BASAL GANGLIA
BRAIN MINERALIZATION DISORDERS
PLAN (PLA2G6)
DYSTONIA/ PARKINSONISM
ATAXIA/ SPASTICITY
LEVODOPA INDUCED EARLY DYSKINESIA
INVOLVING LOWER FACE
TRUNCAL DYSTONIA
PHENOTYPES:
DYSTONIA PARKINSONISM
SPASTIC PARAPARESIS
CEREBELLAR ATAXIA
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FAHN/ SPG35
SPASTICITY/ DYSTONIA
OPTIC ATROPHY
COGNITION/ EPILEPSY/ VSGP
MRI: BRAIN STEM ATROPHY
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MPAN
DYSTONIA/ PARKINSONISM
SPASTICITY
BILATERAL OPTIC ATROPHY
AXONAL NEUROPATHY
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PELIZAEUS MERZBACHER
ONSET IN CHILDHOOD
SURVIVAL TILL LATE ADULTHOOD
SPASTIC ATAXIA
SPG2 (PURE SPASTIC PARAPARESIS)​
MULTIFOCAL DEMYELINATING NEUROPATHY
COGNITION/ TITUBATION
DYSTONIA/ CHOREA OF EXTREMITIES
HEAD AND UPPER LIMB TREMOR
MRI: HYPOMYELINATION
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COCKAYNE SYNDROME (ERCC6)
CHILDHOOD LEUKODYSTROPHY
ATAXIA/ SPASTICITY/ TREMOR
CATARACT/ PENDULAR NYSTAGMUS
EXOPHTHALMOS/ RETINAL DYSTROPHY
MRI: PUTAMEN/ DENTATE COTICAL CALCIFICATIONS
DYSMYELINAITON
SPINAL CORD/ TRACTS
SPAX (SPASTIC ATAXIA)
SPAX1 (VAMP1)
PTOSIS/ VSGP/ LID RETRACTION
AGE OF ONSET 10-20YRS
SPASTICITY/ PES CAVUS​
SENSORY NEUROPAHTY
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SPAX2 (KIF1C)
SPASTICITY/ FASCICULATIONS
MRI: POSTERIOR LIMB INTERNAL CAPSULE HYPERINTENSITY
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SPAX3 (MARS2)
AGE OF ONSET 2-59YRS
SPASTICITY/ HEARING LOSS
MRI: CEREBELLA ATROPHY
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SPAX4 (MTPAP)
AGE OF ONSET 2-27YRS
OPTIC ATROPHY
SPASTICITY/ SPASTIC TONGUE
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SPAX5/ SCA28 (AFG3L2),
AGE OF ONSET 3-76YRS
OPHTHALMOPARESIS
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SAX1
VSGP
SPASTICITY
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SPAX8 (NKX6-2)
CHILDHOOD ONSET
HEARING IMPAIRMENT/ ATAXIA
DYSTONIA
MRI: HYPOMYELINATION
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HEREDITARY SPASTIC PARAPARESIS
SPG7
ATAXIA/ PARKINSONISM
OPHTHALMOPARESIS
AMYOTROPHY
WADDLING GAIT
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CEREBELLUM/ AFFERENTS
SPINOCEREBELLAR ATAXIA
SCA2 (ATXN2 CAG)
OPHTHALMOPLEGIA
SLOW SACCADES
SENSORY NEUROPATHY
SCA3 (ATXN3 CAG)
OPHTHALMOPLEGIA/ BULGING EYES
PARKINSONISM
SPASTICITY/ AMYOTROPHY
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SCA48/ SCAR16 (STUB1)
ATAXIA/ COGNITION
EXECUTIVE DYSFUNCTION
PSYCHIATRIC SYMPTOMS
HYPOGONADISM
OPHTHALMOPARESIS
DYSTONIA/ SPASTICITY
MRI: DENTATE HYPERINTENSITY (T2)
CRAB SIGN
POSTERIOR VERMIS ATROPHY
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ARSACS (SACS)
ATAXIA/ SPASTICITY
NEUROPATHY
RETINAL NERVE FIBER AND GANGLION LAYER THICKENING/ PERIPAPILLARY RETINAL STRIATIONS
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CEREBROTENDINOSIS XANTHOMATOSIS
VARIABLE AGE OF PRESENTATION
COGNITIVE DECLINE
ATAXIA/ DYSTONIA/ PARKINSONSIM
SPASTICITY/ NEUROPATHY/ PES CAVUS
CATARACT/ DIARRHOEA
MRI: POSTERIOR LIMB INTERNAL CAPSULE
CEREBRAL PEDUNCLES
ANTERIOR PONS HYPERINTENSITY
RX: CHENODEOXYCHOLIC ACID 250MG TID
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FRIEDREICH'S ATAXIA (FXN)
ATAXIA/ DYSARTHRIA/ SCOLIOSIS
DIABETES (30%)
HEARING LOSS (20%)
HYPERTROPHIC CARDIOMYOPATHY ARRHYTHMIA/ CHF
LATE ONSET FRIEDREICH'S ATAXIA
(GAA REPEAT X25 GENE)
LOFA 25-40YRS/ VLOFA >40YRS
RETAINED REFLEXES/ SPASTICITY
MRI: CEREBELLAR ATROPHY LATE STAGES
SPINAL CORD ATROPHY
DENTATE IRON ACCUMULATION AND ATROPHY
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AUTOIMMINE
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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GLYCINE RECEPTOR AB
HYPEREKPLEXIA/ PERM
VISUAL HALLUCINATIONS
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AMPHIPHYSIN
NEUROPATHY/ ENCEPHALOPATHY
MYELOPATHY/STIFF PERSON SYNDROME
CEREBELLAR ATAXIA
NEOPLASIA: SMALL CELL LUNG CARCINOMA
DPPX6 AB
THORACIC STIFFNESS
BRAIN STEM INVOLVEMENT
GI DYSAUTONOMIA
DIARRHOEA/CONSTIPATION
WEIGHT LOSS
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RI AB
AGE OF ONSET >40YRS
SUBACUTE ONSET PARKINSONISM
PSP PHENOTYPE
OCULOPALATAL-MYOCLONUS
NEOPLASIA: BREAST/ OVARY
CORTICAL/ SUBCORTICAL
CSF1R (HDLS)
HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH SPHEROIDS
JUVENILE-ADULT
PARKINSONISM/ ATAXIA/SEIZURES
10% ADULT ONSET LEUKODYSTROPHY
MRI: BRAIN MICRO CALCIFICATIONS
CONFLUENT WMH
PERIVENTRICULAR PUNCTATE DWI RESTRICTION
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DARS1
AUTOSOMAL RECESSIVE/ CHILDHOOD ONSET
LEUKODYSTROPHY
HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT
COGNITIVE DECLINE​
MICROCEPHALY
ATAXIA/ SPASTICITY
MRI HYPERINTENSITY IN CEREBRUM
CEREBELLUM/ BRAIN STEM. SPINAL CORD
AARS2
PREMATURE OVARIAN FAILURE
CLINICAL & IMAGING SIMILAR TO CSF1R
VWMD (EIF2B)
ATAXIA/ SPASTICITY
MRI: CYSTIC CHANGES
ADRENOLEUKODYSTROPHY
AGE OF ONSET < 30 YRS
SPASTICITY/ COGNITION
ADRENAL INSUFFUCUENCY
PHENOTYPES:
CEREBRAL PALSY
ADRENOMYELONEUROPATHY
ADRENAL INSUFFICIENCY​
MRI: PARIETO-OCCIPITAL WMH
SPLENIUM HYPERINTENSITIES
LAB: INCREASED VLCFA
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ADRENOMYELONEUROPATHY
MOST COMMON PHENOTYPE OF ALD
SPASTICITY/ VIBRATION LOSS
PERIPHERAL NEUROPATHY
PREDOMINANTLY AXONAL
CAN BE DEMYELINATING
HYPOMYELINATION DISORDERS
PELIZAEUS MERZBACHER DISEASE (PLP1)
ONSET IN CHILDHOOD
SURVIVAL TILL LATE ADULTHOOD
SPASTIC ATAXIA
SPG2 (PURE SPASTIC PARAPARESIS)​
MULTIFOCAL DEMYELINATING NEUROPATHY
COGNITION/ TITUBATION
DYSTONIA/ CHOREA OF EXTREMITIES
HEAD AND UPPER LIMB TREMOR
MRI: HYPOMYELINATION
INTERNAL CAPSULE/ OPTIC RADIATION
PROXIMAL CORONAL RADIATA
CEREBELLAR ATROPHY
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GJC2 MUTATIONS
PELIZAEUS MERZBACHER LIKE DISORDERS
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CLCN2 MUTATIONS
EPISODIC ATAXIA
MRI: POST LIMB INTERNAL CAPSULE/ DENTATE/ MCP/ CEREBELLAR/ CEREBRAL HYPERINTENSITY (T2)
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POLR3B MUTATIONS
TREMOR ATAXIA SYNDROME
HYPOMYELINATION/ HYPODENTITION
HYPOGONADISM
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H-ABC/ DYT4 (TUBB4)
HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA NAD CEREBELLUM
DYSTONIA/ ATAXIA/ COGNITION
WHISPERING DYSPHONIA
MICROCEPHALY/ SPASTICITY
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SPAX8 (NKX6-2)
CHILDHOOD ONSET
HEARING IMPAIRMENT/ ATAXIA
DYSTONIA/ SPASTICITY
MRI: HYPOMYELINATION
METACHROMATIC LEUKODYSTROPHY (ARSA/ PSAP)
ATAXIA/ SPASTICITY/ COGNITION
DEMYELINATING PERIPHERAL NEUROPATHY
HYPER-REFLEXIA
MRI: PERIVENTRICULAR WMH/ TIGROID PATTERN
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KRABBE (GALC)
ATAXIA/ SPASTICITY/ COGNITION
DEMYELINATING PERIPHERAL NEUROPATHY
MRI: CST/ MCP HYPERINTENSITIES