DOI: 10.1177/03000605261463715 ISSN: 0300-0605

Clinical features of dentatorubral–pallidoluysian atrophy: A survey of Chinese patients

Na Zheng, Miao Li, Yun-Xia Wang, Guo-En Yao
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Objective

We aimed to characterize the clinical, magnetic resonance imaging, and genetic features of Chinese patients with dentatorubral–pallidoluysian atrophy.

Methods

In this retrospective case-series and literature-review study, we analyzed three affected members belonging to the same family diagnosed at our institution. We also reviewed genetically confirmed Chinese dentatorubral–pallidoluysian atrophy cases reported in the China National Knowledge Infrastructure, Wanfang, and PubMed databases up to 31 May 2025 and included additional 42 patients from separate families. Cases with available age at onset, initial symptoms, and CAG repeat size were included; cases without magnetic resonance imaging data were excluded only from imaging-specific analyses. Thus, the final cohort included 45 Chinese dentatorubral–pallidoluysian atrophy patients.

Results

Forty-five patients were analyzed. The median ATN1 CAG repeat count was 62 (range, 53–79), and mean age at onset was 28.22 ± 17.48 (range, 2–69) years. Seizures (46.7%) and gait instability (42.2%) were the most common initial manifestations. Multiple clinical manifestations frequently co-occurred, including gait instability (88.9%), cognitive impairment (73.3%), speech impairment (66.7%), seizures (64.4%), and involuntary movements (48.9%). Patients with seizure onset had larger CAG expansions and younger age at onset than those with gait-instability onset. Age at onset negatively correlated with CAG repeat count in the overall cohort and seizure-onset subgroup, but not in the gait-instability subgroup.

Conclusions

Larger ATN1 CAG repeat expansions may be associated with earlier onset, especially in seizure-predominant dentatorubral–pallidoluysian atrophy. Magnetic resonance imaging commonly shows cerebellar atrophy and white-matter or brainstem involvement. After excluding common causes, dentatorubral–pallidoluysian atrophy should be considered in patients presenting with unexplained combinations of seizures, ataxia, cognitive impairment, and a compatible family history.

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