-
What does a DaT scan measure?
Striatal dopamine
-
Where can you pop the lead to cure essential tremor with DBS?
The Ventral intermediate nucleus of the thalamus (The VIM).
-
Opsoclonus-myoclonus syndrome in children?
- Associated with the Anti-Ri antibody
- usually due to a neuroblastoma of the adrenal gland.
- Need to do a CT chest abdo pelvis and urinary catecholamines.
Anti Ri is assoc with Lung, breast and gynae cancers in adults.
-
Whats is spasmus nutans?
- Titubation
- Nystagmus
- Torticollis
- Onset at 4-12 months
- resolves in 1-2 years without treatment.
-
Manganese?
- Accumulates in the basal ganglia if you're a welder, have biliary atresia or prolonged PEG fed.
- Causes Rx resistant parkinsonism and dystonia.
-
Corticobasal degeneration?
- Presents with Unilateral arm tremor, apraxia and rigidity. Then goes on to have cortical sensory loss and myoclonus (often stimulus sensitive).
- Imaging shows asymmetrical parietal lobe atrophy.
- No response to levodopa and relentlessly progressive
-
What is Lubag's disease
X linked parkinsonism dystonia in people of filipino origin fro the island of Panay
-
Viral illness prodrome then Parkinson's disease?
- Von Economo's disease.
- Encephalitis lethargica
-
Most common site for DBS in PD?
STN
-
Parkinsons Disease gene's?
- PARK 1 - 4 - AD
- PARK 2 - 6 - AR
- LRRK 2 - 12 - AD
- PINK 1 - 1 - AR
Be aware this is not in order of commonality!
-
Pantothenate kinase associated neurodegeneration...how does it present and what is the gene mutation?
- Dystonia, rigidity, spasticity, choreoathetosis, dysarthria and cognitive decline.
- Due to PANK2 mutation on chromosome 20.
-
MR finding in PKAN?
Due to iron accumulation in the Globus pallidus interna causing the 'eye of the tiger sign'.
-
Associated condition with PKAN?
Pigmentary retinopathy
-
What accumulates abnormally in Fahr disease?
Calcium in the basal ganglia
-
What is the most common cause of acquired chorea in adults? and the second?
- Cerebrovascular disease
- HONK
-
Where is the pathology in Huntington's?
- Caudate nucleus
- Picks of the medium spiny neurons
-
Whats the best treatment from Chorea?
Tetrabenazine
-
Whats the best treatment for acute dystonic reactions secondary to medication?
- Trihexyphenidyl
- Or Anticholinergic agents such as benztropine
-
What is the mechanism of action of Botox?
Cleave SNARE proteins preventing acetylcholine exocytosis and release
-
What is the typical presentation of Dopa responsive dystonia?
- Presents in children with gait difficulties which are worse as the day goes on and improve with rest.
- Gait abnorm is secondary to foot or leg dystonia.
-
What is the molecular problem in DRD?
- GTP cyclohydrolase deficiency - AD
- Tyrosine hydroxylase deficiency - AR
- Sepiapterin deficiency
-
What is the underlying pathology in PSP and which gene mutations are associated with it?
- Tauopathy
- Assoc with MAPT gene mutations
-
What is the underlying pathology in MSA? Which mutation is associated with it?
- Alpha-synucleinopathy
- SNCA mutations
-
What do copper studies show in Wilsons?
- Low serum copper
- Low serum caeruloplasmin
- High urinary copper
-
Zinc toxicity can lower copper levels and cause...?
Myeloneuropathy
-
Parkinsonism, gaze palsy, dementia and oculomasticatory myorhythmia are caused by?
- Whipples
- Tropheryma whippelei
-
What are the Tauopathies?
- PSP
- Corticobasal degeneration
- Frontotemporal dementia
-
What are the synucleinopathies?
- Parkinsons
- Lewy body dementia
- MSA
-
Which toxins cause parkinsonism?
- MPTP
- Carbon monoxide - causes necrosis of the globus pallidus
- Methanol - causes necrosis of the putamen
-
What structures make up the direct pathway and what is its function.
- Cortex
- Striatum
- Globus pallidus interna and substantia nigra pars compacta
- Thalamus
- Motor cortex
- Function is to facilitate the thalamocortical pathway and increase activity in the motor cortex.
- Lesions affecting this pathway will cause hypokinesia (e.g. parkinsonism)
-
What structures make up the indirect pathway and what is its function?
- Globus pallidus externa
- Subthalamic nucleus
Function is to decrease activity in the thalamocortical pathway and decrease activity in the motor cortex
Lesions affecting this pathway will cause hyperkinesia (e.g. hemiballismus)
-
What differentiates Chorea-acanthocytosis from Huntington's?
- Autosomal recessive
- Feeding dystonia
- Weight loss
- Frontal lobe dysfunction
- Seizures
- CK is often raised
-
Episodic ataxia T2
- Autosomal dominant - CACNA1A
- Recurrent and disabling attack of vertigo, ataxia and imbalance.
- Provoked by stress, caffeine and alcohol.
- Downbeat nystagmus on examination
- Atrophy of the midline cerebellar structures is seen.
- Acetazolamide seems to help
-
What is Perry Syndrome
- Rapidly progressive parkinsonism accompanied by apathy/depression
- Weight loss
- Central hypoventilation
- Vertical gaze palsy mimicking PSP
- Autosomal Dominant due to Dynactin mutations
-
Paroxysmal Kinesogenic Dyskinesias?
- Triggered by sudden movements, startle and hyperventilation
- PRRT2 mutations
- about half of them have a sensory aura to tell them its coming
- Carbamazepine is incredibly effective
-
DRPLA?
- Basically Huntington’s + Epilepsy
- Its Cag repat, it has anticipation, its AD
- It mainly happens in asian populations
- ATN1 gene affected
-
Edentulous orodyskinesia?
- Older people get it when theyve had their teeth removed.
- No tongue involvement
-
Which Antipsychotic is least likely to cause tardive syndromes?
Clozapine
-
Cerebellar ataxia, dysarthria and bilateral sensorineural hearing loss in a person over 50?
superficial siderosis!!
-
Myoclonus-dystonia?
- Does what it says on the tin
- Myoclonus is responsive to alcohol
- Due to an Episilon sarcoglycan mutation (DYT11)
-
What drug do you use for Tardive dyskinesia?
Tetrabenazine
-
Paroxysmal Non-kinesogenic Dyskinesias
- Triggered by alcohol, caffeine fatigue and stress.
- NKD is Autosomal dominant in 80% of cases.
- Duration of episodes tends to be longer than PKD
- MR-1 gene mutation
-
Which conditions co-exist with Tourette's?
ADHD and OCD
-
Which drug for orthostatic tremor?
Clonazepam
-
What is the gene for Neuroacanthocytosis and whats the heredity?
-
What is the problem in Wilsons?
- Inability to excrete copper into the Bile ducts.
- This means it collects in the brain and liver.
- Urinary copper is high and serum caeruloplasmin in low.
-
What is the haematological hallmark of copper deficiency?
Anaemia
-
Benign Hereditary chorea
Caused by a mutation in the Thyroid transcription factor gene (NKX21)
Early onset, usually some ataxia and stable over time.
-
How could you treat Sydenham's chorea?
Dopamine antagonists
-
What is Chorea gravidarum associated with?
- Previous rheumatic fever
- Lupus
- Antiphospholipid syndrome
-
Lesch-Nyhan syndrome
- X-linked recessive
- Hypoxanthine-guanine phosphoribosyltransferase mutation
- HGPRT - abnormal purine metabolism
- High Uric acid levels
- Kidney stones
- Chorea, athetosis, rigidity
- Self mutilation
-
Episodic Ataxia Type 1
- Ataxia + facial twitching
- Occur many times a day and last for seconds to minutes
- Triggered by startle, movement or exercise
- KCNA1 mutation
- Responds to anticonvulsants
-
Episodic Ataxia Type 2
- Ataxia + Brainstem symptoms (nystagmus, dysarthria)
- NO facial twitching
- Episodes last minutes to hours
- Occur daily to monthly
- Triggered by stress and alcohol
- CACN1A4 mutation - same gene as hemiplegic migraine
- Responds to Acetazolomide
-
Episodic ataxia type 3
- 'Meniere's type'
- Ataxia + Tinnitus and vertigo
- In between attacks myokymia occurs
- Responds to acetazolomide
-
Episodic ataxia type 4
- 'BPPV type'
- Ataxia + ocular movement abnormalities
- Triggered by sudden head movements
-
Fredreich's Ataxia
- Autosomal recessive hereditary ataxia
- Cerebellar dysfunction, UMN findings and neuropathy
- High arched feet and spinal deformities are common
- As are conduction abnorms and HOCM
GAA trinucleotide repeat in frataxin gene
-
Spinocerebellar Ataxias
- Autosomal dominant cerebellar ataxias that are clinically and genetically heterogenous
- Typically present in the 3rd-5th decade of life
- Progressive truncal and limb ataxia with assoc spasticity and UMN signs
-
Which mutations account for the majority of the NBIA?
- PKAN - PANK2 gene -
- PLAN - PLA2G6 gene - Adult form of dystonia-parkinsonism
- MPAN - Mitochondrial protein associated
- BPAN - Beta-propeller protein associated
- Acaeruloplasminaemia - Like Haemachromatosis as caeruloplasmin is needed to transport copper out of cells. So its stuck there
- FAHN - Fatty acid hydroxylase associated
- Kufor-Rakeb
- Neuroferrtinopathy - Only autosomal dominant one - huntingtons like
- Woodhouse-Sakati syndrome
- CoPAN - COASY gene
-
Anti-IGLON 5 disease?
- Dementia
- Vertical gaze plasy
- OSA
- Chorea
- Finalistic behaviours (parasomnia where theyr act out their daily tasks)
-
Whats the most common gene mutation leading to AD young onset PD?
LRRK2
-
What happens to an essential head tremor when you lie down?
Goes away
-
What is hemiparkinsonism-hemiatrophy syndrome?
- What it says on the tin.
- Most patients have a history of perinatal insult
- Responds well to Ldopa
-
Modified Hoehn and Yahr scale rough and ready measure?
- 1.0 if you have unilateral symptoms
- 2.0 if you have bilateral
- 3.0 if you have bilateral symptoms + postural instability
- 5.0 Wheelchair bound/bedridden
-
Long face, large ears and Large testes?
Fragile X
-
Parkinsonism, chorea, dystonia, spasticity and ataxia in a portugese man from the azores islands
Machado-joseph (SCA 3) (ATXN3)
-
Slow saccades, areflexia and ataxia in a cuban
SCA 2 (ATXN2)
-
Pure cerebellar SCA?
SCA 5 (SPTBN2)
-
SCA with ataxia and seizures?
SCA10 (ATXN10)
-
SCA with macular degeneration and UMN signs?
SCA 7 (ATXN7)
-
The trinucleotide repeat disorders mnemonic
Henry found Mary drinking shandy from shells.
- Huntingtons
- Fragile X
- Myotonic dystrophy
- DRPLA
- SBMA
- Freidreichs
- SCA 1, 2, 3, 6, 7, 12, 17
-
What do the SCAs that are trinucleotide repeats have in common?
All CAG
-
MRI changes in Wilsons?
- T2 hyperintensity of the putamen
- Face of the panda
-
What are the ARCAs?
- Autosomal recessive cerebellar ataxias:
- Freidrich's is the most common -FXN gene
- Ataxia telangectasia - ATN gene, increased infections, rasied AFP, telangectasias
- AOA1 - Ataxia, oculomotor apraxia, hypoalbuminaemia APTX gene
- AOA2 - ataxia, oculomotor apraxia, raised aFP, chorea and dystonia SETX gene
-
Patient presents with HD phenocopy but has normal trinucleotide repeats. What are your clues for underlying diagnoses?
- African heritage - Huntington's Like Disease 2
- Asian heritage - DRPLA
- Greek heritage - SCA-8
-
Early onset dystonia and chorea. Triggered by stress, intercurrent infections. Delayed milestones and axial hypotonia. Later in life facial myokymia and dyskinesia.
- ADCY-5 mutation
- Converts ATP to cAMP in the striatum only.
-
Ataxia with isolated vitamin E deficiency
- Similar to Friedreich's ataxia:
- AR
- Ataxia
- Dysarthria
- Decreased proprioception
-
Which drug can be used to treat dyskinesias and what are the side effects?
- Amantadine
- Confusion, hallucinations, myoclonus, livedo reticularis
-
What are the side-effects of entacapone?
- Diarrhoea and discoloured urine
- Its mate tolcapone causes fulminant liver failure
-
Where can you pop the DBS leads for Dystonia?
GPI
-
Rapid onset Parkinsonism
- ATP1A3
- Caused by stressful event
-
Hereditary Hyperekplexia?
Glycine mutation
-
Metabolic causes of recurrent ataxia?
- GLUT1
- Hartnup's
- Maple syrup urine disease
- OTC
- Pyruvate dehydrogenase deficiency
- Arginosuccinate deficiency
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