J Clin Neurol.  2018 Apr;14(2):261-263. 10.3988/jcn.2018.14.2.261.

Coexistence of Amyotrophic Lateral Sclerosis in the Proband of an X-Linked Charcot-Marie-Tooth Disease Type 1 Pedigree in China

• Feng SY
• Feng SM
• Li LY
• Zou ZY

• KMID: 2407961
• DOI: http://doi.org/10.3988/jcn.2018.14.2.261

Abstract

No abstract available.

MeSH Terms

Amyotrophic Lateral Sclerosis*
Charcot-Marie-Tooth Disease*
China*
Pedigree*

Figure

• 

  Fig. 1 Clinical features of the proband and segregation analysis of the GJB1 p.E208K mutation. A: The pedigree of the proband diagnosed with CMTX1 and ALS. B: The clinical features of the proband, with obvious atrophy tongue and bilateral claw hands and pes cavus. C: Spontaneous activities in an EMG examination in the proband. D: Brain MRI showed increased symmetrical FLAIR signal intensity in the posterior limb of the internal capsule (arrows). E: Segregation analysis of the GJB1 p.E208K mutation. ALS: amyotrophic lateral sclerosis, CMTX1: Charcot-Marie-Tooth disease type 1, FDI: first dorsal interosseous, FLAIR: fluid attenuation inversion recovery, GJB1: gap junction beta-1.

Reference

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