Literature DB >> 14557576

Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity.

G Lus1, E Nelis, A Jordanova, A Löfgren, T Cavallaro, A Ammendola, M A B Melone, N Rizzuto, V Timmerman, R Cotrufo, P De Jonghe.   

Abstract

The authors report an Italian family with autosomal-dominant Charcot-Marie-Tooth disease (CMT) in which there were giant axons in the sural nerve biopsy. Linkage to the known CMT2 loci (CMT2A, CMT2B, CMT2D, CMT2F) and mutations in the known CMT2 genes (Cx32, MPZ, NEFL), GAN, NEFM, and CMT1A duplication/HNPP deletion were excluded. This family with CMT and giant axons has a pathologic and genetic entity distinct from classic CMT.

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Year:  2003        PMID： 14557576     DOI： 10.1212/wnl.61.7.988

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  10 in total

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2.  Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.

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7.  Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.

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Review 8.  New evidence for secondary axonal degeneration in demyelinating neuropathies.

Authors:  Kathryn R Moss; Taylor S Bopp; Anna E Johnson; Ahmet Höke
Journal:  Neurosci Lett       Date:  2020-12-24       Impact factor: 3.046

9.  The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.

Authors:  Alexia Boizot; Yasmina Talmat-Amar; Deborah Morrogh; Nancy L Kuntz; Cecile Halbert; Brigitte Chabrol; Henry Houlden; Tanya Stojkovic; Brenda A Schulman; Bernd Rautenstrauss; Pascale Bomont
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Review 10.  Charcot Marie Tooth 2B Peripheral Sensory Neuropathy: How Rab7 Mutations Impact NGF Signaling?

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Journal:  Int J Mol Sci       Date:  2017-02-04       Impact factor: 5.923
  10 in total

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