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CORTEX/  SUBCORTICAL DISORDERS

HUNTINGTON DISEASE (HTT 4p16.3)

CHOREA (90%)

PSYCHIATRIC MANIFESTATIONS

PARKINSONISM/ DYSTONIA

ATAXIA/TICS

NO FAMILY HISTORY IN 8%

HDL1 (PRPN)

EARLY TO MID ADULTHOOD

FAMILIAL PRION DISEASE

PHENOTYPES:

GENETIC CREUTZFELDT JACKOB DISEASE

FAMILIAL FATAL INSOMNIA

GERSTMANN STRAUSSLER DISEASE (PRPN MUTATION)

PSYCHIATRIC MANIFESTATIONS

CHOREA/ PARKINSONISM

ATAXIA/ MYOCLONUS

HDL2 (CAG REPEAT >40 JPH3)

EARLY TO MID ADULTHOOD

CLINICALLY SIMILAR TO HUNTINGTON'S DISEASE

PSYCHIATRIC MANIFESTATIONS

DEMENTIA/ ATAXIA

CHOREA/ PARKINSONISM

C9ORF72 (ALS-FTD) 

AGE OF ONSET 8-80YRS

PHENOTYPES:

HD/ PSP/ CBS/ MSA/ FTD

PARKINSONISM/ CHOREA

DYSTONIA/ ATAXIA (RARE)

MND/ PLS

30% PRESENT WITH MOVEMENT DISORDER

OTHERS MEAN TIME TO MD 3.5YRS

CREUTZFELDT JACOB SYNDROME

EXTRAPYRAMIDAL/ PYRAMIDAL

CEREBELLAR/ VISUAL

AKINETIC MUTISM

LYSOSOMAL DISORDERS

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

NIEMANN PICK C DISEASE

VSGP/ GELASTIC CATAPLEXY

PARKINSONISM

ATAXIA/ DYSTONIA/ CHOREA

HEPATOSPLEENOMEGALY

THROMBOCYTOPENIA

BASAL GANGLIA

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

FAHR SYNDROME

NEUROPSYCHIATRIC/ SEIZURES/ HEADACHE

PARKINSONISM/ DYSTONIA/ CHOREA

ATAXIA/ TREMOR

SLC20A2

COGNITION/ HEADACHE/ SEIZURES

PARKINSONISM

PDGFB

COGNITION/ HEADACHE/ SEIZURES

PARKINSONISM/ ATAXIA/ CHOREA

PDGFRB

COGNITION/ HEADACHE/ SEIZURES

PARKINSONISM

XPR1

COGNITION/ HEADACHE

PARKINSONISM/ ATAXIA

MYORG

COGNITION/ PARKINSONISM/ ATAXIA

JAM2

COGNITION/ PARKINSONISM/ ATAXIA/ DYSTONIA

MRI: CALCIFICATION

BG/ THALAMUS/ CEREBELLUM/ WM

MYORG: CENTRAL PONS CALCIFICATION

CEREBELLUM/ CEREBELLAR AFFERENTS

SPINOCEREBELLAR DISORDERS

SCA2,3,6 AND 17 CAN HAVE VERY LATE AGE ONSET (> 70)

 

COGNITION

SCA8 (ATXN8 CAG REPEAT)

ATAXIA/ SPASTICITY

PSYCHIATRIC SYMPTOMS/ COGNITIVE DECLINE

SCA10 (ATXN10 CAG REPEAT)

ATAXIA/ EPILEPSY

 

SCA13 (KCNC3 MISSENSE MUTATIONS)

ATAXIA

INTELLECTUAL DISABILITY

SCA 17 (TBP CAG REPEAT)

PSYCHIATRIC SYMPTOMS/ DEMENTIA

ATAXIA/ SPASTICITY/ CHOREA

PARKINSONISM

AUTONOMIC DYSFUNCTION

SUPRANUCLEAR GAZE PALSY

PHENOTYPE

PSP/ MSA/ HUNTINGTON'S DISEASE 

 

SCA19/ SCA22 (KCND3 MUTATION/ DELETION)

COGNITION AFFECTED

MYOCLONUS

SCA48/ SCAR16 (STUB1)

ATAXIA/ COGNITION

EXECUTIVE DYSFUNCTION

PSYCHIATRIC SYMPTOMS

HYPOGONADISM

OPHTHALMOPARESIS

DYSTONIA/ SPASTICITY/ CHOREA

MRI: DENTATE HYPERINTENSITY (T2)

CRAB SIGN

POSTERIOR VERMIS ATROPHY

PARKINSONISM

SCA3 (ATXN3 CAG)

ATAXIA/ PARKINSONISM/DYSTONIA

CPEO/ BULGING EYES

SPASTICITY/ AMYOTROPHY

FACIAL LINGUAL ACTION INDUCED FASCICULATIONS 

SCA8 (ATXN8OS, CTA/ CTG REPEATS)

SMALL REPEATS/ EARLY ONSET

PARKINSONISM 

LARGE REPEATS/ LATE ONSET

ATAXIA

PHENOTYPE

PSP/ CBS

SCA 17 (TBP CAG REPEAT)

PSYCHIATRIC SYMPTOMS/ DEMENTIA

ATAXIA/ SPASTICITY/ CHOREA

PARKINSONISM

CHOREA

SCA 17 (TBP CAG REPEAT)

PSYCHIATRIC SYMPTOMS/ DEMENTIA

ATAXIA/ SPASTICITY/ CHOREA

PARKINSONISM

AUTONOMIC DYSFUNCTION

SUPRANUCLEAR GAZE PALSY

PHENOTYPE

PSP/ MSA/ HUNTINGTON'S DISEASE 

SCA48/ SCAR16 (STUB1)

ATAXIA/ COGNITION

EXECUTIVE DYSFUNCTION

PSYCHIATRIC SYMPTOMS

HYPOGONADISM

OPHTHALMOPARESIS

DYSTONIA/ SPASTICITY/ CHOREA

MRI: DENTATE HYPERINTENSITY (T2)

CRAB SIGN

POSTERIOR VERMIS ATROPHY

MYOCLONUS

SCA14 (PRKCG MISSENSE MUTATIONS)

ATAXIA/ MYOCLONUS

ATAXIA (PURE)

SCA5 (SPTBN2 DELETION/ MISSENSE)

ATAXIA

 

SCA6 (CACNA1A CAG REPEAT)

DOWNBEAT NYSTAGMUS

PURE CEREBELLAR ATAXIA

 

SCA15/ SCA16 (KCND3 MISSENSE MUTATIONS)

ATAXIA

SCA31 (BEAN1 INTRONIC TGGAA REPEAT)

ATAXIA

OCULAR SIGNS

SCA1 (ATXN2 CAG)

OPHTHALMOPLEGIA

SPASTICITY/ SENSORY NEUROPATHY

SCA2 (ATXN2 CAG)

OPHTHALMOPLEGIA

SLOW SACCADES

SENSORY NEUROPATHY

SCA3 (ATXN3 CAG)

OPHTHALMOPLEGIA/ BULGING EYES

PARKINSONISM

SPASTICITY/ AMYOTROPHY

 

SCA6 (CACNA1A CAG REPEAT)

DOWNBEAT NYSTAGMUS

PURE CEREBELLAR ATAXIA

 

SCA7 (ATXN7 CAG)

VISION LOSS

OPHTHALMOPLEGIA

SPASTICITY

SCA28 (AFG3L2  MISSENSE MUTATIONS)

OPHTHALMOPLEGIA/ PTOSIS

ATAXIA/ SPASTICITY

 

SCA37 (DAB1 INTRONIC ATTTC REPEAT)

ATAXIA

ABNORMAL VERTICAL EYE MOVEMENT

NEUROPATHY/ AMYOTROPHY

SCA1 (ATXN2 CAG)

OPHTHALMOPLEGIA

SPASTICITY/ SENSORY NEUROPATHY

 

SCA2 (ATXN2 CAG)

OPHTHALMOPLEGIA

SLOW SACCADES

SENSORY NEUROPATHY

 

SCA3 (ATXN3 CAG)

OPHTHALMOPLEGIA/ BULGING EYES

PARKINSONISM

SPASTICITY/ AMYOTROPHY

 

SCA36 (NOP56 INTRONIC GGCCTG REPEAT)

ATAXIA/ AMYOTROPHY

HEARING LOSS

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AUTOIMMMUNE

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

>50YRS: 8%+VE GAD POSITIVE

CASPR2 AB 

EPISODIC ATAXIA

NEUROMYOTONIA/ MYOKYMIA

CRMP5/ CV2 AB

PARKINSONISM/ ATAXIA/ CHOREA

AUTONOMIC DYSFUNCTION

MSP-P PHENOTYPE

BILATERAL OPTIC NEUROPATHY

SMALL CELL CARCINOMA LUNG

MRI: BASAL GANGLIA HYPERINTENSITY

PERIVENTRICULAR/ INTERNAL CAPSULE HYPERINTENSITY

AMPHIPHYSIN AB

NEUROPATHY/ ENCEPHALOPATHY

MYELOPATHY/STIFF PERSON SYNDROME

CEREBELLAR ATAXIA

NEOPLASIA: SMALL CELL LUNG CARCINOMA

 

GFAP AB

MENINGO-ENCEPHALO-MYELITIS

ATAXIA (30%)

TREMORS(30%)

PSYCHIATRIC(30%)

AUTONOMIC (30%)

DPPX6  AB

THORACIC STIFFNESS

BRAIN STEM INVOLVEMENT

GI DYSAUTONOMIA

DIARRHOEA/CONSTIPATION

WEIGHT LOSS

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

JAW CLOSING DYSTONIA

PSP PHENOTYPE

OCULOPALATAL-MYOCLONUS

NEOPLASIA: BREAST/ OVARY

YO AB

BREAST/ OVARY

HU AB

SMALL CELL LUNG CARCINOMA

TR/mGLuR1 AB

HODGKIN LYMPHOMA

VGCC AB

LAMBERT EATON SYNDROME

ZIC4 AB

SMALL CELL LUNG CARCINOMA

PCA2 (MAP-1B IgG ) 

ATAXIA/ COGNITION/ NEUROPATHY

SCLC 80%

TPO AB

STROKE/ ENCEPHALOPATHY

CSF ABNORMAL 80%

PROTEIN INCREASED

GQ1b AB

CANOMAD

CHRONIC ATAXIA NEUROPATHY, OPHTHALMOPLEGIA, IGM PARAPROTEINAEMIA

COLD AGGLUTININS

MILLER FISCHER SYNDROME

ATAXIA/OPHTHALMOPARESIS

BICKERSTAFF ENCEPHALITIS

SPASTICITY/UPGOING PLANTERS

GALOP SYNDROME

GAIT ATAXIA LATE ONSET POLYNEUROPATHY

LAB: M-BAND IGM

NEUROCHONDRIN IgG AB

MCP AND PONS HYPERINTENSITY

SEPTIN-5 AB

OSCILLOPSIA/ VERTIGO

METABOLIC/ SPORADIC 

VIT B1 DEFICIENCY (WERNICKE)

CONFUSION/ OPHTHALMOPARESIS

GAZE EVOKED/ UPBEAT NYSTAGMUS

PERIPHERAL NEUROPATHY

HYPOPHOSPHATEMIA

WERNICKE MIMIC

HYPOMAGNESEMIA 

ATAXIA/ UPBEAT NYSTAGMUS

VIT B6/VIT B12/ VIT E DEFICIENCY

HYPOTHYROIDISM

SUPERFICIAL HEMOSIDEROSIS

SYPHILIS

DEMENTIA/ PSYCHIATRIC MANIFESTATIONS

MYELOPATHY (TABES DORSALIS)

ARGYLL ROBERTSON PUPIL:

SMALL PUPILS/ NO DILATION IN DARK

NO REACTION TO LIGHT/ CONSTRICT WHEN FOCUSED 

RARE: PURE CEREBELLAR ATAXIA

DIAGNOSIS:

CSF: VDRL (INSENSITIVE)
CSF: TREPONEMAL ANTIBODY/ TPHA (HIGH SENSITIVE)

 

WHIPPLE'S DISEASE

OCULOMASTICATORY SKELETAL MYORHYTHMIA

DEMENTIA/ SUPRANUCLEAR OPHTHALMOPLEGIA

MENINGITIS/ CONFUSION/ HEADACHES

PSP PHENOTYPE: PARKINSONISM, UPGAZE RESTRICTION

VERTICAL SACCADE SLOWING

CONVERGENT DIVERGENT NYSTAGMUS (1HZ)

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

TOLUENE TOXICITY

HEPATOCEREBRAL SYNDROME

ATAXIA/ PARKINSONISM

MRI: GPI HYPERINTENSITY (T1)

MCP HYPERINTENSITY (T2)

CELIAC DISEASE

ATAXIA/ LEG MYOCLONUS

NEUROPATHY/ DIARRHOEA

GOBBI SYNDROME: CEC SYNDROME

CELIAC DISEASE/ SEIZURES/ BILATERAL

MRI: OCCIPITAL CALCIFICATIONS

LAB: ANTI-TTG ANTIBODIES

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