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Printable Handouts
Navigable Slide Index
- Introduction
- Outline
- Background (1)
- Background (2)
- Etiology (1)
- Genetic counseling
- Etiology (2)
- Etiology (3)
- Polyglutamine expansion diseases (1)
- Polyglutamine expansion diseases (2)
- Molecular Pathogenesis
- Histopathology
- Clinical presentation (1)
- Neurological findings
- Non-neurological findings
- Clinical presentation (2)
- Differential diagnosis
- Experimental therapies
- Androgen deprivation (1)
- Androgen deprivation (2)
- Androgen deprivation (3)
- Therapy approaches
- Muscle-targeted therapies (1)
- Muscle-targeted therapies (2)
- Concluding remarks
- Acknowledgements
Topics Covered
- Etiology and molecular pathogenesis
- Histopathological and clinical features
- Differential diagnosis
- Experimental therapies
Links
Series:
Categories:
Therapeutic Areas:
Talk Citation
Rinaldi, C. (2016, June 30). Mechanisms of pathogenesis and molecular targets in spinal and bulbar muscular atrophy [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved October 5, 2024, from https://doi.org/10.69645/BHKF3048.Export Citation (RIS)
Publication History
Financial Disclosures
- Dr. Carlo Rinaldi has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
Other Talks in the Series: ALS and Other Motor Neuron Disorders
Transcript
Please wait while the transcript is being prepared...
0:00
Hello and welcome
to all listeners,
my name is Carlo Rinaldi,
I'm a Neurologist
at University of Oxford.
In the next 30 minutes or so,
I'll be discussing the mechanism
of pathogenesis
and molecular targets
in a disease
called spinal and bulbar
muscular atrophy or SPMA.
0:18
I will first give some
background on when and how
the disease was discovered,
followed by the etiology
and an update regarding
the most recent
understanding
of the disease pathogenesis.
I will then talk about the main
histological
and clinical features
which helps clinicians
with the diagnosis
and which are the diseases
that most frequently SPMA
is diagnosed with.
I will then discuss
some of the most promising
therapeutic strategies
currently being tested
in preclinical studies
in animal models
and in clinical trials.
0:51
SPMA goes under in many names,
Kennedy's disease,
X-linked spinal muscular
atrophy type 1,
X-linked spinal
and bulbar muscular atrophy,
spinal bulbar muscular atrophy,
and spinal
and bulbar muscular atrophy
just to name some.
Kennedy's disease comes
from the name of the neurologist
that described the disease
in the late '60s.
1:14
Although Kennedy's disease
was the name of William Kennedy,
the first reports
of this disease
were likely published by Kurland
who described
in a typical form of
lower motor neurons
in a Japanese family in 1957.
Following the reports
by Kurland,
additional descriptions
of patients
with X-linked spino-bulbar
muscular atrophy
in the absence of
corticospinal tract involvement
appeared in the literature.
In 1968, Dr. Kennedy
reported his experience
with two large families
at the Mayo Clinic
in Rochester, Minnesota.
And the designation
of Kennedy disease
was first introduced
into French literature in 1979.
Kennedy's initial cardinal
attributes of the syndrome
were most limited to a bulbar
and spinal muscular atrophy
of late onset
with prominent fasiculations,
predominantly in the lower phase
with the typical tract
of an X-linked trait.
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