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.

    1. Editor’s Note: The only knowledge we have about CMT results from the fact that there is considerable genetic and clinical overlap between the two syndromes, HSP and CMT. Over time, more evidence emerges of such overlap, with SPGs 10, 11 and 26 known to overlap with CMT. CMT type II is thought to be identical with SPG10. So there are cases where spasticity is described in people with CMT, but reference to a 2019 review of CMT did not describe spasticity amongst the clinical features, with the focus being on neuropathy and muscle atrophy. This would suggest that the best answer to your question may be “rarely” but this is not our area and you should ask people well-versed in CMT.

  2. I have both CMT and HSP9a both genetically diagnosed. I also had Lyme disease which made my symptoms worse.

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