Abstract: Objective To analyze the clinical manifestations, gene changes and brain MRI in patients with dentatorubral pallidoluysian atrophy(DRPLA). Methods The clinical characteristics of 3 DRPLA patients treated in our hospital were collected, and the clinical data of DRPLA patients reported in our country were summarized. Results Clinical data from a total of 35 DRPLA patients were collected. The average age of onset was(25.5±15.4)years, and the range of cytosine-adenine-guanine(CAG)repetitions at 12p13.31 of ATN1 gene was 53-79 times. The age of onset was negatively correlated with the number of CAG repetitions(r=-0.846, P<0.001). The main clinical manifestations of different subtypes, including juvenile type, early-onset adult type, and late-onset adult type, were quite different. Juvenile patients usually had seizures, cognitive impairment and walking instability, complicated with involuntary movements or mental disorder; Early-onset adult patients typically had walking instability, involuntary movement and cognitive impairment, with approximately half of the patients exhibiting seizures; Late-onset adult type patients had signs of walking instability, but seizures were rare. Brain MRI of 29 patients showed that cerebellar atrophy(93.1%, 27/29)and brainstem atrophy(69.0%, 20/29)were the most frequently observed abnormalities, followed by cortical atrophy(51.7%, 15/29)and white matter lesions(51.7%, 15/29). Conclusion High number of repeats of CAG sequence of ATN1 gene in DRPLA patients is associated with young age of onset. The clinical manifestations are diverse. For patients with epilepsy, ataxia, cognitive impairment or involuntary movement, along with a positive autosomal dominant family history, both brain MRI and ATN1 gene detection are recommended.

Key words: Dentatorubral pallidoluysian atrophy, ATN1 gene, Clinical characteristics, Subtypes, Imaging examination