Chorea-acanthocytosis presenting as dystonia.

Area of Science:

• Genetics
• Neurology
• Movement Disorders

Background:

• Chorea-acanthocytosis (ChAc) is a rare neurodegenerative disorder.
• Atypical phenotypes of ChAc can pose diagnostic challenges.
• VPS13A gene mutations are the primary cause of ChAc.

Observation:

• Two Slovenian siblings presented with an unusual, predominantly dystonic ChAc phenotype.
• Clinical examination revealed gait, tongue, and feeding dystonia, impacting swallowing.
• Brain imaging included MRI and Tc-ECD SPECT.

Findings:

• Genetic analysis identified heterozygous mutations in the VPS13A gene (c.2191C>T and c.3995_3996delinsA).
• L-dopa treatment over three months led to significant symptomatic improvement in dystonia, as measured by the Dystonia Movement and Disability Scale (DMDS).

Implications:

• VPS13A mutation screening can aid in diagnosing dystonia and recognizing atypical ChAc presentations.
• L-dopa may be an effective treatment for dystonia associated with VPS13A mutations.