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Chorea-acanthocytosis associated with Tourettism
Shinji Saiki1, Genjiro Hirose1, Koichiro Sakai1
1Department of Neurology, Kanazawa Medical University, Ishikawa, Japan.
Summary
Chorea-acanthocytosis (ChAc) can present with Tourettism, including tics and ADHD. Brain imaging (FDG-PET) did not fully explain symptom variations between affected siblings.
Area of Science:
- Neurogenetics
- Movement Disorders
- Neuroimaging
Background:
- Chorea-acanthocytosis (ChAc) is a rare neurodegenerative disorder.
- ChAc typically involves movement abnormalities and cognitive decline.
- Tourettism, characterized by motor and vocal tics, ADHD, and OCD, is not a commonly reported association.
Observation:
- A case of Chorea-acanthocytosis (ChAc) is presented with concurrent Tourettism.
- The patient exhibited motor/vocal tics, ADHD, and OCD alongside typical ChAc symptoms.
- Comparison was made with an elder sister with ChAc but a milder clinical and neuroradiological profile.
Findings:
- The co-occurrence of ChAc and Tourettism broadens the clinical spectrum of ChAc.
- Despite similar genetic conditions, significant clinical heterogeneity was observed between siblings.
- [(18)F]-2-fluoro-2-deoxyglucose positron emission tomography (FDG-PET) findings did not fully elucidate the observed symptomatological differences, though a correlation with disease severity was suggested.
Implications:
- This case highlights the complex interplay between genetic disorders and phenotypic variability.
- Understanding the full spectrum of ChAc manifestations is crucial for accurate diagnosis and management.
- Further research is needed to explore the neurobiological underpinnings of ChAc and associated Tourettism.