HSP and its ‘cousin’ CMT

People with Charcot-Marie-Tooth condition (CMT) often share some similar symptoms with HSPers. This study is now comparing both the genetics and the impaired cellular functions of the two conditions.


In this review we focus on Charcot-Marie-Tooth (CMT) neuropathies and hereditary spastic paraplegias (HSPs). Although these diseases differ in whether they primarily affect the peripheral or central nervous system, both are genetically determined, progressive, long axonopathies that affect motor and sensory pathways. This commonality suggests that there might be similarities in the molecular pathology underlying these conditions, and here we compare the molecular genetics and cellular pathology of the two groups.


SOURCE:  Exp Neurol. 2012 Jan 18. [Epub ahead of print] Copyright © 2012 Elsevier Inc. All rights reserved.  PMID: 22285450 [PubMed – as supplied by publisher]


Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias.


Timmerman V, Clowes VE, Reid E.


Peripheral Neuropathy Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium & Neurogenetics Laboratory, Institute Born Bunge, University of Antwerp, Antwerpen, Belgium.




  1. I was diagnosed with CMT 2 with HSP by Michael Shy, M.D. at the University of Iowa. I am interested in learning more about this diagnosis.

    1. Editor’s Note: Bonnie, CMT type 2 is thought to be identical to SPG10 HSP https://hspersunite.org.au/link-found-between-hsp-charcot-marie-tooth-disease/. However you will need to ask this question of your doctor who made this diagnosis. A definitive genetic diagnosis is necessary to clarify whatever connection there may be. CMT has also been associated with SPG4, 11 and 57 types of HSP. Enter the search term ‘Charcot’ in the Search box on any page of the website and it will bring up all the relevant articles regarding CMT and HSP archived here.

Your email address will not be published. Required fields are marked *