Charcot-Marie-Tooth: From Molecules to Therapy
Charcot-Marie-Tooth (CMT) is the most prevalent category of inherited neuropathy. The most common inheritance pattern is autosomal dominant, though there also are X-linked and autosomal recessive subtypes. In addition to a variety of inheritance patterns, there are a myriad of genes associated with...
Gespeichert in:
| Veröffentlicht in: | International journal of molecular sciences 2019-07, Vol.20 (14), p.3419 |
|---|---|
| Hauptverfasser: | , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | |
|---|---|
| container_issue | 14 |
| container_start_page | 3419 |
| container_title | International journal of molecular sciences |
| container_volume | 20 |
| creator | Morena, Jonathan Gupta, Anirudh Hoyle, J Chad |
| description | Charcot-Marie-Tooth (CMT) is the most prevalent category of inherited neuropathy. The most common inheritance pattern is autosomal dominant, though there also are X-linked and autosomal recessive subtypes. In addition to a variety of inheritance patterns, there are a myriad of genes associated with CMT, reflecting the heterogeneity of this disorder. Next generation sequencing (NGS) has expanded and simplified the diagnostic yield of genes/molecules underlying and/or associated with CMT, which is of paramount importance in providing a substrate for current and future targeted disease-modifying treatment options. Considerable research attention for disease-modifying therapy has been geared towards the most commonly encountered genetic mutations (
,
,
, and
). In this review, we highlight the clinical background, molecular understanding, and therapeutic investigations of these CMT subtypes, while also discussing therapeutic research pertinent to the remaining less common CMT subtypes. |
| doi_str_mv | 10.3390/ijms20143419 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6679156</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2263324527</sourcerecordid><originalsourceid>FETCH-LOGICAL-c478t-1f314a945b269b92e31afcd2f40b1e0ae8ef07dce13a12cbd9ef74805c46efe73</originalsourceid><addsrcrecordid>eNpdkc1Lw0AQxRdRbP24eZaAFw-m7u5sNokHQYpVocVLPS-b7cSkJNm6mwj9701pLdXTDMyPN_PmEXLF6AggpfflsvacMgGCpUdkyATnIaUyPj7oB-TM-yWlHHiUnpIBMACZMDkko3GhnbFtONOuxHBubVs8BBNn62BmKzRdhT5obTAv0OnV-oKc5LryeLmr5-Rj8jwfv4bT95e38dM0NCJO2pDlwIRORZRxmWYpR2A6NwueC5oxpBoTzGm8MMhAM26yRYp5LBIaGSExxxjOyeNWd9VlNfZg0zpdqZUra-3WyupS_Z00ZaE-7beSMk5ZJHuB252As18d-lbVpTdYVbpB23nFuQTgIuKbXTf_0KXtXNPbUxwAooQCFT11t6WMs947zPfHMKo2QajDIHr8-tDAHv79PPwAIwyDjQ</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2333580304</pqid></control><display><type>article</type><title>Charcot-Marie-Tooth: From Molecules to Therapy</title><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>MDPI - Multidisciplinary Digital Publishing Institute</source><source>PubMed Central</source><creator>Morena, Jonathan ; Gupta, Anirudh ; Hoyle, J Chad</creator><creatorcontrib>Morena, Jonathan ; Gupta, Anirudh ; Hoyle, J Chad</creatorcontrib><description>Charcot-Marie-Tooth (CMT) is the most prevalent category of inherited neuropathy. The most common inheritance pattern is autosomal dominant, though there also are X-linked and autosomal recessive subtypes. In addition to a variety of inheritance patterns, there are a myriad of genes associated with CMT, reflecting the heterogeneity of this disorder. Next generation sequencing (NGS) has expanded and simplified the diagnostic yield of genes/molecules underlying and/or associated with CMT, which is of paramount importance in providing a substrate for current and future targeted disease-modifying treatment options. Considerable research attention for disease-modifying therapy has been geared towards the most commonly encountered genetic mutations (
,
,
, and
). In this review, we highlight the clinical background, molecular understanding, and therapeutic investigations of these CMT subtypes, while also discussing therapeutic research pertinent to the remaining less common CMT subtypes.</description><identifier>ISSN: 1422-0067</identifier><identifier>ISSN: 1661-6596</identifier><identifier>EISSN: 1422-0067</identifier><identifier>DOI: 10.3390/ijms20143419</identifier><identifier>PMID: 31336816</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>Amyloidosis ; Animals ; Ataxia ; Atrophy ; Biomarkers ; Central nervous system ; Charcot-Marie-Tooth disease ; Charcot-Marie-Tooth Disease - diagnosis ; Charcot-Marie-Tooth Disease - etiology ; Charcot-Marie-Tooth Disease - metabolism ; Charcot-Marie-Tooth Disease - therapy ; Clinical Trials as Topic ; Combined Modality Therapy ; Demyelination ; Diaphragm ; Etiology ; Exercise ; Fabry's disease ; Friedreich's ataxia ; Gene expression ; Genes, Recessive ; Genes, X-Linked ; Genetic Association Studies ; Genetic Therapy ; Humans ; Leukodystrophy ; Lipids ; Lysosomal storage diseases ; Mitochondria ; Mutation ; Optic atrophy ; Paralysis ; Phenotype ; Physical fitness ; Porphyria ; Proteins ; Refsum's disease ; Restless legs syndrome ; Review ; Substantia alba ; Treatment Outcome ; Velocity</subject><ispartof>International journal of molecular sciences, 2019-07, Vol.20 (14), p.3419</ispartof><rights>2019. This work is licensed under https://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2019 by the authors. 2019</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c478t-1f314a945b269b92e31afcd2f40b1e0ae8ef07dce13a12cbd9ef74805c46efe73</citedby><cites>FETCH-LOGICAL-c478t-1f314a945b269b92e31afcd2f40b1e0ae8ef07dce13a12cbd9ef74805c46efe73</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679156/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679156/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,27903,27904,53769,53771</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31336816$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Morena, Jonathan</creatorcontrib><creatorcontrib>Gupta, Anirudh</creatorcontrib><creatorcontrib>Hoyle, J Chad</creatorcontrib><title>Charcot-Marie-Tooth: From Molecules to Therapy</title><title>International journal of molecular sciences</title><addtitle>Int J Mol Sci</addtitle><description>Charcot-Marie-Tooth (CMT) is the most prevalent category of inherited neuropathy. The most common inheritance pattern is autosomal dominant, though there also are X-linked and autosomal recessive subtypes. In addition to a variety of inheritance patterns, there are a myriad of genes associated with CMT, reflecting the heterogeneity of this disorder. Next generation sequencing (NGS) has expanded and simplified the diagnostic yield of genes/molecules underlying and/or associated with CMT, which is of paramount importance in providing a substrate for current and future targeted disease-modifying treatment options. Considerable research attention for disease-modifying therapy has been geared towards the most commonly encountered genetic mutations (
,
,
, and
). In this review, we highlight the clinical background, molecular understanding, and therapeutic investigations of these CMT subtypes, while also discussing therapeutic research pertinent to the remaining less common CMT subtypes.</description><subject>Amyloidosis</subject><subject>Animals</subject><subject>Ataxia</subject><subject>Atrophy</subject><subject>Biomarkers</subject><subject>Central nervous system</subject><subject>Charcot-Marie-Tooth disease</subject><subject>Charcot-Marie-Tooth Disease - diagnosis</subject><subject>Charcot-Marie-Tooth Disease - etiology</subject><subject>Charcot-Marie-Tooth Disease - metabolism</subject><subject>Charcot-Marie-Tooth Disease - therapy</subject><subject>Clinical Trials as Topic</subject><subject>Combined Modality Therapy</subject><subject>Demyelination</subject><subject>Diaphragm</subject><subject>Etiology</subject><subject>Exercise</subject><subject>Fabry's disease</subject><subject>Friedreich's ataxia</subject><subject>Gene expression</subject><subject>Genes, Recessive</subject><subject>Genes, X-Linked</subject><subject>Genetic Association Studies</subject><subject>Genetic Therapy</subject><subject>Humans</subject><subject>Leukodystrophy</subject><subject>Lipids</subject><subject>Lysosomal storage diseases</subject><subject>Mitochondria</subject><subject>Mutation</subject><subject>Optic atrophy</subject><subject>Paralysis</subject><subject>Phenotype</subject><subject>Physical fitness</subject><subject>Porphyria</subject><subject>Proteins</subject><subject>Refsum's disease</subject><subject>Restless legs syndrome</subject><subject>Review</subject><subject>Substantia alba</subject><subject>Treatment Outcome</subject><subject>Velocity</subject><issn>1422-0067</issn><issn>1661-6596</issn><issn>1422-0067</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNpdkc1Lw0AQxRdRbP24eZaAFw-m7u5sNokHQYpVocVLPS-b7cSkJNm6mwj9701pLdXTDMyPN_PmEXLF6AggpfflsvacMgGCpUdkyATnIaUyPj7oB-TM-yWlHHiUnpIBMACZMDkko3GhnbFtONOuxHBubVs8BBNn62BmKzRdhT5obTAv0OnV-oKc5LryeLmr5-Rj8jwfv4bT95e38dM0NCJO2pDlwIRORZRxmWYpR2A6NwueC5oxpBoTzGm8MMhAM26yRYp5LBIaGSExxxjOyeNWd9VlNfZg0zpdqZUra-3WyupS_Z00ZaE-7beSMk5ZJHuB252As18d-lbVpTdYVbpB23nFuQTgIuKbXTf_0KXtXNPbUxwAooQCFT11t6WMs947zPfHMKo2QajDIHr8-tDAHv79PPwAIwyDjQ</recordid><startdate>20190712</startdate><enddate>20190712</enddate><creator>Morena, Jonathan</creator><creator>Gupta, Anirudh</creator><creator>Hoyle, J Chad</creator><general>MDPI AG</general><general>MDPI</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>MBDVC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20190712</creationdate><title>Charcot-Marie-Tooth: From Molecules to Therapy</title><author>Morena, Jonathan ; Gupta, Anirudh ; Hoyle, J Chad</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c478t-1f314a945b269b92e31afcd2f40b1e0ae8ef07dce13a12cbd9ef74805c46efe73</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Amyloidosis</topic><topic>Animals</topic><topic>Ataxia</topic><topic>Atrophy</topic><topic>Biomarkers</topic><topic>Central nervous system</topic><topic>Charcot-Marie-Tooth disease</topic><topic>Charcot-Marie-Tooth Disease - diagnosis</topic><topic>Charcot-Marie-Tooth Disease - etiology</topic><topic>Charcot-Marie-Tooth Disease - metabolism</topic><topic>Charcot-Marie-Tooth Disease - therapy</topic><topic>Clinical Trials as Topic</topic><topic>Combined Modality Therapy</topic><topic>Demyelination</topic><topic>Diaphragm</topic><topic>Etiology</topic><topic>Exercise</topic><topic>Fabry's disease</topic><topic>Friedreich's ataxia</topic><topic>Gene expression</topic><topic>Genes, Recessive</topic><topic>Genes, X-Linked</topic><topic>Genetic Association Studies</topic><topic>Genetic Therapy</topic><topic>Humans</topic><topic>Leukodystrophy</topic><topic>Lipids</topic><topic>Lysosomal storage diseases</topic><topic>Mitochondria</topic><topic>Mutation</topic><topic>Optic atrophy</topic><topic>Paralysis</topic><topic>Phenotype</topic><topic>Physical fitness</topic><topic>Porphyria</topic><topic>Proteins</topic><topic>Refsum's disease</topic><topic>Restless legs syndrome</topic><topic>Review</topic><topic>Substantia alba</topic><topic>Treatment Outcome</topic><topic>Velocity</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Morena, Jonathan</creatorcontrib><creatorcontrib>Gupta, Anirudh</creatorcontrib><creatorcontrib>Hoyle, J Chad</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Research Library</collection><collection>Research Library (Corporate)</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>International journal of molecular sciences</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Morena, Jonathan</au><au>Gupta, Anirudh</au><au>Hoyle, J Chad</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Charcot-Marie-Tooth: From Molecules to Therapy</atitle><jtitle>International journal of molecular sciences</jtitle><addtitle>Int J Mol Sci</addtitle><date>2019-07-12</date><risdate>2019</risdate><volume>20</volume><issue>14</issue><spage>3419</spage><pages>3419-</pages><issn>1422-0067</issn><issn>1661-6596</issn><eissn>1422-0067</eissn><abstract>Charcot-Marie-Tooth (CMT) is the most prevalent category of inherited neuropathy. The most common inheritance pattern is autosomal dominant, though there also are X-linked and autosomal recessive subtypes. In addition to a variety of inheritance patterns, there are a myriad of genes associated with CMT, reflecting the heterogeneity of this disorder. Next generation sequencing (NGS) has expanded and simplified the diagnostic yield of genes/molecules underlying and/or associated with CMT, which is of paramount importance in providing a substrate for current and future targeted disease-modifying treatment options. Considerable research attention for disease-modifying therapy has been geared towards the most commonly encountered genetic mutations (
,
,
, and
). In this review, we highlight the clinical background, molecular understanding, and therapeutic investigations of these CMT subtypes, while also discussing therapeutic research pertinent to the remaining less common CMT subtypes.</abstract><cop>Switzerland</cop><pub>MDPI AG</pub><pmid>31336816</pmid><doi>10.3390/ijms20143419</doi><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1422-0067 |
| ispartof | International journal of molecular sciences, 2019-07, Vol.20 (14), p.3419 |
| issn | 1422-0067 1661-6596 1422-0067 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6679156 |
| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; MDPI - Multidisciplinary Digital Publishing Institute; PubMed Central |
| subjects | Amyloidosis Animals Ataxia Atrophy Biomarkers Central nervous system Charcot-Marie-Tooth disease Charcot-Marie-Tooth Disease - diagnosis Charcot-Marie-Tooth Disease - etiology Charcot-Marie-Tooth Disease - metabolism Charcot-Marie-Tooth Disease - therapy Clinical Trials as Topic Combined Modality Therapy Demyelination Diaphragm Etiology Exercise Fabry's disease Friedreich's ataxia Gene expression Genes, Recessive Genes, X-Linked Genetic Association Studies Genetic Therapy Humans Leukodystrophy Lipids Lysosomal storage diseases Mitochondria Mutation Optic atrophy Paralysis Phenotype Physical fitness Porphyria Proteins Refsum's disease Restless legs syndrome Review Substantia alba Treatment Outcome Velocity |
| title | Charcot-Marie-Tooth: From Molecules to Therapy |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-26T00%3A28%3A56IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Charcot-Marie-Tooth:%20From%20Molecules%20to%20Therapy&rft.jtitle=International%20journal%20of%20molecular%20sciences&rft.au=Morena,%20Jonathan&rft.date=2019-07-12&rft.volume=20&rft.issue=14&rft.spage=3419&rft.pages=3419-&rft.issn=1422-0067&rft.eissn=1422-0067&rft_id=info:doi/10.3390/ijms20143419&rft_dat=%3Cproquest_pubme%3E2263324527%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2333580304&rft_id=info:pmid/31336816&rfr_iscdi=true |