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
FAHN/ SPG35
SPASTICITY/ DYSTONIA
OPTIC ATROPHY
COGNITION/ EPILEPSY/ VSGP
MRI: BRAIN STEM ATROPHY
MPAN
DYSTONIA/ PARKINSONISM
SPASTICITY
BILATERAL OPTIC ATROPHY
AXONAL NEUROPATHY
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
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
SPAX2 (KIF1C)
SPASTICITY/ FASCICULATIONS
MRI: POSTERIOR LIMB INTERNAL CAPSULE HYPERINTENSITY
SPAX3 (MARS2)
AGE OF ONSET 2-59YRS
SPASTICITY/ HEARING LOSS
MRI: CEREBELLA ATROPHY
SPAX4 (MTPAP)
AGE OF ONSET 2-27YRS
OPTIC ATROPHY
SPASTICITY/ SPASTIC TONGUE
SPAX5/ SCA28 (AFG3L2),
AGE OF ONSET 3-76YRS
OPHTHALMOPARESIS
SAX1
VSGP
SPASTICITY
SPAX8 (NKX6-2)
CHILDHOOD ONSET
HEARING IMPAIRMENT/ ATAXIA
DYSTONIA
MRI: HYPOMYELINATION
HEREDITARY SPASTIC PARAPARESIS
SPG7
ATAXIA/ PARKINSONISM
OPHTHALMOPARESIS
AMYOTROPHY
WADDLING GAIT
CEREBELLUM/ AFFERENTS
SPINOCEREBELLAR ATAXIA
SCA2 (ATXN2 CAG)
OPHTHALMOPLEGIA
SLOW SACCADES
SENSORY NEUROPATHY
SCA3 (ATXN3 CAG)
OPHTHALMOPLEGIA/ BULGING EYES
PARKINSONISM
SPASTICITY/ AMYOTROPHY
SCA48/ SCAR16 (STUB1)
ATAXIA/ COGNITION
EXECUTIVE DYSFUNCTION
PSYCHIATRIC SYMPTOMS
HYPOGONADISM
OPHTHALMOPARESIS
DYSTONIA/ SPASTICITY
MRI: DENTATE HYPERINTENSITY (T2)
CRAB SIGN
POSTERIOR VERMIS ATROPHY
ARSACS (SACS)
ATAXIA/ SPASTICITY
NEUROPATHY
RETINAL NERVE FIBER AND GANGLION LAYER THICKENING/ PERIPAPILLARY RETINAL STRIATIONS
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
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
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
GLYCINE RECEPTOR AB
HYPEREKPLEXIA/ PERM
VISUAL HALLUCINATIONS
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
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
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
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
GJC2 MUTATIONS
PELIZAEUS MERZBACHER LIKE DISORDERS
CLCN2 MUTATIONS
EPISODIC ATAXIA
MRI: POST LIMB INTERNAL CAPSULE/ DENTATE/ MCP/ CEREBELLAR/ CEREBRAL HYPERINTENSITY (T2)
POLR3B MUTATIONS
TREMOR ATAXIA SYNDROME
HYPOMYELINATION/ HYPODENTITION
HYPOGONADISM
H-ABC/ DYT4 (TUBB4)
HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA NAD CEREBELLUM
DYSTONIA/ ATAXIA/ COGNITION
WHISPERING DYSPHONIA
MICROCEPHALY/ SPASTICITY
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
KRABBE (GALC)
ATAXIA/ SPASTICITY/ COGNITION
DEMYELINATING PERIPHERAL NEUROPATHY
MRI: CST/ MCP HYPERINTENSITIES