HIGH-INTENSITY PROTON AND T-2-WEIGHTED MRI SIGNALS IN THE GLOBUS-PALLIDUS IN JUVENILE-TYPE OF DENTATORUBRAL AND PALLIDOLUYSIAN ATROPHY

Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal domin ant neurodegenerative disorder. An expanded CAG trinucleotide repeat s equence motif in a gene on the short arm of chromosome 12 has recently been identified in patients with DRPLA. Juvenile-type DRPLA is charac terized by childhood onset and progressive myoclonic epilepsy (PME). A ccording to the pathological study, the degeneration of the globus pal lidus is more marked in this than in other types. We observed high-int ensity signals in the globus pallidus on proton and T-2-weighted magne tic resonance imaging (MRI) in a patient clinically diagnosed as juven ile-type DRPLA who had the expanded CAG trinucleotide repeat motif in the DRPLA gene. The globus pallidus may be affected in the early stage s of this type of DRPLA, and MRI may be useful for the early diagnosis of DRPLA.