Chorea-acanthocytosis: a report of three new families and implications for genetic counselling

Area of Science:

• Neurology
• Genetics
• Hematology

Background:

• Chorea-acanthocytosis (CHA) is a rare inherited neurological disorder characterized by red blood cell abnormalities and involuntary movements.
• Previous reports of CHA families outside Japan are limited, highlighting the rarity and potential underdiagnosis of the condition.

Observation:

• This study details 4 patients from 3 families with CHA, including clinical presentations and magnetic resonance imaging (MRI) findings.
• Acanthocytes, or spiky red blood cells, are a key diagnostic feature, though not present in all affected family members (heterozygotes).

Findings:

• The inheritance pattern in these families strongly suggests an autosomal recessive mode.
• Two of the three probands were initially misdiagnosed with Huntington chorea, underscoring diagnostic challenges.

Implications:

• Chorea-acanthocytosis should be considered in the differential diagnosis of Huntington chorea, particularly in sporadic cases or families with no prior history.
• Increased awareness and recognition are needed to improve diagnosis and management of this rare disorder.