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

• Hong S
• Lee SJ
• Cho SR

• KMID: 2469629
• DOI: http://doi.org/10.12786/bn.2020.13.e9

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

MeSH Terms

Adult
Cerebellar Ataxia*
Chromosome Disorders
Conversion Disorder
Dopamine Agonists
Humans
Male
Microarray Analysis
Rehabilitation
Dopamine Agonists