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Printable Handouts
Navigable Slide Index
- Introduction
- Content of talk
- Nervous system
- The nerve
- Normal sural nerve
- Normal sural nerve - zoom in
- Ultrastructure of a normal peripheral nerve
- What are inherited neuropathies
- Inherited neuropathies
- Sole/primary genetic cause
- CMT/related disorders (1)
- Charcot-Marie-Tooth disease
- CMT/HMN
- HSN
- CMT and mitochondrial mutations
- REEP1 and atlastin-1 in neuropathies
- Complex neuropathy syndrome
- Approach to diagnosis
- Is it hereditary (1)
- Suggestive clinical picture
- Beware of pes cavus
- Non-responsive demyelinating neuropathies
- Is it hereditary (2)
- CMT/related disorders (2)
- History of CMT (1)
- CMT diagnosis (1)
- Classification (1)
- Classification (2)
- History of CMT (2)
- Diagnosis and treatment
- CMT genes
- HSAN/HSN genes
- HMN genes
- CMT prevalence
- CMT disease in Northern England
- Frequency of CMT mutations
- CMT diagnosis in the UK
- CMT diagnosis in the US
- US/UK comparison
- PMP22
- CMT1A
- PMP22 related neuropathies
- GJB1
- CMT X
- GJB1 gene mutations
- Mutations not only in the exons
- MPZ
- CMT1B
- CMT1B (MPZ)
- MFN2 (1)
- CMT2A MFN2 (1)
- CMT2A MFN2 (2)
- MFN2 mutations cause severe phenotypes
- Genetic diagnosis - 2014 (1)
- Diagnosis of CMT
- Diagnosis of HSAN/HSN
- Diagnosis of HMN
- Algorithm for diagnosis of CMT1
- Algorithm for diagnosis of CMT2
- Genetic diagnosis - 2014 (2)
- Whole genome sequencing in CMT
- Clinical implications of genetic advances in CMT
- New algorithm for diagnosing neuropathies
- Diagnostic challenges (1)
- Diagnostic challenges: no validating tests
- Is a mutation pathogenic? (1)
- Is a mutation pathogenic? (2)
- GJB1
- All mutations in GJB1 cause a phenotype
- Case of severe CMT2
- MTMR2
- Appropriate phenotype
- A case of severe axonal neuropathy (1)
- MFN2 (2)
- A case of severe axonal neuropathy (2)
- A case of severe axonal neuropathy (3)
- Published recessive mutations in MFN2
- Segregation within families
- MFN2 - mutation sequencing (1)
- MFN2 - mutation sequencing (2)
- Compound heterozygous mutation (1)
- Compound heterozygous mutation (2)
- MFN 2 deletion founder mutation in the UK
- HSN1/SPTLC2 neuropathy
- Mutation in SPTLC2 subunit
- HSAN/HSN - SPTLC2
- Functional studies
- HSAN I cases in the UK
- HSN1
- Deoxy sphingoids in HSN1
- Deoxy sphingoid bases in plasma
- Diagnostic challenges (2)
- Which gene might be pathogenic?
- Summary
Topics Covered
- Inherited neuropathies
- Charcot Marie Tooth disease is the commonest inherited neuropathy
- Four genes out of 78 account for over 60% of the cases of CMT
- Genotype / phenotype correlations explored
- Role of next generation sequencing discussed
Links
Series:
Categories:
Therapeutic Areas:
Talk Citation
Reilly, M.M. (2014, August 5). Inherited neuropathies [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 27, 2024, from https://doi.org/10.69645/UZXM2388.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Mary M. Reilly has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
A selection of talks on Neurology
Transcript
Please wait while the transcript is being prepared...
0:00
I'm
professor Mary Reilly.
I am head of the Peripheral
Nerve Section of the MRC Center
for Neuromuscular Diseases in the
UCL Institute of Neurology, London.
And today I'm going to talk
about inherited neuropathies.
0:15
So the content of
this lecture will be
divided into two overall portions.
The first is to define what I
mean by inherited neuropathies.
And the second is to show an
approach to diagnosis which would
encapsulate the clinical features,
pathogenesis, and what we
understand about
inherited neuropathies.
0:35
First of all, I'd
like to just remind
you what we are talking about.
We're talking about the peripheral
nervous system, which is not
the brain or the spinal cord, which
is the central nervous system.
The peripheral nervous system
includes the nerves in the arms
and the legs which are divided
into motor nerves, which travel
from the spinal cord to the
muscles and make muscles move,
and the sensory nerves where
people touch things and the touch
sensation or other
sensations go from the limbs
back up to the spinal cord.
1:06
This is a cartoon of
a peripheral nerve.
As you will see, the nerve contains
fascias, and in these fascias
there are individual bundles of
nerves separated from each other
by connective tissue
and by blood vessels.
1:22
This is an example of a human
normal peripheral nerve,
which is biopsied
from a sural nerve.
In this, you can
see like the cartoon
that we have a number of fascias.
And in between the
fascias, connective
tissue and blood vessels.
1:38
This is a higher magnification
of the same nerve.
And now you begin to see
the individual nerve fibers.
What you can see is the pain
center which is the axon
and this is surrounded by the darker
staining material which is myelin.
These fibers are
myelinated nerve fibers.
We'll also see some very
small myelinated nerve fibers.