overview of movement disorders: part 1 - hypokinesias

OVERVIEW OF MOVEMENT DISORDERS:

Part 1 - HypokinesiasStanley Fahn, MD

Aspen CourseJuly 2020

Stanley Fahn has received financial income from:

Stanley Fahn has received financial income from:

• Consultant: Retrophin Inc; resTORbio, Inc.; StoparkinsonHealthcare Systems

• Grants/Research Support: Smart Family Foundation• Lectures: Movement Disorder Society,

• Honoraria: Springer Publishers for serving as co-editor of Current Neurology and Neurosurgery Report

• Author Royalties: Elsevier Publishers for co-authorship of book Principles and Practice of Movement Disorders

• Salary: Columbia University

• Consultant: Retrophin Inc; resTORbio, Inc.; StoparkinsonHealthcare Systems

• Grants/Research Support: Smart Family Foundation• Lectures: Movement Disorder Society,

• Honoraria: Springer Publishers for serving as co-editor of Current Neurology and Neurosurgery Report

• Author Royalties: Elsevier Publishers for co-authorship of book Principles and Practice of Movement Disorders

• Salary: Columbia University

WELCOME TO THE 2020 ASPEN COURSE

WELCOME TO THE 2020 ASPEN COURSE

This is our 30th consecutive year. It began in 1991 with three faculty members giving all the lectures:

Stan FahnDavid MarsdenJoe Jankovic

This is our 30th consecutive year. It began in 1991 with three faculty members giving all the lectures:

Stan FahnDavid MarsdenJoe Jankovic

The First 9 Years

Year 10 Year 11 Year 12 Yr 13 Yr 14<-----The first 9 years ---

OUTLINEOUTLINE• Part 1a - General Overview

– Definitions, Listing of categories, How to examine a pt, Comparative prevalence rates, Advances in genetics

• Part 1b – Hypokinetic disorders – Phenomenology – videotapes

• Part 2 – Hyperkinetic disorders (separate lecture)– Tables to help identify the hyperkinesias– Phenomenology - videotapes

• Part 1a - General Overview – Definitions, Listing of categories, How to

examine a pt, Comparative prevalence rates, Advances in genetics



For this lecture, extra slides are included in your handout. These extra slides will not be shown during the lecture in order to save time. They are

informative and are located in the appropriate sections

related to each specific slide.

For this lecture, extra slides are included in your handout. These extra slides will not be shown during the lecture in order to save time. They are

informative and are located in the appropriate sections

related to each specific slide.

CATEGORIES OF MOVEMENTCATEGORIES OF MOVEMENT

• FOUR CLASSES OF MOVEMENTS– Automatic– Voluntary– Semivoluntary (also called unvoluntary)– Involuntary

• FOUR CLASSES OF MOVEMENTS– Automatic– Voluntary– Semivoluntary (also called unvoluntary)– Involuntary

CATEGORIES OF MOVEMENTCATEGORIES OF MOVEMENT

AUTOMATIC MOVEMENTS• Learned motor behaviors that are performed

without conscious effort, e.g., walking an accustomed route, and tapping of the fingers when thinking about something else.

AUTOMATIC MOVEMENTS• Learned motor behaviors that are performed

without conscious effort, e.g., walking an accustomed route, and tapping of the fingers when thinking about something else.

CATEGORIES OF MOVEMENTCATEGORIES OF MOVEMENTVOLUNTARY MOVEMENTS• Intentional (planned or self-initiated) or externally

triggered (in response to some external stimulus, e.g. turning the head toward a loud noise or withdrawing a hand from a hot plate). Intentionalvoluntary movements are preceded by the Bereitschaftspotential (or readiness potential), a slow negative potential recorded over the supplementary motor area and the contralateral premotor and motor cortex appearing 1 to 1.5 seconds prior to the movement. BSP is not seen with externally triggered voluntary movements.

VOLUNTARY MOVEMENTS• Intentional (planned or self-initiated) or externally

triggered (in response to some external stimulus, e.g. turning the head toward a loud noise or withdrawing a hand from a hot plate). Intentionalvoluntary movements are preceded by the Bereitschaftspotential (or readiness potential), a slow negative potential recorded over the supplementary motor area and the contralateral premotor and motor cortex appearing 1 to 1.5 seconds prior to the movement. BSP is not seen with externally triggered voluntary movements.

CATEGORIES OF MOVEMENTCATEGORIES OF MOVEMENTSEMIVOLUNTARY (UNVOLUNTARY) MOVEMENTS • Movements that are induced by an inner sensory

stimulus (e.g., need to "stretch" a body part or need to scratch an itch) or by an unwanted feeling or compulsion (e.g., compulsive touching or smelling). Many of the movements occurring as tics or as a response to various sensations (e.g., akathisia and the restless legs syndrome) can be considered unvoluntary because the movements are usually the result of an action to nullify an unwanted, unpleasant sensation. Unvoluntary movements usually are suppressible to some extent.

SEMIVOLUNTARY (UNVOLUNTARY) MOVEMENTS • Movements that are induced by an inner sensory

stimulus (e.g., need to "stretch" a body part or need to scratch an itch) or by an unwanted feeling or compulsion (e.g., compulsive touching or smelling). Many of the movements occurring as tics or as a response to various sensations (e.g., akathisia and the restless legs syndrome) can be considered unvoluntary because the movements are usually the result of an action to nullify an unwanted, unpleasant sensation. Unvoluntary movements usually are suppressible to some extent.

CATEGORIES OF MOVEMENTCATEGORIES OF MOVEMENTINVOLUNTARY MOVEMENTS• Unplanned or unwanted movements that are often

non-suppressible (e.g., most tremors and myoclonus), but some can be partially suppressible (e.g., some tremors, chorea, dystonia, and stereotypies).

INVOLUNTARY MOVEMENTS• Unplanned or unwanted movements that are often

non-suppressible (e.g., most tremors and myoclonus), but some can be partially suppressible (e.g., some tremors, chorea, dystonia, and stereotypies).

Neurologic conditions in which there is either 1) a paucity of voluntary movement in the absence of weakness or spasticity (called akinesia, bradykinesia, hypokinesia) or 2) an excess of movement, referred to as abnormal involuntary movements, dyskinesias, and hyperkinesias. Abnormal movements are usually caused by muscle contractions, but they can also be the result of motor inhibitions, as seen in asterixis, motor impersistence, and cataplexy.

Neurologic conditions in which there is either 1) a paucity of voluntary movement in the absence of weakness or spasticity (called akinesia, bradykinesia, hypokinesia) or 2) an excess of movement, referred to as abnormal involuntary movements, dyskinesias, and hyperkinesias. Abnormal movements are usually caused by muscle contractions, but they can also be the result of motor inhibitions, as seen in asterixis, motor impersistence, and cataplexy.

MOVEMENT DISORDERS:MOVEMENT DISORDERS:

I. HYPOKINESIASA. Akinesia/Bradykinesia (parkinsonism)B. ApraxiaC. Blocking (holding) ticsD. Cataplexy and drop attacksE. Catatonia, psychomotor depression, and

obsessional slownessF. Freezing phenomenonG. Hesitant gaitsH. Hypothyroid slownessI. RigidityJ. Stiff-muscles



LIST OF MOVEMENT DISORDERSLIST OF MOVEMENT DISORDERS

LIST OF MOVEMENT DISORDERSLIST OF MOVEMENT DISORDERSII. HYPERKINESIAS

A. Abdominal dyskinesias

B. Akathitic movements

C. Asynergia/ataxia

D. Athetosis

E. Ballism

F. Chorea

G. Dysmetria

H. Dystonia

I. Hemifacial spasm

J. Hyperekplexia

K. Hypnogenic dyskinesias

L. Jumpy stumps

M. Moving toes/fingers

N. Myoclonus

O. Myokymia

P. Myorhythmia

Q. Paroxysmal dyskinesias

R. Restless legs/PLMS

S. Stereotypies

T. Tics

U. Tremor

LIST OF MOVEMENT DISORDERSThe Big Six

LIST OF MOVEMENT DISORDERSThe Big SixII. HYPERKINESIAS

A. Abdominal dyskinesias

B. Akathitic movements

C. Asynergia/ataxia

D. Athetosis

E. Ballism

F. Chorea

G. Dysmetria

H. Dystonia

I. Hemifacial spasm

J. Hyperekplexia

K. Hypnogenic dyskinesias

L. Jumpy stumps

M. Moving toes/fingers

N. Myoclonus

O. Myokymia

P. Myorhythmia

Q. Paroxysmal dyskinesias

R. Restless legs/PLMS

S. Stereotypies

T. Tics

U. Tremor

Notice that Psychogenic (Functional) Movements are not on

those lists.

Notice that Psychogenic (Functional) Movements are not on

those lists.• A PMD is a condition/disorder and is not a

phenomenology. Tables I and II were lists of phenomenologies.

• PMD is an etiology and would be analogous to Wilson disease, Huntington disease, tardive dyskinesia, trauma or vascular. They are not on the list either. All of these can manifest in a variety of phenomenologies, as do PMDs.

• A PMD is a condition/disorder and is not a phenomenology. Tables I and II were lists of phenomenologies.

• PMD is an etiology and would be analogous to Wilson disease, Huntington disease, tardive dyskinesia, trauma or vascular. They are not on the list either. All of these can manifest in a variety of phenomenologies, as do PMDs.

Traditional Approach in General Nx• Where is the lesion? (i.e., Localization)• What is the lesion?• How do you treat it?Movement Disorder Approach• What is the nature of the abnormal

movements? (i.e., Phenomenology)• What is the cause of the movements? Do the

clinical features suggest a syndromic pattern?• Treatments: specific vs. symptomatic

Traditional Approach in General Nx• Where is the lesion? (i.e., Localization)• What is the lesion?• How do you treat it?Movement Disorder Approach• What is the nature of the abnormal

movements? (i.e., Phenomenology)• What is the cause of the movements? Do the

clinical features suggest a syndromic pattern?• Treatments: specific vs. symptomatic

Traditional Approach to a Dxin General Neurology vs. the

MovDisord Approach

Traditional Approach to a Dxin General Neurology vs. the

MovDisord Approach

1. Are abnormal involuntary movements present?e.g. AIMS vs. gestures, mannerisms, muscle tightness to

reduce pain (guarding), abnl posture due to arthritis. Note: psychogenic movements are usually subconscious and thereby involuntary (conversion disorders) vs. factitious and malingering, which are voluntary.

2. What is the nature of the involuntary movements? Try to identify the specific phenomenology.

Evaluate features such as body parts involved; rhythmicity; speed; duration; pattern: repetitive, flowing, continual, paroxysmal, diurnal; inducible by stimuli, action, exercise; complex vs. simple; suppressible: volitional, sensory tricks, by distraction; accompanied by sensations such as an urge, itch, or restlessness; present during sleep.

3. What is the cause of the movements? Need to recognize syndromic patterns.

4. Treatments: specific vs. symptomatic

1. Are abnormal involuntary movements present?e.g. AIMS vs. gestures, mannerisms, muscle tightness to

reduce pain (guarding), abnl posture due to arthritis. Note: psychogenic movements are usually subconscious and thereby involuntary (conversion disorders) vs. factitious and malingering, which are voluntary.

2. What is the nature of the involuntary movements? Try to identify the specific phenomenology.

Evaluate features such as body parts involved; rhythmicity; speed; duration; pattern: repetitive, flowing, continual, paroxysmal, diurnal; inducible by stimuli, action, exercise; complex vs. simple; suppressible: volitional, sensory tricks, by distraction; accompanied by sensations such as an urge, itch, or restlessness; present during sleep.

3. What is the cause of the movements? Need to recognize syndromic patterns.

4. Treatments: specific vs. symptomatic

EVALUATION OF A MOVEMENT DISORDEREVALUATION OF A MOVEMENT DISORDER

HOW TO EXAMINE A PATIENT WITH A MOVEMENT DISORDERHOW TO EXAMINE A PATIENT

WITH A MOVEMENT DISORDER

• 1. Observe the patient at rest: sitting, lying• 2. Observe the patient when s/he’s talking• 3. Observe the patient with specific movements,

including arising and walking, writing, and other activities.

• 4. Observe all body parts, including eyes.• 5. Carry out a thorough neurological exam, including

cognition, motor, reflexes, sensory and apraxia exams.

• 1. Observe the patient at rest: sitting, lying• 2. Observe the patient when s/he’s talking• 3. Observe the patient with specific movements,

including arising and walking, writing, and other activities.

• 4. Observe all body parts, including eyes.• 5. Carry out a thorough neurological exam, including

cognition, motor, reflexes, sensory and apraxia exams.

HOW TO EXAMINE A PATIENT WITH A MOVEMENT DISORDERHOW TO EXAMINE A PATIENT

WITH A MOVEMENT DISORDER• Eight slides in your slide set.

• Reference:• Robakis D, Fahn S, Kestenbaum M. Essential Tips

for Videotaping a Movement Disorders Patient Encounter. Mov Disord Clin Pract. 2015 Jun 30;2(4):365-368. doi: 10.1002/mdc3.12204. eCollection 2015 Dec. PubMed PMID: 30838238; PubMed Central PMCID: PMC6353473

• Eight slides in your slide set.

• Reference:• Robakis D, Fahn S, Kestenbaum M. Essential Tips

for Videotaping a Movement Disorders Patient Encounter. Mov Disord Clin Pract. 2015 Jun 30;2(4):365-368. doi: 10.1002/mdc3.12204. eCollection 2015 Dec. PubMed PMID: 30838238; PubMed Central PMCID: PMC6353473

HOW TO EXAMINE A PATIENT WITH A MOVEMENT DISORDER - 1


• Start: Hx, routine Nx exam, MovDisord exam• Patient already seated: proceed from top of body to

legs to arising and then gait and balance. • (If collecting the pt from the waiting room, observe

arising from the chair and walking to the exam room.) • Try to videotape the exam with consent form allowing

publication.

• Start: Hx, routine Nx exam, MovDisord exam• Patient already seated: proceed from top of body to

legs to arising and then gait and balance. • (If collecting the pt from the waiting room, observe

arising from the chair and walking to the exam room.) • Try to videotape the exam with consent form allowing

publication.



• Observe pt sitting quietly, not speaking but can be listening.

• Observe pt talking, looking for any tremor or abnlmvts, incl “overflow” mvts, as well as listening to speech; also observe for gestures (incl symmetry or asymmetry in gestures).

• Observe pt sitting quietly, not speaking but can be listening.

• Observe pt talking, looking for any tremor or abnlmvts, incl “overflow” mvts, as well as listening to speech; also observe for gestures (incl symmetry or asymmetry in gestures).



• CRANIAL:• Eyes: SWJ, EOM, nystagmus, frontal release signs

(glabellar, snout, P/M, grasp reflexes). Look for apraxia of eyelid opening, (applause sign).

• Face: expression, blinking, nasolabial folds (deep in facial dystonia, flat in akinesia), procerus sign, symmetry, speed and amplitude of smile, protrude and move tongue (size and mobility, speed and amplitude of movement); check palate

• CRANIAL:• Eyes: SWJ, EOM, nystagmus, frontal release signs

(glabellar, snout, P/M, grasp reflexes). Look for apraxia of eyelid opening, (applause sign).

• Face: expression, blinking, nasolabial folds (deep in facial dystonia, flat in akinesia), procerus sign, symmetry, speed and amplitude of smile, protrude and move tongue (size and mobility, speed and amplitude of movement); check palate



• NECK:• Neck: head straight ahead and then all directions.

– Twisted, tilted = dystonia or pseudystonia. – Tremor: ET vs cerebellar vs dystonia (PD = rare)

• Tremor: Vertical is almost always cerebellar or ET. Horizontal – could also be dystonic. Irregular –usually dystonic.

• Dystonic tremor of neck or limbs often has a null point. Resting head against back of chair or against wall often ameliorates dystonia.

• NECK:• Neck: head straight ahead and then all directions.

– Twisted, tilted = dystonia or pseudystonia. – Tremor: ET vs cerebellar vs dystonia (PD = rare)

• Tremor: Vertical is almost always cerebellar or ET. Horizontal – could also be dystonic. Irregular –usually dystonic.

• Dystonic tremor of neck or limbs often has a null point. Resting head against back of chair or against wall often ameliorates dystonia.



• SHOULDERS:• Asymmetry of shoulder heights could indicate

scoliosis, dystonic elevation, or weakness. • Anteriorally deviated: scoliosis or dystonia• Test shoulder shrug – an excellent test for comparing

bradykinesia on the two sides of the body.

• SHOULDERS:• Asymmetry of shoulder heights could indicate

scoliosis, dystonic elevation, or weakness. • Anteriorally deviated: scoliosis or dystonia• Test shoulder shrug – an excellent test for comparing

bradykinesia on the two sides of the body.



• ARMS: • Tremor – limbs at rest, with posture, with action (F-N). Test

for reflex myoclonus by flicking a finger on each hand.

• Writing: short sentence, long words: “There are earthquakes in California” X3. Spirals. Tests bradykinesia, ataxia, dystonia, tremor

• F-N test, Finger chasing and other voluntary movement: test for limb ataxia, action tremor, action myoclonus and action dystonia.

• Arm postures: besides tremor, look for dystonia and for reflex myoclonus by flicking fingers on outstretched arms.

• ARMS: • Tremor – limbs at rest, with posture, with action (F-N). Test

for reflex myoclonus by flicking a finger on each hand.

• Writing: short sentence, long words: “There are earthquakes in California” X3. Spirals. Tests bradykinesia, ataxia, dystonia, tremor

• F-N test, Finger chasing and other voluntary movement: test for limb ataxia, action tremor, action myoclonus and action dystonia.

• Arm postures: besides tremor, look for dystonia and for reflex myoclonus by flicking fingers on outstretched arms.



• ARMS and LEGS, HANDS and FEET, FINGERS : • Muscle tone (test neck also): Rigidity, spasticity,

hypotonia - with and w/o reinforcement maneuver (Fromenttest)

• Strength: give-way weakness?• Bulk and fasciculations• Speed and amplitude of rapid successive movements:

mandatory test for bradykinesia and hypokinesia; also look for mirror movements, distraction

• Apraxia testing, cortical sensory exam

• ARMS and LEGS, HANDS and FEET, FINGERS : • Muscle tone (test neck also): Rigidity, spasticity,

hypotonia - with and w/o reinforcement maneuver (Fromenttest)

• Strength: give-way weakness?• Bulk and fasciculations• Speed and amplitude of rapid successive movements:

mandatory test for bradykinesia and hypokinesia; also look for mirror movements, distraction

• Apraxia testing, cortical sensory exam



• H-K-S test and other cerebellar tests• Arising from chair with arms folded• Gait, station, turning, walking backwards,

(running rarely), walk on heels & toes• Romberg test, tandem gait • Posture • Pull test

• H-K-S test and other cerebellar tests• Arising from chair with arms folded• Gait, station, turning, walking backwards,

(running rarely), walk on heels & toes• Romberg test, tandem gait • Posture • Pull test

PREVALENCE OF MOVEMENT DISORDERS

PREVALENCE OF MOVEMENT DISORDERS

Restless legs 9800*Essential tremor 415Parkinson disease 187*Tourette syndrome 29-2990Primary torsion dystonia 33Blepharospasm 13.3Hemifacial spasm 7.4-14.5Hereditary ataxia 6 Multiple system atrophy 4.4Huntington disease 2-12Wilson disease 3 PSP 2 - 6.4

Restless legs 9800*Essential tremor 415Parkinson disease 187*Tourette syndrome 29-2990Primary torsion dystonia 33Blepharospasm 13.3Hemifacial spasm 7.4-14.5Hereditary ataxia 6 Multiple system atrophy 4.4Huntington disease 2-12Wilson disease 3 PSP 2 - 6.4

Rates are given per 100,000 population. *For restless legs, the rate cited is in a population >65 years. For PD, the rate is 347 per 100,000 for ages over 40 years [Schoenberg et al., 1985]

and 572/100,000 for ages over 45 years [Marras et al., 2018].

Rates are given per 100,000 population. *For restless legs, the rate cited is in a population >65 years. For PD, the rate is 347 per 100,000 for ages over 40 years [Schoenberg et al., 1985]

and 572/100,000 for ages over 45 years [Marras et al., 2018].

The overall prevalence of PD among those aged ≥45 years to be 572 per 100,000 (95% confidence interval 537-614) that there were 680,000 individuals in the US aged ≥45 years with PD in 2010 and that number will rise to approximately 930,000 in 2020 and 1,238,000 in 2030 based on the US Census Bureau population projections.

NPJ Parkinsons Dis. 2018 Jul 10;4:21. doi: 10.1038/s41531-018-0058-0. eCollection 2018. PubMed PMID: 30003140; PubMed Central PMCID: PMC6039505

NYT cover re. geneticsNYT cover re. genetics

Genetic Discoveries in the Year Prior to the 2020 Course – 1


Disease Chromosome Gene Protein FunctIon

Parkinson disease (two YOPD cases)(AD)

1p36.11 LIN28A RNA-binding protein Lin28

Involved in neuronal stem

cell development and neuronal differentiation

Parkinsonism with brain calcifications(AR)

9p13.3 MYORGMyogenesis-

regulatedglycosidase

Atrocyticendoplasmic reticulm

Basal gangliacalcifications with myoclonus and epileptsy (AD)

8p11.21 SLC20A2 Phosphate transporter

Na-dependent phosphate transporter




Essential Tremor (ETM6) (5.6% of Chinese ET families) (AD)

1q21.2

CCG expansio

n in NOTCH2

NLC

NOTCH2 N-terminal-Like

C protein

Promotes cortical

neurogenesis

Childhood onset dystonia with striatonigraldegeneration (AR)

16q22.1-q22.2 VAC14 VAC14

Regulates the level of

phosphatidyl-inositol-3,5-

biphosphate in endosomal membranes

Dystonia-Ataxia, myoclonus (AR) 1q42.13 COQ8A Coenzyme

Q8Ainvolved in

coenzyme Q10 synthesis.




BenignAdult Familial Myoclonic Epilepsy 4 (AR)

3q27.1

TTTCA repeats

in YEATS2

YEATS domain-

containingprotein 2

histone acetylation

Myoclonus and dystonia in leukodystrophy(AR)

6p21.1 POLR1C

A subunit of RNA

polymerase I and III

synthesis of RNA

Developmental tremor, ataxia, dystonia, myoclonusl(Gabriele-de Vries synd) (AD)

14q32.2 YY1 Transcription factor YY1

Activates and suppresses

DNA transcription




familial cortical myoclonic tremor with epilepsy type 1(AR)

8q24.11-q24.12

(TTTGA) repeats

in SAMD12

Sterile Alpha Motif Domain Containing 12

Epressed in frontal cortex

and cerebellum

Hyperkinesias in congenital developmental delay (AR)

3p24.2 NGLY1 N-glycanase1

Deglycosylationof misfolded N-

linked glycoproteins

Infantile choreoathetosiswith intellectual diability (AR)

1q23.1 MRLB24

Mitochondrial ribosomal

protein large 24

A component of mitochondrial

ribosomes

Mov Disord . 2019 Nov;34(11):1602‐1613.

67 Genes Identified. divided into 3 subgroups: - prominent myoclonus syndromes, 35 genes; - prominent myoclonus syndromes combined with another

prominent movement disorder, 9 genes; - disorders that present usually with other phenotypes but can

manifest as a prominent myoclonus syndrome, 23 genes.• Almost all had an additional movement disorder: ataxia (n =

41), ataxia and dystonia (n = 6), and dystonia (n = 5).• Cognitive decline and epilepsy are present in most. • Cortical myoclonus in 79%, noncortical in 18%, both in 2%. • Cortical myoclonus is commonly seen in association with

ataxia, and noncortical myoclonus is often seen with myoclonus-dystonia.

JAMA Neurol. 2018 Oct 1;75(10):1234-1245.

378 patients tested via gene panels. Pathogenic variants were identified in 83 cases (22.0%). An additional 23 patients with cerebellar ataxia were tested with both gene panels and WES; each had a similar diagnostic yield of 26%, Gene panel testing was 6-7X cheaper than WES. WES is incapable of detecting triplet repeat expansions, like HD, SCA-1, 2, 3, 6 and 7; fragileX-associated tremor ataxia syndrome; or dentatorubral-pallidoluysian atrophy.

JAMA Neurol. 2018 Oct 1;75(10):1234-1245.

Message from my genetics counselor - 1


• Invitae is an incredible lab. They cap the out of pocket price to patient at $250 no matter how many genes are on the panel. It doesn’t make any sense any more to do individual gene testing unless you are confident about the gene or know the specific mutation in the family. Of course Panel Testing has its drawbacks- Variants of Unknown Significance. You can eliminate genes from panel if you choose to. Invitae does not do any expansion genes or GBA because of next generation sequencing techniques.

• Invitae is an incredible lab. They cap the out of pocket price to patient at $250 no matter how many genes are on the panel. It doesn’t make any sense any more to do individual gene testing unless you are confident about the gene or know the specific mutation in the family. Of course Panel Testing has its drawbacks- Variants of Unknown Significance. You can eliminate genes from panel if you choose to. Invitae does not do any expansion genes or GBA because of next generation sequencing techniques.



• For Invitae, you open an account online, order kits online, order testing on line. But be sure to also download neurology requsition Form and Patient consent form and include them in shipment.

• For Invitae, you open an account online, order kits online, order testing on line. But be sure to also download neurology requsition Form and Patient consent form and include them in shipment.

https://www.invitae.com

NOMEMCLATURE FOR GENETIC DISORDERS

NOMEMCLATURE FOR GENETIC DISORDERS

• Standard method (Human Genome Organization) (HUGO)

• Uses labels and numbers in chronological order – e.g, Park1...Park23, DYT1…DYT29, SCA1…SCA48,

SCAR1…SCAR28, SPAX1…SPAX9, AOA1...AOA4, HDL1…HDL4

– No CHOR,TREM, MYOC, PxMD• MDS Task Force (Marras et al. Mov Disord 2016 Apr;31(4):436-57.)

Only proven genes, phenotypes (or image) and gene ID– e.g, PARK-LRRK2, PARK-ATP13A2, DYT-TOR1A,

DYT/PARK-GCH1, NBIA/DYT/PARK-PLA2G6, SCA-ATXN2, SCAR-FGF14, PxMD-PRRT2,

• Standard method (Human Genome Organization) (HUGO)

• Uses labels and numbers in chronological order – e.g, Park1...Park23, DYT1…DYT29, SCA1…SCA48,

SCAR1…SCAR28, SPAX1…SPAX9, AOA1...AOA4, HDL1…HDL4

– No CHOR,TREM, MYOC, PxMD• MDS Task Force (Marras et al. Mov Disord 2016 Apr;31(4):436-57.)

Only proven genes, phenotypes (or image) and gene ID– e.g, PARK-LRRK2, PARK-ATP13A2, DYT-TOR1A,

DYT/PARK-GCH1, NBIA/DYT/PARK-PLA2G6, SCA-ATXN2, SCAR-FGF14, PxMD-PRRT2,

Tremor Other Hyperkinet Mov (N Y). 2019 Aug 28;9.

DYT/PARK/TREM-ATP7B = Wilson disease

NEUROIMMUNOLOGYNEUROIMMUNOLOGY

Another area of research and clinical neuroscience that has blossomed throughout the field of neurology is Neuroimmunology,

including within the subspecialty of movement disorders.

The Aspen Course has introduced a new lecture on neuroimmunology of MovDisord.

Another area of research and clinical neuroscience that has blossomed throughout the field of neurology is Neuroimmunology,

including within the subspecialty of movement disorders.

The Aspen Course has introduced a new lecture on neuroimmunology of MovDisord.

Brain. 2018 Jan 1;141(1):13-36.

To study the phenomenon of disease without books is to sail an uncharted sea,

while to study books without patients is not to go to sea at all.

Sir William Osler (1901)

To study the phenomenon of disease without books is to sail an uncharted sea,

while to study books without patients is not to go to sea at all.

Sir William Osler (1901)

SHOW VIDEOS OF HYPOKINETIC DISORDERS

SHOW VIDEOS OF HYPOKINETIC DISORDERS


obsessional slownessF. Freezing phenomenonG. Hesitant gaits (fear of falling, apraxia of gait,

NPH, psychogenic)H. Hypothyroid slownessI. RigidityJ. Stiff-muscles


obsessional slownessF. Freezing phenomenonG. Hesitant gaits (fear of falling, apraxia of gait,

NPH, psychogenic)H. Hypothyroid slownessI. RigidityJ. Stiff-muscles


Save your questions about the overview of hypokinetic disorders.

To be covered on August Q&A session

THANK YOU

overview of movement disorders: part 1 - hypokinesias

Documents