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