Natural History and Progression of Dentatorubral-Pallidoluysian Atrophy (DRPLA): A Retrospective Study of 22 Patients.

BACKGROUND

Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder and exhibits diverse clinical phenotypes depending on the age at disease onset. Motor and swallowing functions gradually deteriorate as the disease progresses.

OBJECTIVE

This study aimed to evaluate natural history and progression of DRPLA.

METHODS

We retrospectively analyzed patients with DRPLA (n = 22; juvenile-onset: 9, adult-onset: 13), investigating their age at disease onset and the associated clinical features. We determined the age at the beginning of gait disturbance, wheelchair requirement, and bedridden state as motor milestones, in addition to the age at the initiation of enteral nutrition.

RESULTS

The mean ages at disease onset were 12.4 and 36.7 years in juvenile- and adult-onset groups, respectively. Overall, epilepsy and myoclonus were observed more frequently in the juvenile-onset than in the adult-onset group, whereas choreoathetosis and psychiatric symptoms exhibited the opposite trend. Ataxia and cognitive impairment were observed in all patients. Additionally, median intervals from the onset of gait disturbance to wheelchair requirement and to bedridden state were 3.0 and 9.0 years in juvenile-onset group compared to 7.0 and 12.0 years in the adult-onset group. Enteral nutrition was administered to 17 patients (77.3%) and the age of initiation almost coincided with the age at which patients became bedridden.

CONCLUSIONS

Our analysis showed that the duration from wheelchair requirement to becoming bedridden was approximately 5 years in these two groups despite their different phenotypes, with several factors likely contributing to this outcome. Our findings help predict disease progression for patients and their families.