Dejerine-Sottas disease

Definition:

Dejerine-Sottas disease (DSD), also known as Charcot-Marie-Tooth disease type 3, is a severe, demyelinating neuropathy, presenting in infancy with delayed motor development, very slow nerve conduction velocities and elevated CSF protein. Progression is severe and walking ability is lost early. Hypomyelination and classic onion bulbs are the pathological hallmarks. Mutations in MPZ, PMP22, EGR2, and PRX are the most common causes of DSD. In more than 50% of cases, a causative genetic mutation cannot be identified.

References:

[1]. J M Pearce, et al. Dejerine-Sottas disease (progressive hypertrophic polyneuropathy). Eur Neurol. 2006;55(2):115-7. [Content Brief]

[2]. Jonathan Baets, et al. Genetic spectrum of hereditary neuropathies with onset in the first year of life. Brain. 2011 Sep;134(Pt 9):2664-76. [Content Brief]

[3]. Khalid Al-Thihli, et al. Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype. Am J Med Genet A. 2008 Sep 15;146A(18):2412-6. [Content Brief]

[4]. Sanne M R Hobbelink, et al. Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity. Brain Behav. 2018 Feb 21;8(4):e00919. [Content Brief]

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