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Dentatorubral-pallidoluysian Atrophy: An Update
Liam S Carroll1, Thomas H Massey2, Mark Wardle3
1Department of Neurology, Wessex Neurological Centre, Southampton General Hospital, Southampton, UK.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)
|November 10, 2018
Summary
Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder with no cure. Early diagnosis of DRPLA is crucial for patient care and accessing available treatments.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, autosomal dominant neurodegenerative disorder.
- Characterized by myoclonus, epilepsy, ataxia, and dementia, DRPLA diagnosis is challenging due to overlapping symptoms with other spinocerebellar ataxias.
- A CAG repeat expansion in the ATN1 gene causes neuronal intranuclear inclusions and loss.
Purpose of the Study:
- To review current literature on DRPLA and ATN1 gene mutations.
- To identify gaps in knowledge and areas for future research in DRPLA.
Main Methods:
- An online literature search was conducted using PubMed for articles on DRPLA or ATN1 published in English over the last 10 years.
- Included contemporary articles from related research fields, such as Huntington's Disease.
- Reviewed 69 cited articles, including case reports, series, model systems, population studies, and clinical trials.
Main Results:
- The review identified 69 relevant articles from an initial search.
- The literature comprises case reports, series, model systems, population studies, and clinical trials.
- No disease-modifying or curative treatments for DRPLA are currently available.
Conclusions:
- DRPLA is an intractable, progressive neurodegenerative disorder without effective treatment.
- Early recognition of DRPLA can improve patient understanding and access to care.
- Large-scale studies are needed to fully characterize DRPLA's allelic architecture, phenotypic spectrum, and treatment responses.
