Raven Neurology Review -2- Movement disorders

  1. What does a DaT scan measure?
    Striatal dopamine
  2. Where can you pop the lead to cure essential tremor with DBS?
    The Ventral intermediate nucleus of the thalamus (The VIM).
  3. 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.
  4. Whats is spasmus nutans?
    • Titubation
    • Nystagmus
    • Torticollis

    • Onset at 4-12 months
    • resolves in 1-2 years without treatment.
  5. Manganese?
    • Accumulates in the basal ganglia if you're a welder, have biliary atresia or prolonged PEG fed.
    • Causes Rx resistant parkinsonism and dystonia.
  6. 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
  7. What is Lubag's disease
    X linked parkinsonism dystonia in people of filipino origin fro the island of Panay
  8. Viral illness prodrome then Parkinson's disease?
    • Von Economo's disease.
    • Encephalitis lethargica
  9. Most common site for DBS in PD?
  10. 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!
  11. 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.
  12. MR finding in PKAN?
    Due to iron accumulation in the Globus pallidus interna causing the 'eye of the tiger sign'.
  13. Associated condition with PKAN?
    Pigmentary retinopathy
  14. What accumulates abnormally in Fahr disease?
    Calcium in the basal ganglia
  15. What is the most common cause of acquired chorea in adults? and the second?
    • Cerebrovascular disease
    • HONK
  16. Where is the pathology in Huntington's?
    • Caudate nucleus
    • Picks of the medium spiny neurons
  17. Whats the best treatment from Chorea?
  18. Whats the best treatment for acute dystonic reactions secondary to medication?
    • Trihexyphenidyl
    • Or Anticholinergic agents such as benztropine
  19. What is the mechanism of action of Botox?
    Cleave SNARE proteins preventing acetylcholine exocytosis and release
  20. 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.
  21. What is the molecular problem in DRD?
    • GTP cyclohydrolase deficiency - AD
    • Tyrosine hydroxylase deficiency - AR
    • Sepiapterin deficiency
  22. What is the underlying pathology in PSP and which gene mutations are associated with it?
    • Tauopathy
    • Assoc with MAPT gene mutations
  23. What is the underlying pathology in MSA? Which mutation is associated with it?
    • Alpha-synucleinopathy
    • SNCA mutations
  24. What do copper studies show in Wilsons?
    • Low serum copper
    • Low serum caeruloplasmin
    • High urinary copper
  25. Zinc toxicity can lower copper levels and cause...?
  26. Parkinsonism, gaze palsy, dementia and oculomasticatory myorhythmia are caused by?
    • Whipples
    • Tropheryma whippelei
  27. What are the Tauopathies?
    • PSP
    • Corticobasal degeneration
    • Frontotemporal dementia
  28. What are the synucleinopathies?
    • Parkinsons
    • Lewy body dementia
    • MSA
  29. Which toxins cause parkinsonism?
    • MPTP
    • Carbon monoxide - causes necrosis of the globus pallidus
    • Methanol - causes necrosis of the putamen
  30. 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)
  31. 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)
  32. What differentiates Chorea-acanthocytosis from Huntington's?
    • Autosomal recessive
    • Feeding dystonia 
    • Weight loss
    • Frontal lobe dysfunction
    • Seizures
    • CK is often raised
  33. 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
  34. 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
  35. 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
  36. DRPLA?
    • Basically Huntington’s + Epilepsy
    • Its Cag repat, it has anticipation, its AD
    • It mainly happens in asian populations
    • ATN1 gene affected
  37. Edentulous orodyskinesia?
    • Older people get it when theyve had their teeth removed.
    • No tongue involvement
  38. Which Antipsychotic is least likely to cause tardive syndromes?
  39. Cerebellar ataxia, dysarthria and bilateral sensorineural hearing loss in a person over 50?
    superficial siderosis!!
  40. Myoclonus-dystonia?
    • Does what it says on the tin
    • Myoclonus is responsive to alcohol
    • Due to an Episilon sarcoglycan mutation (DYT11)
  41. What drug do you use for Tardive dyskinesia?
  42. 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
  43. Which conditions co-exist with Tourette's?
    ADHD and OCD
  44. Which drug for orthostatic tremor?
  45. What is the gene for Neuroacanthocytosis and whats the heredity?
    • AR
    • VPS13A (CHAC) gene
  46. 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.
  47. What is the haematological hallmark of copper deficiency?
  48. Benign Hereditary chorea
    Caused by a mutation in the Thyroid transcription factor gene (NKX21)

    Early onset, usually some ataxia and stable over time.
  49. How could you treat Sydenham's chorea?
    Dopamine antagonists
  50. What is Chorea gravidarum associated with?
    • Previous rheumatic fever
    • Lupus
    • Antiphospholipid syndrome
  51. 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
  52. 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
  53. 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
  54. Episodic ataxia type 3
    • 'Meniere's type'
    • Ataxia + Tinnitus and vertigo
    • In between attacks myokymia occurs
    • Responds to acetazolomide
  55. Episodic ataxia type 4
    • 'BPPV type'
    • Ataxia + ocular movement abnormalities
    • Triggered by sudden head movements
  56. 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
  57. 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
  58. 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
  59. Anti-IGLON 5 disease?
    • Dementia
    • Vertical gaze plasy
    • OSA
    • Chorea
    • Finalistic behaviours (parasomnia where theyr act out their daily tasks)
  60. Whats the most common gene mutation leading to AD young onset PD?
  61. What happens to an essential head tremor when you lie down?
    Goes away
  62. What is hemiparkinsonism-hemiatrophy syndrome?
    • What it says on the tin.
    • Most patients have a history of perinatal insult
    • Responds well to Ldopa
  63. 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
  64. Long face, large ears and Large testes?
    Fragile X
  65. Parkinsonism, chorea, dystonia, spasticity and ataxia in a portugese man from the azores islands
    Machado-joseph (SCA 3) (ATXN3)
  66. Slow saccades, areflexia and ataxia in a cuban
    SCA 2 (ATXN2)
  67. Pure cerebellar SCA?
    SCA 5 (SPTBN2)
  68. SCA with ataxia and seizures?
    SCA10 (ATXN10)
  69. SCA with macular degeneration and UMN signs?
    SCA 7 (ATXN7)
  70. 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
  71. What do the SCAs that are trinucleotide repeats have in common?
    All CAG
  72. MRI changes in Wilsons?
    • T2 hyperintensity of the putamen
    • Face of the panda
  73. 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
  74. 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
  75. 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.
  76. Ataxia with isolated vitamin E deficiency
    • Similar to Friedreich's ataxia:
    • AR
    • Ataxia
    • Dysarthria
    • Decreased proprioception
  77. Which drug can be used to treat dyskinesias and what are the side effects?
    • Amantadine
    • Confusion, hallucinations, myoclonus, livedo reticularis
  78. What are the side-effects of entacapone?
    • Diarrhoea and discoloured urine
    • Its mate tolcapone causes fulminant liver failure
  79. Where can you pop the DBS leads for Dystonia?
  80. Rapid onset Parkinsonism
    • ATP1A3
    • Caused by stressful event
  81. Hereditary Hyperekplexia?
    Glycine mutation
  82. Metabolic causes of recurrent ataxia?
    • GLUT1
    • Hartnup's
    • Maple syrup urine disease
    • OTC
    • Pyruvate dehydrogenase deficiency
    • Arginosuccinate deficiency
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Raven Neurology Review -2- Movement disorders
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