SPASTICITY

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BASAL GANGLIA DISORDERS

MONOGENIC PARKINSON'S DISEASE

PARKIN

AUTONOMIC/DYSTONIA/PSYCHIATRY

FOOT DYSTONIA ON EXERTION

FOOT TREMOR

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PINK

AUTONOMIC/DYSTONIA/PSYCHIATRY

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DJ1

CATARACT/ AMYOTROPHY

HEARING LOSS

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FBX07

PYRAMIDAL/ PSYCHIATRY

CHOREA/ VSGP

 

MINERAL DEPOSITION DISORDERS

PKAN (PANK2) 

TYPICAL PKAN:

AGE OF ONSET <12YRS

DYSARTHRIA/ DYSTONIA/ OPISTOTONUS

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

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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

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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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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

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COPAN (COASY)

SLOWLY PROGRESSIVE

DYSTONIA/ PARKINSONISM

SPASTICITY/ AXONAL NEUROPATHY

MRI: EYE OF TIGER SIGN 

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KUFOR RAKEB SYNDROME (ATP13A2) 

PARK9/ SPG78

COGNITION/ PARKINSONISM/ VSGP

VISUAL HALLUCINATION

OCULOGYRIC CRISIS

SPG78: LATE SPASTICITY WITHOUT PARKINSONISM

FACIAL-FAUCIAL-FINGER-MYOCLONUS

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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

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CEREBELLAR DISORDERS

BILE ACID DISORDER

CEREBROTENDINOSIS XANTHOMATOSIS

VARIABLE AGE OF PRESENTATION

COGNITIVE DECLINE

ATAXIA/ DYSTONIA/ PARKINSONISM

SPASTICITY/ NEUROPATHY/ PES CAVUS

CATARACT/ DIARRHOEA

XANTHOMAS ACHILLES TENDON​

MRI: POSTERIOR LIMB INTERNAL CAPSULE

CEREBRAL PEDUNCLES

ANTERIOR PONS HYPERINTENSITY

RX: CHENODEOXYCHOLIC ACID 250MG TID

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SPINAL CORD DISORDERS

HEREDITARY SPASTIC PARAPARESIS

SPG11

COGNITIVE IMPAIRMENT

PSEUDOBULBAR INVOLVEMENT

ATAXIA/ PARKINSONISM

LEVODOPA REPONSIVE

RETINAL DEGENERATION

NEUROPATHY/ PES CAVUS

MRI: THIN CORPUS CALLOSUM

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SPG15

COGNITIVE IMPAIRMENT

PARKINSONISM

LEVODOPA REPONSIVE

RETINAL DEGENERATION

NEUROPATHY

MRI: THIN CORPUS CALLOSUM

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SPG7

AGE OF ONSET <50 YRS

ATAXIA/ OPHTHALMOPARESIS

AMYOTROPHY/ PARKINSONISM

WADDLING GAIT