SPORADIC
MSA PHENOTYPES
MSA-P
AGE OF ONSET <70YRS
PARKINSONISM/ ATAXIA
AUTONOMIC DYSFUNCTION/ RBD
CAMPTOCORMIA/ ANTEROCOLLIS
MYOCLONUS/ STRIDOR/ COLD HANDS
​
MSA-C
AGE OF ONSET <70YRS
PARKINSONISM/ ATAXIA
AUTONOMIC DYSFUNCTION/ RBD
CAMPTOCORMIA/ ANTEROCOLLIS
MYOCLONUS/ STRIDOR/ COLD HANDS​
​
PSP PHENOTYPES
PSP-SR
AGE OF ONSET >40YRS
​
PSP-P
TWO VARIANTS
1. AXIAL> APPENDICULAR RIGIDITY AND LEVODOPA RESISTANT
2. PD LIKE, ASYMMETRICAL PARKINSONISM WITH TREMOR
LEVODOPA RESPONSIVE
VSGP DEVELOPS LATER
MILD/ LATE MIDBRAIN ATROPHY
​
PSP-C
CEREBELLAR ATAXIA
RBD < 10%
MAY BE CONFUSED WITH MSA-C
NO CEREBELLAR ATROPHY
​
​
PSP-PPA
NON-FLUENT PRIMARY PROGRESSIVE APHASIA
APRAXIA OF SPEECH
​
PSP-PAGF
PURE AKINESIA WITH GAIT FREEZING
​
PSP-CBS
CORTICOBASAL SYNDROME
​
PSP-BvFTD
BEHAVIORAL VARIANT OF FTD
STEELE RICHARDSON OLSZEWSKI SYNDROME
​
PSP- PLS
PRIMARY LATERAL SCLEROSIS
​
PSP-OCULAR
​
CBD PHENOTYPES
CBS
TWO OF
LIMB RIGIDIT OR AKINESIA
LIMB DYSTONIA
PLUS TWO OF
OROBUCCAL/ LIMB APRAXIA
CORTICAL SENSORY DEFICIT
ALIEN LIMB
PROBABLE CBS: ASYMMETRICAL
POSSIBLE CBS: MAY BE SYMMETRICAL
​
FBS
FRONTAL BEHAVIOR SPATIAL SYNDROME
TWO OUT OF FOLLOWING THREE:
EXECUTIVE DYSFUNCTION
VISUOSPATIAL DYSFUNCTION
BEHAVIOR OR PERSONALITY
​
NF-PPA
NON-FLUENT AGRAMMATIC PPA
GROPING DYSTORTED SPEECH​
​
PSP SYNDROME
VSGP/ EARLY FALLS
PSEUDOBULBAR SYMPTOM
NEED ONE OR MORE CBS FEATURES
SPORADIC
MSA PHENOTYPE
​
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
​
LYSOSOMAL
GAUCHER DISEASE (GBA)
GD1: ADULT GD
VARIED AGE PRESENTATION
COGINITION/ PARKINSONISM
TREMOR/ ATAXIA
INCREASED RISK FOR PD (10x)
POOR RESPONSE TO LEVODOPA
NO EYE MOVEMENT ABNORMALITY
ACUTE PAINFUL BONE CRISIS
LAB: ANAEMIA/ PANCYTOPENIA
THROMBOCYTOPENIA
HEPATOSPLEENOMEGALY
​
ALEXANDER DISEASE (GFAP)
AGE OF ONSET <70YRS
BRAIN STEM SIGNS
DYSARTHRIA/ DYSPHONIA
AUTONOMIC DYSFUNCTION/ PARKINSONISM/ ATAXIA
​
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
MSA
CEREBELLAR/ TRACTS
SCA2 (ATXN2 CAG)
OPHTHALMOPLEGIA
SLOW SACCADES
SENSORY NEUROPATHY
SCA3 (ATXN3 CAG)
OPHTHALMOPLEGIA
BULGING EYES
PARKINSONISM
SPASTICITY/ AMYOTROPHY
SCA17 (TBP)
ATAXIA
COGNITION
PARKINSONISM/ CHOREA
AUTONOMIC DYSFUNCTION
SUPRANUCLEAR GAZE PALSY
PHENOTYPE
PSP/ MSA/ HUNTINGTON'S DISEASE
​
SCA8 (ATXN8OS, CTA/ CTG REPEATS)
SMALL REPEATS/ EARLY ONSET:
PARKINSONISM
LARGE REPEATS/ LATE ONSET:
ATAXIA
PHENOTYPE
PSP/ CBS
​
SCA12
ATAXIA/ TREMOR
INDIAN AGARWAL FAMILY
​
SCA14 (PRKCG)
AGE OF ONSET 3-70YRS
COGNITION/ AXIAL MYOCLONUS
PARKINSONISM
HEARING LOSS (<10%)
​
SCA23
ATAXIA/ PARKINSONISM
​
FXTAS
COGNITION/PARKINSONISM
ATAXIA/ TREMOR
NEUROPATHY
AUTONOMIC DYSFUNCTION
​
​
PSP/CBS PHENOTYPE
​
CORTEX/ SUBCORTICAL
MAPT (FTDP-17)
AGE OF ONSET 25-65YRS
FRONTO-TEMPORAL DEMENTIA WITH PARKINSONISM
PHENOTYPE:
FTD/ NF-PPS/SEMANTIC-PPA
MND/ALS:
MRI: FRONTO-TEMPORAL ATROPHY
​
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
​
PGRN (FTDP-17)
AGE OF ONSET 45-85YRS
HALLUCINATIONS (25%)
NO MND
PHENOTYPE:
FTD/ NF-PPS/SEMANTIC-PPA
ALZHEIMER'S DISEASE
CBS/ PD/PDD/ LBD
​
TAR-DBP
PHENOTYPE:
FRONTO-TEMPORAL DEMENTIA
SEMANTIC DEMENTIA MORE COMMON
MNS/ALS (40%)
PARKINSONISM RARE
MRI: PREDOMINENTLY TEMPORAL ATROPHY
​
FUS
FRONTO-TEMPORAL DEMENTIA
MNS/ALS
MILD PARKINSONISM
​
CSF1R (HDLS)
AGE OF ONSET 15-45YRS
HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH SPHEROIDS
PARKINSONISM/ ATAXIA/SEIZURES
10% ADULT ONSET LEUKODYSTROPHY
MRI: BRAIN MICRO CALCIFICATIONS
CONFLUENT WMH
PERIVENTRICULAR PUNCTATE DWI RESTRICTION
​
CADASIL (NOTCH3)
STUTTERING COURSE
​
CEREBRAL AMYLOID ANGIOPATHY
PSP PHENOTYPE
​
GAUCHER DISEASE (GBA)
GD1: ADULT GD
CAN PRESENT AT ANY AGE
COGINITION/ PARKINSONISM
TREMOR/ ATAXIA
10 TIMES INCREASED RISK FOR PD
POOR RESPONSE TO LEVODOPA
NO EYE ABNORMALITY
ANAEMIA/ PANCYTOPENIA
THROMBOCYTOPENIA
HEPATOSPLEENOMEGALY
ACUTE PAINFUL BONE CRISIS
NIEMANN PICK C DISEASE
VSGP/ GELASTIC CATAPLEXY
ATAXIA/ DYSTONIA/ CHOREA
HEPATOSPLEENOMEGALY
THROMBOCYTOPENIA
​
PERRY (DCTN1)
PARKINSONISM/ PSYCHIATRY
WEIGHT LOSS/ HYPOVENTILATION
VSGP
​
SCA8 (ATXN8OS, CTA/ CTG REPEATS)
SMALL REPEATS/ EARLY ONSET:
PARKINSONISM
LARGE REPEATS/ LATE ONSET:
ATAXIA
PHENOTYPE
PSP/ CBS
​
​
PSP/ CBS
CEREBELLAR
SCA 17
ATAXIA/ COGNITION
PARKINSONISM/ CHOREA
AUTONOMIC DYSFUNCTION
SUPRANUCLEAR GAZE PALSY
PHENOTYPE
PSP/ MSA/ HUNTINGTON'S DISEASE
​
SCA8 (ATXN8OS, CTA/ CTG REPEATS)
SMALL REPEATS/ EARLY ONSET
PARKINSONISM
LARGE REPEATS/ LATE ONSET
ATAXIA
PHENOTYPE
PSP/ CBS
​
POLG1
ATAXIA/NEUROPATHY
PARKINSONISM WITH SANDOS PHENOTYPE
DOPAMINE AGONIST AND LEVODOPA RESPONSIVE
​
CTX (CYP27A1)
CATARACT/ DIARRHOEA
PES CAVUS
​
FOCAL NEUROMYOTONIA
CBS PHENOTYPE
PSEUDODYSTONIA
​
​
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PSP
DLB
BASAL GANGLIA
BRAIN MINERALIZATION DISORDERS
NEUROFERRITINOPATHY
ORO-MANDIBULAR DYSKINESIA (85%)
JAW DYSTONIA/ BLEPHAROSPASM
FOCAL LOWER LIMB CHOREA /DYSTONIA
ACUTE BALLISMUS
LIP-SMACKING/ WRITER'S CRAMP
FRONTAL SUBCORTICAL COGNITIVE DYSFUNCTION
​
ACERULOPLASMINEMIA
AGE OF ONSET 30-70YRS
OROFACIAL DYSTONIA/ CERVICAL DYSTONIA
COGNITIVE DECLINE/ ATAXIA
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
​
PLAN (PLA2G6)
DYSTONIA/ PARKINSONISM
ATAXIA/ SPASTICITY
LEVODOPA INDUCED EARLY DYSKINESIA
INVOLVING LOWER FACE
TRUNCAL DYSTONIA
PHENOTYPES:
DYSTONIA PARKINSONISM
SPASTIC PARAPARESIS
CEREBELLAR ATAXIA
​
FAHR SYNDROME
NEUROPSYCHIATRIC FEATURES
PARKINSONISM
SEIZURES/ CHOREA
​
LYSOSOMAL DISORDERS
GM1 GANGLIOSIDOSIS
TYPE 1 (INFANTILE)
COGNITION/ SEIZURES/ CORNEAL OPACITY
TYPE 2 (JUVENILE)
DYSTONIA/ COGNITION/ ORGANOMEGALY/ CHERRY RED SPOT
TYPE 3 (ADULT)
DYSTONIA/ SPINAL BONY ABNORMALITY
ANGIOKERATOMA (TRUNK)
LIKE IN FABRY'S DISEASE
​
NCL (TPP1)
AGE OF ONSET <20YRS
DEMENTIA/ SEIZURES/VISION
PURE ATAXIA
MRI: CEREBELLAR ATROPHY
​
MONOGENIC PARKINSONISM
SNCA
PYRAMIDAL/ COGNITION/PSYCHIATRY
MYOCLONUS/ AUTONOMIC
​
LRRK2
AGE OF ONSET 20-80YRS
GOOD RESPONSE TO LEVODOPA
​
PERRY (DCTN1)
PARKINSONISM/ PSYCHIATRY
WEIGHT LOSS/ HYPOVENTILATION
VSGP
​
PSP PHENOTYPE
​
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
​
MAPT (FTDP-17)
PSP-P/ PSP-RS PHENOTYPE
AGE OF ONSET 25-65YRS
FRONTO-TEMPORAL DEMENTIA
WITH PARKINSONISM
PHENOTYPE:
FTD/ NF-PPS/SEMANTIC-PPA
MND/ALS:
MRI: FRONTO-TEMPORAL ATROPHY
​
PGRN (FTDP-17)
AGE OF ONSET 45-85YRS
HALLUCINATIONS (25%)
NO MND
PHENOTYPE:
FTD/ NF-PPS/SEMANTIC-PPA
ALZHEIMER'S DISEASE
CBS/ PD/PDD/ LBD
MRI: FRONTO-TEMPORO-PARIETAL ATROPHY
​
TAR-DBP
PHENOTYPE:
FRONTO-TEMPORAL DEMENTIA
SEMANTIC DEMENTIA MORE COMMON
MNS/ALS (40%)
PARKINSONISM RARE
MRI: PREDOMINENTLY TEMPORAL ATROPHY
​
FUS
FRONTO-TEMPORAL DEMENTIA
MNS/ALS
MILD PARKINSONISM
​
APP
EARLY ONSET ALZHEIMER'S DISEASE
DLB PHENOTYPE
​
PSEN1/ PSEN2
EARLY ONSET ALZHEIMER'S
EARLY ONSET CBS
DLB PHENOTYPE
​
HUNTINGTON DISEASE (HTT 4p16.3)
CHOREA (90%)
PSYCHIATRIC MANIFESTATIONS
PARKINSONISM/ DYSTONIA
ATAXIA/TICS
NO FAMILY HISTORY IN 8%
​
PRION DISEASE (PRPN)
RAPID PROGRESSION
​
GAUCHER DISEASE (GBA)
GD1: ADULT GD
VARIED AGE PRESENTATION
COGINITION/ PARKINSONISM
TREMOR/ ATAXIA
INCREASED RISK FOR PD (10x)
POOR RESPONSE TO LEVODOPA
NO EYE MOVEMENT ABNORMALITY
ACUTE PAINFUL BONE CRISIS
LAB: ANAEMIA/ PANCYTOPENIA
THROMBOCYTOPENIA
HEPATOSPLEENOMEGALY
​
CADASIL (NOTCH3)
STUTTERING COURSE
​
CSF1R (HDLS)
AGE OF ONSET 15-45YRS
HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH SPHEROIDS
PARKINSONISM/ ATAXIA/SEIZURES
10% ADULT ONSET LEUKODYSTROPHY
MRI: BRAIN MICRO CALCIFICATIONS
CONFLUENT WMH
PERIVENTRICULAR PUNCTATE DWI RESTRICTION
​
CEREBRAL AMYLOID ANGIOPATHY
​
BASAL GANGLIA
LRRK2
AGE OF ONSET 20-80YRS
SNJ1
SEIZURE/ OCULOMOTOR/ COGNITION
DYSTONIA
​
FBXO7
PSP-P PHENOTYPE
PYRAMIDAL/ PSYCHIATRY/ CHOREA
VSGP
​
VPS35
VSGP/ PSP-P/ PERRY PHENOTYPE
​
PERRY (DCTN1)
PARKINSONISM/ PSYCHIATRY
WEIGHT LOSS/ HYPOVENTILATION
VSGP
​
NCL (TPP1)
AGE OF ONSET <20YRS
DEMENTIA/ SEIZURES/VISION LOSS​
CAN PRESENT AS PURE ATAXIA
MRI: CEREBELLAR ATROPHY
​
NIEMANN PICK C DISEASE
VSGP/ GELASTIC CATAPLEXY
ATAXIA/ DYSTONIA/ CHOREA
HEPATOSPLEENOMEGALY
THROMBOCYTOPENIA
CEREBELLAR
SCA3 (ATXN3 CAG)
OPHTHALMOPLEGIA
BULGING EYES
PARKINSONISM
SPASTICITY/ AMYOTROPHY
​
SCA8 (ATXN8OS, CTA/ CTG REPEATS)
SMALL REPEATS/ EARLY ONSET
PARKINSONISM (PSP PHENOTYPE)
LARGE REPEATS/ LATE ONSET
ATAXIA
​
SCA17 (TBP)
ATAXIA
COGNITION
PARKINSONISM/ CHOREA
AUTONOMIC DYSFUNCTION
SUPRANUCLEAR GAZE PALSY
PHENOTYPE
PSP/ MSA/ HUNTINGTON'S DISEASE
​
MITOCHONDRIAL
POLG1
ATAXIA/NEUROPATHY
PARKINSONISM WITH SANDOS PHENOTYPE
RX: DOPAMINE AGONIST AND LEVODOPA RESPONSIVE
BILE ACID DISORDER
CTX (CYP27A1)
CATARACT/ DIARRHOEA
PES CAVUS
ONSET <45 YRS
WILSON DISEASE
LIVER DYSFUNCTION
PSYCHIATRY MANIFESTATIONS
DYSTONIA/ CHOREA/ PARKINSONISM
DEPRESSION/ OCD/ PHOBIAS
PROTEINURIA/ ARTHRITIS/SUNFLOWER CATARACT
CARDIOMYOPATHY/ ARRYTHMIAS
​
CHOREA- ACANTHOCYTOSIS (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
​
NIEMANN PICK C DISEASE
VSGP/ GELASTIC CATAPLEXY
ATAXIA/ DYSTONIA/ CHOREA
HEPATOSPLENOMEGALY
THROMBOCYTOPENIA
​
HYPOPARATHYROIDISM
LOW CALCIUM LEVELS
​
NEUROSYPHILIS
​
INFECTIOUS
WHIPPLE DISEASE
PARKINSONISM < ATAXIA
MYORHYTHMIA
CHRONIC DIARRHOEA/ LARGE JOINT ARTHRITIS
(ANKLE/ KNEE/ WRIST)
EYE MOVEMENT:
CONVERGENCE RETRACTION NYSTAGMUS
VERTICAL SACCADES (UP>DOWN)
THE ABSENCE OF SQUARE WAVE JERKS
CURVED TRAJECTORY OF OBLIQUE SACCADES
PHENOTYPE: PSP/ ATAXIA
​
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)
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
PSP/CBS/ MSA PHENOTYPE
​
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 DISEASE (GBA)
GD1: ADULT GD
VARIED AGE PRESENTATION
COGINITION/ PARKINSONISM
TREMOR/ ATAXIA
INCREASED RISK FOR PD (10x)
POOR RESPONSE TO LEVODOPA
NO EYE MOVEMENT ABNORMALITY
ACUTE PAINFUL BONE CRISIS
LAB: ANAEMIA/ PANCYTOPENIA
THROMBOCYTOPENIA
HEPATOSPLEENOMEGALY
PERRY (DCTN1)
PARKINSONISM/ PSYCHIATRY
WEIGHT LOSS/ HYPOVENTILATION
VSGP
​
BILE ACID DISORDERS
CTX (CYP27A1)
CATARACT/ DIARRHOEA
PES CAVUS
​
MITOCHONDRIAL
POLG1
ATAXIA/NEUROPATHY
PARKINSONISM WITH SANDOS PHENOTYPE
RX: DOPAMINE AGONIST AND LEVODOPA RESPONSIVE
ATAXIA WITH OCULOMOTOR APRAXIA
ATAXIA TELANGIECTASIA
ATYPICAL PARKINSONISM
PARKINSONISM/ ORO-BUCCAL CHOREA
​​
FRIEDREICH'S ATAXIA PHENOTYPE
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
​
CANVAS (AAGGG REPEAT RFC1)
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 NEUROPATHY
GANGLIONOPATHY
COUGH/AUTONOMIC DYSFUNCTION
​
MITOCHONDRIAL
POLG1
ATAXIA/NEUROPATHY
PARKINSONISM WITH SANDOS PHENOTYPE
RX: DOPAMINE AGONIST AND LEVODOPA RESPONSIVE
BILE ACID DISORDERS
CEREBROTENDINOSIS XANTHOMATOSIS
VARIABLE AGE OF PRESENTATION
COGNITIVE DECLINE
ATAXIA/ DYSTONIA/ PARKINSONISM
SPASTICITY/ NEUROPATHY
CATARACT/ PES CAVUS/ DIARRHOEA
XANTHOMAS ACHILLES TENDON
MRI: T2/ FLAIR HYPERINTENSITIES
PERIVENTRICULAR
POSTERIOR LIMB INTERNAL CAPSULE
CEREBRAL PEDUNCLES
ANTERIOR PONS
RX: CHENODEOXYCHOLIC ACID 250MG TID
SPINAL CORD/ CST
ADRENOMYELONEUROPATHY
MSA-C LIKE PHENOTYPE
ADR INSUFFICIENCY/ BALDNESS
CUTANEOUS/ MUCOSAL
HYPERPIGMENTATION
​
SPG7
OPHTHALMOPARESIS
PARKINSONISM
AMYOTROPHY/ WADDLING GAIT
DOPAMINE RESPONSIVE (PARTIALLY)
​
CANVAS (RFC1)
PRESENT LIKE MSA
SENSORY NEURONOPATHY
VESTIBLAR DYSFUNCTION
DLB PHENOTYPE
​
PSEN1
AUTOSOMAL DOMINANT
EARLY ONSET ALZHEIMERS DISEASE
EARLY ONSET CBS
​
PSEN1/ PSEN2
EARLY ONSET ALZHEIMER'S
EARLY ONSET CBS
DLB PHENOTYPE
​
APP
EARLY ONSET ALZHEIMER'S DISEASE
DLB PHENOTYPE
​
GAUCHER DISEASE (GBA)
GD1: ADULT GD
VARIED AGE PRESENTATION
COGINITION/ PARKINSONISM
TREMOR/ ATAXIA
INCREASED RISK FOR PD (10x)
POOR RESPONSE TO LEVODOPA
NO EYE MOVEMENT ABNORMALITY
ACUTE PAINFUL BONE CRISIS
LAB: ANAEMIA/ PANCYTOPENIA
THROMBOCYTOPENIA
HEPATOSPLEENOMEGALY
NPH (SECONDARY)
​
PSP
​
LBD
​
ALZHEIMER'S DISEASE
​
CFAP43 MUTATION
FAMILIAL NPH
CILIARY DYSFUNCTION
RESPIRATORY INFECTIONS/ INFERTILITY
​
TAXANES CHEMOTHERAPY
MICROTUBULAR TOXIN
CILIARY DYSFUNCTION
​
​
