X-linked dystonia Parkinsonism: crossing a new threshold.

Autor: Ng AR; Movement Disorders Service and Section of Neurology, Institute for Neurosciences, St. Luke's Medical Center, Quezon City, Philippines. arng@stlukes.com.ph.; Institute for Neurosciences, St. Luke's Medical Center Global City, Rizal Drive cor. 32nd Ave, Bonifacio Global City, 1634, Taguig City, Philippines. arng@stlukes.com.ph., Jamora RDG; Movement Disorders Service and Section of Neurology, Institute for Neurosciences, St. Luke's Medical Center, Quezon City, Philippines.; Department of Neurosciences, College of Medicine-Philippine General Hospital, University of the Philippines Manila, Manila, Philippines.; Institute for Neurosciences, St. Luke's Medical Center Global City, Rizal Drive cor. 32nd Ave, Bonifacio Global City, 1634, Taguig City, Philippines., Rosales RL; Movement Disorders Service and Section of Neurology, Institute for Neurosciences, St. Luke's Medical Center, Quezon City, Philippines.; Department of Neurology and Psychiatry, University of Santo Tomas Hospital, Manila, Philippines.; Center for Neurodiagnostic and Therapeutic Services, Metropolitan Medical Center, Manila, Philippines.
Jazyk: angličtina
Zdroj: Journal of neural transmission (Vienna, Austria : 1996) [J Neural Transm (Vienna)] 2021 Apr; Vol. 128 (4), pp. 567-573. Date of Electronic Publication: 2021 Mar 15.
DOI: 10.1007/s00702-021-02324-0
Abstrakt: X-linked dystonia parkinsonism (XDP) is a neurodegenerative disorder that has received significant interest on several fronts. Although much still remains to be elucidated regarding the disease cause, a robust amount of data has been produced in recent years compared to when it was first described in 1976. The debilitating nature of the overlapping dystonia and parkinsonism that characterizes this disorder has fueled much of the interest in unraveling its cause, clinical presentation, symptom progression, treatment and impact on the afflicted patients as well as their caregivers. Having made several significant advances in genetic studies, neuropathology, neurophysiology and clinical characterization, we are entering a new threshold in the study of this disorder, hopefully bringing us closer to potential treatments and possible cures. This review will focus on new information gathered regarding the motor and non-motor features of XDP, deep brain stimulation (DBS) as a potential treatment for XDP and the utility of the recently validated XDP-Movement Disorder Society of the Philippines (MDSP)-rating scale.
Databáze: MEDLINE