Dentatorubral pallidoluysian atrophy

The signs and symptoms of DRPLA differ somewhat between affected children and adults. When DRPLA appears before age 20, it most often involves episodes of involuntary muscle jerking or twitching (myoclonus), seizures, behavioral changes, intellectual disability, and problems with balance and coordination (ataxia). When DRPLA begins after age 20, the most frequent signs and symptoms are ataxia, uncontrollable movements of the limbs (choreoathetosis), psychiatric symptoms such as delusions, and deterioration of intellectual function (dementia).


How common is DRPLA?
Previously, DRPLA was thought to primarily affect Japanese people, and was considered rare in Europe and the USA.However, more recent data has suggested that it may be an important genetic cause of late onset cerebellar ataxia in Caucasian patients, and the prevalence has been shown to be high in some regions of the UK, such as South Wales.
There is currently little information on the prevalence of cerebellar ataxias in the UK.However, a recent study of families in South Wales showed that DRPLA was the underlying genetic cause of 11.4% of families with dominant ataxia, compared to 0.4% in previously reported European series.This suggests that it is more common in the UK than previously thought, and likely to be under reported.[Wardle et al. JNNP 2007] Management of DRPLA Once a diagnosis has been confirmed, management of DRPLA is similar to that for all cerebellar ataxias.Physiotherapy may be helpful to help improve and maintain mobility.Speech and Language assessment and therapy may also be required.Occupational therapists can help determine any adaptations that need to be made in the home.
At present there are no disease modifying therapies available for any of the inherited ataxias, including DRPLA.However, there are a number of strategies that are useful in dealing with the effects of the disease.For example, fits (epilepsy) and involuntary movements (myoclonus, chorea) can be controlled with medications.In patients where there is a deterioration in intellectual function (dementia), support from a psychiatrist may be helpful in dealing with the effects on personality and memory.
In all cases it is important that each patient is seen regularly by a neurologist who can monitor their condition.Counselling, information, help and support are available to both the patient and their family from charities such as Ataxia UK (www.ataxia.org.uk) Research on DRPLA in the UK Dr Fanto's lab at King's College London studies the basic mechanisms that lead to loss of nerve cells in DRPLA using simple fly models of DRPLA.The lab is also engaged in research using more complex models, such as mouse models, which recapitulate more closely the human pathology as well as in samples from patients.This research is partly supported by Ataxia UK. (See more about this research at: https://www.ataxia.org.uk/international-research-conference).Clinical research on the distribution and frequency of DRPLA in the UK is undertaken by Dr Wardle and Professor Robertson at Cardiff University.

Disclaimer
This leaflet is for guidance purposes only and, while every care is taken to ensure its accuracy, no guarantee of accuracy can be given.Individual professional advice should be sought before taking or refraining from taking any action based on the information contained in this leaflet and nothing should be construed as professional advice given by Ataxia UK or any of its officers, trustees or employees.No person shall have any claim of any nature whatsoever arising out of or in connection with the contents of this leaflet against Ataxia UK or any of its officers, Trustees or employees.
Ataxia UK works across the whole of the UK and is a charity registered in Scotland (no SC040607) and in England and Wales (no 1102391) and a company limited by guarantee (4974832).
Dr Mark Wardle, Consultant Neurologist at the School of Medicine Cardiff University, and with Dr Olga Baron, Mr David Mazoud and Dr Manolis Fanto at King's College London.