Late Emergence of Parkinsonian Phenotype and Abnormal Dopamine Transporter Scan in Chorea-Acanthocytosis.

ABSTRACT: Chorea-acanthocytosis (ChAc) is a neurodegenerative condition predominantly manifesting with chorea and often acanthocytes on peripheral blood film. Abnormal appearances with 123I-FP-CIT single-photon emission computed tomography (SPECT) have not previously been reported in ChAc. We describe 2 cases with typical presentations of ChAc and late development of parkinsonism with asymmetric reduction in presynaptic striatal uptake on 123I-FP-CIT SPECT. Case 1, a 50-year-old male, developed micrographia and limb bradykinesia 14 years after initial presentation at the age of 30. Case 2, a 42-year-old female presenting with vocal tics and generalized dystonia at the age of 25, developed tremor, bradykinesia, and rigidity 11 years into the disease course. These cases represent the best description

SUBMITTER: Nagy A 

PROVIDER: S-EPMC6353500 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature