Acta clinica Croatica, Vol. 53. No. 1., 2014.
Ostalo
Chorea-Acanthocytosis Presenting as Dystonia
Jan Kobal
orcid.org/0000-0002-8128-3836
Carol Dobson-Stone
Adrian Danek
Valentin Fidler
Bojana Zvan
Marjan Zaletel
Sažetak
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.
Ključne riječi
Neuroacanthocytosis; Dystonia; Chorea; VPS13A testing; Levodopa
Hrčak ID:
126158
URI
Datum izdavanja:
1.3.2014.
Posjeta: 1.537 *