SPG
SPG4 (SPAST)
​
SPG3A
​
SPG31
ONSET CHILDHOOD TO ADULTHOOD
AMYOTROPHY/ PES CAVUS
​
​
​
COGNITION/SEIZURES
​
CORTICAL/ SUBCORTICAL
CSF1R (HDLS)
AGE OF ONSET <50YRS
HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH SPHEROIDS
PARKINSONISM/ ATAXIA
ADULT ONSET LEUKODYSTROPHY
​
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
​
BASAL GANGLIA
PHENYLKETONURIA (PAH)
CHILDHOOD - ADULT ONSET
DEMENTIA/ PARKINSONISM
SPASTIC PARAPARESIS/ TREMOR
MRI: LEUKODYSTROPHY
RX: PHENYLALANINE RESTRICTED DIET
SAPROPTERIDIN DIHYDROCHLORIDE (KUVAN)
MRI: ATROPHY/WMH
​
SPINAL CORD/ TRACTS
SPG11
COGNITIVE IMPAIRMENT/ EPILEPSY
PSEUDOBULBAR INVOLVEMENT
ATAXIA/ PARKINSONISM
LEVODOPA REPONSIVE
RETINAL DEGENERATION
NEUROPATHY/ PES CAVUS
MRI: THIN CORPUS CALLOSUM
​
SPG15
COGNITIVE IMPAIRMENT
PARKINSONISM
LEVODOPA REPONSIVE
RETINAL DEGENERATION
NEUROPATHY
MRI: THIN CORPUS CALLOSUM
​
SCL30A10/ SCL39A14 (MN TRANSPORTER)
HYPERMANGANESEMIA
BEHAVIORAL CHANGES
PARKINSONISM/ DYSTONIA
SPASTIC PARAPARESIS/ FINE TREMOR
COCKWALK:
TOE WALK/ ERECT SPINE/ ELBOW FLEXED
ALSO SEEN IN SCA3/ PKAN
LAB: POLYCYTHEMIA/ CIRRHOSIS (SCL30A10)
MRI: GPI HYPERINTENSITY (T1)
RX: CHELATION WITH EDTA/ D -PENICILLAMINE
​
​
PARKINSONISM
​
CORTICAL/ SUBCORTICAL
CSF1R (HDLS)
AGE OF ONSET <50YRS
HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH SPHEROIDS
PARKINSONISM/ ATAXIA
ALL ADULT ONSET LEUKODYSTROPHY
​
DOPAMINE PATHWAY
GCH1
HSP PHENOTYPE
INFANTILE HYPOTONIA
TOE WALKING
CEREBELLUM/ TRACTS
CEREBROTENDINOSIS XANTHOMATOSIS
VARIABLE AGE OF PRESENTATION
COGNITIVE DECLINE
ATAXIA/ DYSTONIA/ PARKINSONISM
SPASTICITY/ NEUROPATHY/ PES CAVUS
CATARACT/ DIARRHOEA
MRI: POSTERIOR LIMB INTERNAL CAPSULE
CEREBRAL PEDUNCLES
ANTERIOR PONS HYPERINTENSITY
RX: CHENODEOXYCHOLIC ACID 250MG TID
​
SPINAL CORD/ TRACTS
HEREDITARY SPASTIC PARAPARESIS
SPG7
AGE OF ONSET <50 YRS
ATAXIA/ OPHTHALMOPARESIS
AMYOTROPHY/ PARKINSONISM
WADLING GAIT
​
SPG8
PAROXYSMAL EXERCISE DYSTONIA
WADDLING GAIT
​
SPG11
COGNITIVE IMPAIRMENT
PSEUDOBULBAR INVOLVEMENT
ATAXIA/ PARKINSONISM
LEVODOPA REPONSIVE
RETINAL DEGENERATION
NEUROPATHY/ PES CAVUS
MRI: THIN CORPUS CALLOSUM
​
SPG15
COGNITIVE IMPAIRMENT
PARKINSONISM
LEVODOPA REPONSIVE
RETINAL DEGENERATION
NEUROPATHY
MRI: THIN CORPUS CALLOSUM
BASAL GANGLIA
PARKINSON'S DISEASE (GENETIC)
PARKIN
AUTONOMIC/DYSTONIA/PSYCHIATRY
FOOT DYSTONIA ON EXERTION
FOOT TREMOR
​
PINK
AUTONOMIC/DYSTONIA/PSYCHIATRY
​
DJ1
CATARACT/ AMYOTROPHY
HEARING
​
FBX07
PYRAMIDAL/ PSYCHIATRY/ CHOREA
VSGP
​
MINERAL DEPOSITION SYNDROMES
PKAN (PANK2)
TYPICAL PKAN:
AGE OF ONSET <12YRS
DYSARTHRIA/ DYSTONIA/ OPHISTOTONUS
PRAYING MANTIS SIGN/ CHOREA
PARKINSONISM/ SPASTICITY/ OPTIC ATROPHY
RETINITIS PIGMENTOSA (25%)
ACANTHOCYTES (8%)
ATYPICAL PKAN:
EARLY CHILDHOOD TO LATE ADULTHOOD
SLOWER PROGRESSION
NEUROPSYCHIATRIC MANIFESTATIONS
OCD/ IMPULSIVITY/ DEPRESSION
PALILALIA/ TICS
CAN MIMIC JUVENILE PARKINSONISM
CAN MIMIC TOURETTE SYNDROME
RX: DEFERIPRONE 30MG/KG/DAY
MAY BE USEFUL (MIXED RESULTS)
DBS MAY BE USEFUL
​
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 RESPOSIVE
​
FAHN/ SPG35
SPASTICITY/ DYSTONIA
OPTIC ATROPHY
COGNITION/ EPILEPSY/ VSGP
MRI: BRAIN STEM ATROPHY
​
MPAN
DYSTONIA/ PARKINSONISM
SPASTICITY
BILATERAL OPTIC ATROPHY
AXONAL NEUROPATHY
​
SENDA (BPAN) (WDR45)
BIPHASIC CLINICAL PROFILE
CHILDHOOD ONSET:
COGNITIVE DECLINE/ RETT LIKE PHENOTYPE
AUTISM/ STEREOTYPE/ SEIZURES
ADOLESCENCE OR ADULTHOOD ONSET:
SPASTICITY/ PARKINSONISM/ DYSTONIA
OTHER FEATURES:
SEIZURES/ LENNOX GESTAUT SYNDROME
BILATERAL OPTIC ATROPHY
RX: LEVODOPA PARTIALLY RESPONSIVE
​
COPAN (COASY)
SLOWLY PROGRESSIVE
DYSTONIA/ PARKINSONISM
SPASTICITY/ AXONAL NEUROPATHY
EYE OF TIGER SIGN
​
VAC14
AGE OF ONSET 6-15YRS
COGNITION
ATAXIA/ SPASTICITY
RETINITIS PIGMENTOSA
​
KUFOR RAKEB SYNDROME (ATP13A2)
PARK9/ SPG78
COGNITION/ PARKINSONISM/ VSGP
VISUAL HALLUCINATION
OCULOGYRIC CRISIS
SPG78: LATE SPASTICITY WITHOUT PARKINSONISM
FACIAL-FAUCIAL-FINGER-MYOCLONUS
​
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
​
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
​
WILSON DISEASE
LIVER/ NEUROLOGICAL/ PSYCHIATRY
DYSTONIA/ CHOREA/ PARKINSONISM
DEPRESSION/ OCD/ PHOBIAS
PROTEINURIA/ ARTHRITIS/SUNFLOWER CATARACT
CARDIOMYOPATHY/ ARRHYTHMIAS
​
SCL30A10/ SCL39A14 (MN TRANSPORTER)
HYPERMANGANESEMIA
BEHAVIORAL CHANGES
PARKINSONISM/ DYSTONIA
SPASTIC PARAPARESIS/ FINE TREMOR
COCKWALK:
TOE WALK/ ERECT SPINE/ ELBOW FLEXED
ALSO SEEN IN SCA3/ PKAN
LAB: POLYCYTHEMIA/ CIRRHOSIS (SCL30A10)
MRI: GPI HYPERINTENSITY (T1)
RX: CHELATION WITH EDTA/ D -PENICILLAMINE
​
AMINO-ORGANIC ACIDURIA
PHENYLKETONURIA (PAH)
CHILDHOOD - ADULT-ONSET
DEMENTIA/ PARKINSONISM
SPASTIC PARAPARESIS/ TREMOR
MRI: LEUKODYSTROPHY
RX: PHENYLALANINE RESTRICTED DIET
SAPROPTERIDIN DIHYDROCHLORIDE (KUVAN)
MRI: ATROPHY/WMH
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​
BASAL GANGLIA
PRKN/ DJ1
PRESENTATION AS SPASTICITY (10%)
​
PINK1
SPASTICITY PARKINSONISM
​
CEREBELLUM/ TRACTS
CEREBROTENDINOSIS XANTHOMATOSIS
VARIABLE AGE OF PRESENTATION
COGNITIVE DECLINE
ATAXIA/ DYSTONIA/ PARKINSONSIM
SPASTICITY/ NEUROPATHY
CATARACT/ PES CAVUS
DIARRHOEA
​
SCA2 (ATXN2 CAG)
OPHTHALMOPLEGIA
SLOW SACCADES
SENSORY NEUROPATHY
​
SCA3 (ATXN3 CAG)
ATAXIA/ PARKINSONISM/DYSTONIA
CPEO/ BULGING EYES
SPASTICITY/ AMYOTROPHY
FACIAL LINGUAL ACTION INDUCED FASCICULATIONS
​
SPINAL CORD/ TRACTS
SPG5
SENSORY ATAXIA
​
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
​
SCAR48/SCAR16 (STUB1)
SPASTICITY/ NEUROPATHY
HYPOGONADISM
​
CHOREA
​
BASAL GANGLIA
PARKINSON'S DISEASE (GENETIC)
FBX07
PYRAMIDAL/ PSYCHIATRY
CHOREA/ VSGP
​
MINERAL DEPOSIT DISORDERS
PKAN (PANK2)
TYPICAL PKAN:
AGE OF ONSET <12YRS
DYSARTHRIA/ DYSTONIA/ OPISTHOTONUS
PRAYING MANTIS SIGN/ CHOREA
PARKINSONISM/ SPASTICITY/ OPTIC ATROPHY
RETINITIS PIGMENTOSA (25%)
ACANTHOCYTES (8%)
ATYPICAL PKAN:
EARLY CHILDHOOD TO LATE ADULTHOOD
SLOWER PROGRESSION
NEUROPSYCHIATRIC MANIFESTATIONS
OCD/ IMPULSIVITY/ DEPRESSION
PALILALIA/ TICS
CAN MIMIC JUVENILE PARKINSONISM
CAN MIMIC TOURETTE SYNDROME
RX: DEFERIPRONE 30MG/KG/DAY
MAY BE USEFUL (MIXED RESULTS)
DBS MAY BE USEFUL
​
PLAN (PLA2G6)
DYSTONIA/ PARKINSONISM
ATAXIA/ SPASTICITY
LEVODOPA-INDUCED EARLY DYSKINESIA
INVOLVING LOWER FACE
TRUNCAL DYSTONIA
PHENOTYPES:
DYSTONIA PARKINSONISM
SPASTIC PARAPARESIS
CEREBELLAR ATAXIA
​
SENDA (BPAN) (WDR45)
BIPHASIC CLINICAL PROFILE
CHILDHOOD-ONSET:
COGNITIVE DECLINE/RETT-LIKE PHENOTYPE
AUTISM/ STEREOTYPE/ SEIZURES
ADOLESCENCE OR ADULTHOOD ONSET:
SPASTICITY/ PARKINSONISM/ DYSTONIA
RARELY CHOREA
OTHER FEATURES:
SEIZURES/ LENNOX GESTAUT SYNDROME
BILATERAL OPTIC ATROPHY
RX: LEVODOPA PARTIALLY RESPONSIVE
​
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
​
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
​
SPINAL CORD/ TRACTS
HEREDITARY SPASTIC PARAPARESIS
SPG48 (AP5Z1)
COGNITIVE IMPAIRMENT
CHOREA/ SPASTICITY
SENSORY MOTOR NEUROPATHY
ATAXIA/ DYSTONIA/ PARKINSONISM
THIN CORPUS CALLOSUM
​
SPG58
CHOREA/ SPASTICITY
NEUROPATHY
​
CORTICAL/ SUBCORTICAL
METACHROMATIC LEUKODYSTROPHY
(ARSA/ PSAP)
ATAXIA/ SPASTICITY/ COGNITION
DEMYELINATING NEUROPATHY
HYPER-REFLEXIA
MRI: PERIVENTRICULAR WMH
TIGROID PATTERN
​
KRABBE (GALC)
ATAXIA/ SPASTICITY/ COGNITION
DEMYELINATING PERIPHERAL NEUROPATHY
MRI: CST/ MCP HYPERINTENSITIES
​
BASAL GANGLIA
MPAN
DYSTONIA/ PARKINSONISM
SPASTICITY
BILATERAL OPTIC ATROPHY
AXONAL NEUROPATHY
​
CEREBELLUM/ TRACTS
CEREBROTENDINOSIS XANTHOMATOSIS
VARIABLE AGE OF PRESENTATION
COGNITIVE DECLINE
ATAXIA/ DYSTONIA/ PARKINSONISM
SPASTICITY/ NEUROPATHY/ PES CAVUS
CATARACT/ DIARRHOEA
MRI: POSTERIOR LIMB INTERNAL CAPSULE
CEREBRAL PEDUNCLES
ANTERIOR PONS HYPERINTENSITY
RX: CHENODEOXYCHOLIC ACID 250MG TID
​
SPINAL CORD/ TRACTS
SPAX1 (VAMP1)
AGE OF ONSET <20Y
DYSTONIA/ VSGP/ HEAD JERKS
PES CAVUS
​
SPG7
OPHTHAMLOPARESIS
PARKINSONISM
AMYOTROPHY/ WADDLING GAIT
​
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
​
SPG26 (B4GALNT1)
PES CAVUS/ SCOLIOSIS
DYSTONIA/ ATAXIA/AMYOTROPHY
​
SPG31
AMYOTROPHY/ PES CAVUS
​
SPG48 (AP5Z1)
COGNITIVE IMPAIRMENT
CHOREA/ SPASTICITY
SENSORY MOTOR NEUROPATHY
ATAXIA/ DYSTONIA/ PARKINSONISM
THIN CORPUS CALLOSUM
​
ARSACS (SACS)
RETINAL NERVE FIBER AND GANGLION LAYER THICKENING/ PERIPAPILLARY RETINAL STRIATIONS
​
ADRENOMYELONEUROPATHY
MOST COMMON PHENOTYPE OF ALD
SPASTICITY/ VIBRATION LOSS
PERIPHERAL NEUROPATHY
PREDOMINANTLY AXONAL
CAN BE DEMYELINATING
​
SENSORY ATAXIA
SPG5 (CYP7B1)
SENSORY ATAXIA
​
DYSMORPHISM
​
SPINAL CORD/ TRACTS
SPG22 (SLC16A2)
SCOLIOSIS/ JOINT CONTRACTURE/ MICROCEPHALY
MARFANOID FEATURES
ELONGATED FACE/ LARGE EAR
DYSTONIA/ ATAXIA/AMYOTROPHY
​
SPG26 (B4GALNT1)
PES CAVUS/ SCOLIOSIS
DYSTONIA/ ATAXIA/AMYOTROPHY
​
SPG47 (AP4B1)
DYSTONIA
STEREOTYPICAL LAUGHTER
MICROCEPHALY/ PES PLANUS
​
SPORADIC/ METABOLIC
​
DEFICIENCY
COPPER DEFICIENCY
LATE ADULTHOOD ONSET
SIMILAR TO B12 DEFICIENCY MYELOPATHY
RISK FACTORS:
FEMALE SEX/ UPPER GI SURGERY
MALABSORPTION SYNDROMES
LAB: CYTOPENIA/ ANAEMIA
LOW SERUM AND URINE COPPER
LOW CERULOPLASMIN
​
B12 DEFICIENCY
MYELOPATHY/ NEUROPATHY
DEMENTIA/ OPTIC NEUROPATHY
POSTERIOR COLUMN INVOLVED
SEVER CASES ANTERIOR COLUMN INVOLVED
​
INFECTIONS
HTLV1
TROPICAL SPASTIC PARAPARESIS
PAINFUL SPASTIC PARAPARESIS
SLOWLY PROGRESSIVE
​
HIV
LATERAL AND POSTERIOR COLUMNS INVOLVED​
SIMILAR TO B12 DEFICIENCY MYELOPATHY
LOWER LIMBS WEAKNESS AND SPASTICITY
BLADDER INVOLVED
SYPHILIS
OTHERS
DURAL AVM
PROGRESSIVE MYELOPATHY
RADICULOPATHY
CAN HAVE ACUTE PRESENTATIONS
​
PRIMARY LATERAL SCLEROSIS
PROGRESSIVE SPASTIC PARAPARESIS
MAY HAVE ASYMMETRICAL ONSET
UPPER LIMBS INVOLVED LATER
LATE STAGES DYSARTHRIA AND DYSPHAGIA
​
​
AUTOIMMUNE
​
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
LAB: IgG INDEX INCREASED
>50YRS: 8%+VE GAD POSITIVE
​
GLYCINE RECEPTOR
VISUAL HALLUCINATIONS
​
AMPHIPHYSIN
NEUROPATHY/ ENCEPHALOPATHY
MYELOPATHY/STIFF PERSON SYNDROME
CEREBELLAR ATAXIA
NEOPLASIA: SMALL CELL LUNG CARCINOMA
​
GABA-A RECEPTOR AB​
GENERALIZED CHOREA
OROFACIAL CHOREA
CATATONIA
PHENOTYPE MAY BE SIMILAR TO NMDA ENCEPHALITIS
MRI: MULTIFOCAL CORTICAL SUBCORTICAL WHITE MATTER HYPERINTENSITY
​
​DPPX6 AB
COGNITION
THORACIC STIFFNESS
PARKINSONISM (PSP PHENOTYPE)
BRAIN STEM INVOLVEMENT
GI DYSAUTONOMIA
DIARRHOEA/ WEIGHT LOSS
TREMOR/ MYOCLONUS/ HYPEREKPLEXIA
SEIZURES/ PARKINSONISM/ ATAXIA
​
IgLON5 AB
SLEEP PROBLEMS:
OSA/RBD/NREM/ STRIDOR
OCULAR:
SACCADIC INTRUSIONS/ VSGP
SYMPTOMS:
COGNITION/SEIZURES/ENCEPHALOPATHY
PARKINSONISM/DYSTONIA/ATAXIA
OROMANDIBULAR DYSTONIA
OROFACIAL DYSKINESIA
HYPEREKPLEXIA
MYORHYTHMIA/ TREMOR
AUTONOMIC DYSFUNCTION
DIABETES INSIPIDUS/ MYOKYMIA
PHENOTYPES
CBS/ PSP/MSA/HD/SPS/MND
​
RI AB
AGE OF ONSET >40YRS
SUBACUTE ONSET PARKINSONISM
PSP PHENOTYPE
OCULOPALATAL-MYOCLONUS
NEOPLASIA: BREAST/ OVARY
​
SATOYOSHI SYNDROME
PAINFUL SPASMS
PERIPHERAL NERVE HYPEREXCITABILITY
FASCICULATIONS/ MYOKYMIA
ALOPECIA/ ENDOCRINOPATHY
DIARRHOEA
LAB: ANA POSITIVE
HEREDITARY SPASTIC PARAPARESIS
SPG3A (ATL1)
AUTOSOMAL DOMINANT
SPG4 + SPG3A > 50% OF AD HSP
​
SPG4 (SPAST)
AUTOSOMAL DOMINANT
SPG4 + SPG3A > 50% OF AD HSP
SPG7
AGE OF ONSET <50 YRS
ATAXIA/ OPHTHALMOPARESIS
AMYOTROPHY/ PARKINSONISM
​
SPG8
PAROXYSMAL EXERCISE DYSTONIA
WADDLING GAIT
​
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
​
SPG22 (SLC16A2)
SCOLIOSIS/ JOINT CONTRACTURE
MICROCEPHALY/ MARFANOID FEATURES
ELONGATED FACE/ LARGE EAR
DYSTONIA/ ATAXIA/AMYOTROPHY
​
SPG26 (B4GALNT1)
PES CAVUS/ SCOLIOSIS
DYSTONIA/ ATAXIA/AMYOTROPHY
​
SPG31
AMYOTROPHY/ PES CAVUS
​
SPG35
SPASTICITY/ COGNITIVE IMPAIRMENT
THIN CORPUS CALLOSUM
WHITE MATTER HYPERINTENSITY
​
SPG47 (AP4B1/ AP4M1/AP4E1/AP4S1)
DYSTONIA
STEREOTYPICAL LAUGHTER
MICROCEPHALY/ PES PLANUS
​
SPG48 (AP5Z1)
COGNITIVE IMPAIRMENT
CHOREA/ SPASTICITY
SENSORY MOTOR NEUROPATHY
ATAXIA/ DYSTONIA/ PARKINSONISM
THIN CORPUS CALLOSUM
​
SPG58/ SPAX2 (KIF1C)
CHOREA/ SPASTICITY
ATAXIA/ TREMOR
CERVICAL DYSTONIA
​
​