The aim of this article is to present two Slovenian
chorea-acanthocytosis (ChAc) siblings with an unusual predominantly dystonic ChAc phenotype. For diagnostic purposes, the genomic
DNA was screened for VPS13A mutations.
Movement disorder was evaluated and scored according to the
Dystonia Movement and Disability Scale (DMDS) in order to evaluate the effects of
L-dopa on
dystonia. Brain imaging was performed with the use of magnetic resonance imaging scan and 99m Tc-ethyl cysteinate dimmer single photon emission computed tomography (Tc-ECD SPECT). Clinical neurological examination disclosed gait
dystonia. Marked swallowing difficulty due to tongue and feeding
dystonia was observed. Both siblings were found to be heterozygous for a substitution in exon 22 (c.2191C>T) and for a deletion in exon 35 (c.3995_3996delinsA) leading to mutation in VPS13A. After being administered
L-dopa for three months, both subjects showed significant symptomatic improvement documented by reduced DMDS scores. It is concluded that VPS13A mutation testing may improve diagnosis of
dystonia and recognition of atypical ChAc phenotypes. It seems that
L-dopa could be effective in the treatment of
dystonia due to VPS13A mutations.