High-intensity proton and T2-weighted MRI signals in the globus pallidus in juvenile-type of dentatorubral and pallidoluysian atrophy.

Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder. An expanded CAG trinucleotide repeat sequence motif in a gene on the short arm of chromosome 12 has recently been identified in patients with DRPLA. Juvenile-type DRPLA is characterized by childhood onset and progressive myoclonic epilepsy (PME). According to the pathological study, the degeneration of the globus pallidus is more marked in this than in other types. We observed high-intensity signals in the globus pallidus on proton and T2-weighted magnetic resonance imaging (MRI) in a patient clinically diagnosed as juvenile-type DRPLA who had the expanded CAG trinucleotide repeat motif in the DRPLA gene. The globus pallidus may be affected in the early stages of this type of DRPLA, and MRI may be useful for the early diagnosis of DRPLA.