Brain Neurorehabil.  2020 Mar;13(1):e9. 10.12786/bn.2020.13.e9.

Chromosomal Deletion in 7q31.2-31.32 Involving Ca2⁺-Dependent Activator Protein for Secretion Gene in a Patient with Cerebellar Ataxia: a Case Report

Affiliations
  • 1Department and Research Institute of Rehabilitation Medicine, Yonsei University College of Medicine, Seoul, Korea. srcho918@yuhs.ac
  • 2Brain Korea 21 PLUS Project for Medical Science, Yonsei University, Seoul, Korea.

Abstract

We present a 33-year-old male patient with cerebellar ataxia. He was first considered to have a psychiatric conversion disorder but finally found to have chromosomal deletion in 7q31.2-31.32 involving Ca2⁺-dependent activator protein for secretion (CADPS) gene. When a targeted gene sequencing using next-generation sequencing panel and chromosomal microarray analysis were performed, an 8.6 Mb deletion within chromosome 7q31.2-31.32 was discovered. Deletion of CADPS gene in the 7q31.2-31.32 was suggested as the causative factor of cerebellar ataxia. Functional levels evaluated by Berg balance scale and modified Barthel index were improved via comprehensive rehabilitation including balance training and a dopamine agonist medication. To the best of our knowledge, this is the first report of chromosomal deletion in 7q31.2-31.32 including CADPS gene detected in patients with cerebellar ataxia.

Keyword

Cerebellar Ataxia; Chromosome Disorders; Ca2⁺-Dependent Activator Protein for Secretion, Human
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