Abstract
Much has been achieved in terms of understanding the complex clinical and genetic heterogeneity of Charcot-Marie-Tooth neuropathy (CMT). Since the identification of mutations in the first CMT associated gene, PMP22, the technological advancement in molecular genetics and gene technology has allowed scientists to generate diverse animal models expressing monogenetic mutations that closely resemble the CMT phenotype. Additionally, one can now culture patient-derived neurons in a dish using cellular reprogramming and differentiation techniques. Nevertheless, despite the fact that finding a disease-causing mutation offers a precise diagnosis, there is no cure for CMT at present. This review will shed light on the exciting advancement in CMT disease modelling, the breakthroughs, pitfalls, current challenges for scientists and key considerations to move the field forward towards successful therapies.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 58-67 |
| Number of pages | 10 |
| Journal | Journal of Neurology, Neurosurgery and Psychiatry |
| Volume | 90 |
| Issue number | 1 |
| DOIs | |
| State | Published - Jan 1 2019 |
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Keywords
- HMSN (CHARCOT-MARIE-TOOTH)
- neuropathy
ASJC Scopus subject areas
- Surgery
- Clinical Neurology
- Psychiatry and Mental health
Cite this
Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development. / Juneja, Manisha; Burns, Joshua; da Cunha Saporta, Mario; Timmerman, Vincent.
In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 90, No. 1, 01.01.2019, p. 58-67.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development
AU - Juneja, Manisha
AU - Burns, Joshua
AU - da Cunha Saporta, Mario
AU - Timmerman, Vincent
PY - 2019/1/1
Y1 - 2019/1/1
N2 - Much has been achieved in terms of understanding the complex clinical and genetic heterogeneity of Charcot-Marie-Tooth neuropathy (CMT). Since the identification of mutations in the first CMT associated gene, PMP22, the technological advancement in molecular genetics and gene technology has allowed scientists to generate diverse animal models expressing monogenetic mutations that closely resemble the CMT phenotype. Additionally, one can now culture patient-derived neurons in a dish using cellular reprogramming and differentiation techniques. Nevertheless, despite the fact that finding a disease-causing mutation offers a precise diagnosis, there is no cure for CMT at present. This review will shed light on the exciting advancement in CMT disease modelling, the breakthroughs, pitfalls, current challenges for scientists and key considerations to move the field forward towards successful therapies.
AB - Much has been achieved in terms of understanding the complex clinical and genetic heterogeneity of Charcot-Marie-Tooth neuropathy (CMT). Since the identification of mutations in the first CMT associated gene, PMP22, the technological advancement in molecular genetics and gene technology has allowed scientists to generate diverse animal models expressing monogenetic mutations that closely resemble the CMT phenotype. Additionally, one can now culture patient-derived neurons in a dish using cellular reprogramming and differentiation techniques. Nevertheless, despite the fact that finding a disease-causing mutation offers a precise diagnosis, there is no cure for CMT at present. This review will shed light on the exciting advancement in CMT disease modelling, the breakthroughs, pitfalls, current challenges for scientists and key considerations to move the field forward towards successful therapies.
KW - HMSN (CHARCOT-MARIE-TOOTH)
KW - neuropathy
UR - http://www.scopus.com/inward/record.url?scp=85050134239&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85050134239&partnerID=8YFLogxK
U2 - 10.1136/jnnp-2018-318834
DO - 10.1136/jnnp-2018-318834
M3 - Article
VL - 90
SP - 58
EP - 67
JO - Journal of Neurology, Neurosurgery and Psychiatry
JF - Journal of Neurology, Neurosurgery and Psychiatry
SN - 0022-3050
IS - 1
ER -