA1 (APTX)
AGE OF ONSET 2-10YRS
OCULOMOTOR APRAXIA
DYSTONIA/ CHOREA/ ATAXIA
NEUROPATHY
LAB: ALBUMIN REDUCED
TOTAL CHOLESTEROL INCREASED
NORMAL FETO-PROTEIN LEVELS
AOA2 (SETX)
AGE OF ONSET 3-30YRS
OCULOMOTOR APRAXIA
DYSTONIA/ CHOREA/ ATAXIA
NEUROPATHY
LAB: ALBUMIN REDUCED
TOTAL CHOLESTEROL INCREASED
INCREASED IGA/ IGG/ ALPA FETO-PROTEIN
MITOCHONDRIAL
POLG1
ATAXIA/NEUROPATHY
PARKINSONISM (SANDOS)
RX: DOPAMINE AGONIST/ LEVODOPA
SPINAL CORD/ TRACTS
HEREDITORY SPASTIC PARAPARESIS
SPG7
AGE OF ONSET <50 YRS
ATAXIA/ OPHTHALMOPARESIS
PARKINSONISM
AMYOTROPHY/ WADDLING GAIT
DOPAMINE RESPONSIVE PARKINSONISM
SPG11
AGE OF ONSET 10-35 YRS
COGNITIVE IMPAIRMENT/ EPILEPSY
PSEUDOBULBAR INVOLVEMENT
ATAXIA/ PARKINSONISM
LEVODOPA REPONSIVE
RETINAL DEGENERATION
MOTOR AXONAL NEUROPATHY/ PES CAVUS
MRI: THIN CORPUS CALLOSUM
SPG15
AGE OF ONSET 10-35 YRS
COGNITIVE IMPAIRMENT
PARKINSONISM
LEVODOPA REPONSIVE
RETINAL DEGENERATION
MOTOR AXONAL NEUROPATHY
MRI: THIN CORPUS CALLOSUM