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Printable Handouts
Navigable Slide Index
- Introduction
- COI and funding disclosures
- Typical and atypical parkinsonism
- Genetics and PD
- PD/parkinsonism genes and risk variants
- New classifications of neurodegenerative disorders
- In everyday clinical practice, when is it useful to offer genotyping for PD patients?
- How to address the referral of the asymptomatic family member of PD patient?
- Why is it important to refer the patient to the genetic clinic?
- Useful websites
- Commercial genetic referral laboratories
- Types of commercial genetic testing
- Variant of uncertain significance
- Summary
- Acknowledgements
Topics Covered
- Parkinson’s Disease (PD)
- Parkinsonism
- Typical and atypical clinical presentation
- Genes associated with Parkinson’s disease
- When to refer to a genetic clinic
- Commercial genetic referral laboratories
- Variants of uncertain significance
Links
Series:
Categories:
Therapeutic Areas:
External Links
- Slide 10: HUGO Gene Nomenclature Committee (HGNC)
- Slide 10: NIH Genetic Testing Registry - GTR
- Slide 10: GeneReviews
- Slide 10: Online Mendelian Inheritance in Man (OMIM)
- Slide 10: Orphanet
- Slide 11: Mayo Clinic Laboratories
- Slide 11: Athena Diagnostics, Inc.
- Slide 11: Medical Genetics Laboratories at Baylor College of Medicine
- Slide 11: Center for Human Genetics
- Slide 11: Fairview Diagnostic Laboratories
- Slide 11: GeneDx
- Slide 11: Invitae Corporation
- Slide 11: Fulgent Genetics
- Slide 11: Prevention Genetics
- Slide 12: Athena diagnostics
- Slide 12: GeneDx
- Slide 12: Prevention genetics
Talk Citation
Wszolek, Z. (2023, May 31). When is it useful to genotype Parkinson's disease patients? [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 24, 2024, from https://doi.org/10.69645/AROZ5348.Export Citation (RIS)
Publication History
Financial Disclosures
- Mayo Clinic and Dr. Wszolek have a financial interest in technologies entitled, “Identification of Mutations in PARK8, a Locus for Familial Parkinson's Disease” and “Identification of a Novel LRRK2 Mutation, 6055G>A (G2019S), Linked to Autosomal Dominant Parkinsonism in Families from Several European Populations”. Those technologies have been licensed to a commercial entity, and to date, Dr. Wszolek has received royalties <$1.500 through Mayo Clinic in accordance with its royalty sharing policies. -General COI: Dr. Wszolek is partially supported by the NIH/NIA and NIH/NINDS (1U19AG063911, FAIN: U19AG063911), Mayo Clinic Center for Regenerative Medicine, the gifts from the Donald G. and Jodi P. Heeringa Family, the Haworth Family Professorship in Neurodegenerative Diseases fund, and The Albertson Parkinson's Research Foundation. He serves as PI or Co-PI on Biohaven Pharmaceuticals, Inc. (BHV4157-206), Neuraly, Inc. (NLY01-PD-1), and Vigil Neuroscience, Inc. (VGL101-01.002, VGL101-01.201, PET tracer development protocol, Csf1r biomarker and repository project, and ultra-high field MRI in the diagnosis and management of CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia) projects/grants. He serves as Co-PI of the Mayo Clinic APDA Center for Advanced Research and as an external advisory board member for the Vigil Neuroscience, Inc., and as a consultant on neurodegenerative medical research for Eli Lilly & Company.
A selection of talks on Genetics & Epigenetics
Transcript
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0:00
I am Dr. Wszolek.
I am consultant and
professor of neurology
at the Mayo Clinic in
Jacksonville, Florida.
My talk today is
an usefulness of
genotyping for patients
suffering from
Parkinson's disease.
0:19
Before we dissect the
subject of my presentation,
I will present the COI and
funding disclosure slide.
Throughout the years my
research was sponsored through
the governmental and
private funding agencies
as well as my institution,
and private donors.
However, in regards
to this talk,
I do not have any
conflict of interest.
0:51
Before we talk about our main
question for today's talk,
a few slides of introduction.
Parkinson's disease is a
relatively common disorder.
In United States,
there are about 1 million
people are suffering
from Parkinson's disease.
Clinically, Parkinson's
disease is characterized by
a certain combination of signs
that include bradykinesia,
slowness of movements,
rest tremor,
rigidity, muscle stiffness,
and postural
instability, falling.
In specialized movement
disorder clinics,
about 70-80% of patients
present with classic
Parkinson's disease.
These patients usually have
a late onset of a disease
65 years or older.
They have usually slow
progression of the illness.
The symptoms initially
is asymmetrical
with a dominant side
predominantly affected first.
If treated, they have a
good response to levodopa.
Now about 20-30% of cases
seen in specialized clinics
have atypical Parkinsonism.
Under this umbrella, there
are two groups of patients.
One of that they have
Parkinsonism due to known cause,
for example, normal
pressure hydrocephalus.
Other diseases like
multiple system atrophy,
which is characterized by
profound autonomic
dysfunction or
progressive supranuclear
palsy that is
characterized by falling
and other symptoms.
Now, these patients
usually tend to
have more aggressive
disease, shorter survival,
and in general, they do
not respond so well to
levodopa or other symptomatic
treatments that we offer.
Some of these
diseases are genetic,
for example, Perry syndrome,
which is a very rare
Parkinsonian disorder
of genetic nature.