PURPOSE OF REVIEW: The aim is to specify the genetic causes of dominantly and recessively inherited axonal forms of Charcot-Marie-Tooth disease (CMT) and review the biological basis for these disorders. RECENT FINDINGS: More than 10 genes that cause axonal CMT have been identified over the past decade. Many of these genes express proteins that are ubiquitously expressed. Clinical phenotypes of many of these disorders are being studied and animal and cellular models of these neuropathies have been created. SUMMARY: Identification of these new genetic causes of axonal neuropathy has not only been important for patients and their families but it has also provided exciting new information about disease mechanisms involved in neuronal degeneration. These mechanisms extend beyond the field of axonal CMT and have relevance to sensory neuropathies and motor neuron disorders. Therapeutic strategies for some of these are also provided. We hope that this review will be of interest to clinicians and scientists interested in axonal forms of CMT.
PURPOSE OF REVIEW: The aim is to specify the genetic causes of dominantly and recessively inherited axonal forms of Charcot-Marie-Tooth disease (CMT) and review the biological basis for these disorders. RECENT FINDINGS: More than 10 genes that cause axonal CMT have been identified over the past decade. Many of these genes express proteins that are ubiquitously expressed. Clinical phenotypes of many of these disorders are being studied and animal and cellular models of these neuropathies have been created. SUMMARY: Identification of these new genetic causes of axonal neuropathy has not only been important for patients and their families but it has also provided exciting new information about disease mechanisms involved in neuronal degeneration. These mechanisms extend beyond the field of axonal CMT and have relevance to sensory neuropathies and motor neuron disorders. Therapeutic strategies for some of these are also provided. We hope that this review will be of interest to clinicians and scientists interested in axonal forms of CMT.
Authors: Yueqin Zhou; Sharon Carmona; A K M G Muhammad; Shaughn Bell; Jesse Landeros; Michael Vazquez; Ritchie Ho; Antonietta Franco; Bin Lu; Gerald W Dorn; Shaomei Wang; Cathleen M Lutz; Robert H Baloh Journal: J Clin Invest Date: 2019-03-18 Impact factor: 14.808
Authors: Eric Villalón; Monir Shababi; Rachel Kline; Zachary C Lorson; Kyra M Florea; Christian L Lorson Journal: Hum Mol Genet Date: 2018-02-15 Impact factor: 6.150
Authors: Adijat A Adebola; Theo Di Castri; Chui-Zhen He; Laura A Salvatierra; Jian Zhao; Kristy Brown; Chyuan-Sheng Lin; Howard J Worman; Ronald K H Liem Journal: Hum Mol Genet Date: 2014-12-30 Impact factor: 6.150
Authors: Ellen Cottenie; Andrzej Kochanski; Albena Jordanova; Boglarka Bansagi; Magdalena Zimon; Alejandro Horga; Zane Jaunmuktane; Paola Saveri; Vedrana Milic Rasic; Jonathan Baets; Marina Bartsakoulia; Rafal Ploski; Pawel Teterycz; Milos Nikolic; Ros Quinlivan; Matilde Laura; Mary G Sweeney; Franco Taroni; Michael P Lunn; Isabella Moroni; Michael Gonzalez; Michael G Hanna; Conceicao Bettencourt; Elodie Chabrol; Andre Franke; Katja von Au; Markus Schilhabel; Dagmara Kabzińska; Irena Hausmanowa-Petrusewicz; Sebastian Brandner; Siew Choo Lim; Haiwei Song; Byung-Ok Choi; Rita Horvath; Ki-Wha Chung; Stephan Zuchner; Davide Pareyson; Matthew Harms; Mary M Reilly; Henry Houlden Journal: Am J Hum Genet Date: 2014-10-30 Impact factor: 11.025
Authors: Rory Mitchell; Graham Campbell; Marta Mikolajczak; Katie McGill; Don Mahad; Sue M Fleetwood-Walker Journal: Mol Neurobiol Date: 2019-01-28 Impact factor: 5.590