J Clin Neurol.  2019 Oct;15(4):566-568. 10.3988/jcn.2019.15.4.566.

Split Hand Syndrome in a Family with GARS-Associated Axonal Neuropathy

• Kang YR
• Kang KW
• Nam TS
• Im JH
• Kim SH
• Lee SJ

• KMID: 2467768
• DOI: http://doi.org/10.3988/jcn.2019.15.4.566

Abstract

No abstract available.

MeSH Terms

Axons*
Hand*
Humans

Figure

• 

  Fig. 1 Clinical and electrodiagnostic features, pedigree, and electropherogram. The patient (A, B, and arrow in F) and his mother (C and D) showed atrophy in the APB and FDI muscles, with the sparing of the hypothenar eminence (asterisks) including the ADM muscle (E). NCSs in the patient and his mother showed that CMAP amplitudes were reduced in the APB and FDI muscles but relatively preserved in the ADM muscle. The electrophysiological parameters of split hand syndrome consist of the SI, and the ratio and difference between the thenar and hypothenar muscles. The SI was calculated by multiplying the CMAP amplitudes recorded in the APB and FDI muscles, and dividing that value by the CMAP amplitude recorded in the ADM muscle. The detailed electrodiagnostic results including electromyography in the patient and his mother are presented in the Supplementary Tables 1 and 2 (in the online-only Data Supplement). F: Pedigree of affected individuals shown as solid symbols. G: Mutational analysis revealed a nonsynonymous heterozygous missense mutation (c.632C>T, p.Ser211Phe, red arrow) in exon 7 of the GARS gene. ADM: abductor digiti minimi, APB: abductor pollicis brevis, CMAP: compound muscle action potential, FDI: first dorsal interosseous, LT: left, NCS: nerve conduction study, NCV: nerve conduction velocity, RT: right, SI: split-hand index.

Reference

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