Parkinsonism & related disorders
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Parkinsonism Relat. Disord. · Feb 2007
LRRK2 mutations and Parkinson's disease in Sardinia--A Mediterranean genetic isolate.
The Leucine-Rich Repeat Kinase 2 (LRRK2) Gly2019Ser mutation is frequent among Parkinson's disease (PD) patients from the Arab, Jewish, and Iberian populations, while another mutation, Arg1441Gly, is common in the Basque population. We studied the prevalence of these mutations in Sardinia, a Mediterranean genetic isolate with peculiar structure and similarities with the Basque population. Among 98 Sardinian PD probands we detected one heterozygous Gly2019Ser carrier. ⋯ Our results suggest that the "Basque"LRRK2 mutation is absent or very rare in Sardinia. The Gly2019Ser mutation is present but its frequency is lower than that in Iberian, Arab, or Jewish populations. The identification of an 85-year-old, healthy Gly2019Ser carrier supports the concept that this mutation displays incomplete penetrance.
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Parkinsonism Relat. Disord. · Jan 2007
ReviewA rehabilitational approach to the management of Parkinson's disease.
Parkinson's disease is a complex, multifaceted, degenerative neurological condition which is becoming increasingly frequent as a result of the ageing of our population. It presents many challenges in management, which are not always most comprehensively addressed by a purely "medical" approach. This presentation outlines a rehabilitational, multidisciplinary team-based approach to the management of many aspects of this condition.
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Parkinsonism Relat. Disord. · Dec 2006
Comparative StudyEvaluation of sympathetic skin response in Parkinson's disease.
There is no clear definition on the role of sympathetic skin response (SSR) in the evaluation of patients with Parkinson's disease (PD). We recorded the SSR of the palms of 64 controls and 46 patients with PD to electrical stimulation of the median nerve at the wrist. We analyzed onset latency and peak-to-peak amplitude. ⋯ There was no association of these parameters with dysautonomic symptoms or R-R interval variation. In conclusion, there is a significant association between altered SSR and PD and an inverse correlation in this group of patients between SSR values and older age, greater severity and later onset of disease. Therefore, the study of SSR may provide valuable information on cholinergic sympathetic function in patients with PD.
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Parkinsonism Relat. Disord. · Apr 2006
Clinical TrialChronic stimulation of the subthalamic nucleus increases daily on-time without dyskinesia in advanced Parkinson's disease.
We assessed the efficacy of chronic stimulation of the subthalamic nucleus (STN-DBS) in 20 patients with Parkinson's disease (PD) by means of clinical assessments and patient diaries 12 months after surgery. STN-DBS reduced the UPDRS part III off-medication score by 33%, and successively improved complete daily on-time without dyskinesia at 12 months significantly. In conclusion, our study demonstrates the efficacy of chronic STN-DBS on motor features in a selected population of advanced PD patients. In addition to clinical assessments, patients' diaries serve as an essential tool to evaluate the functional motor status after STN-DBS.
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Parkinsonism Relat. Disord. · Dec 2005
Case ReportsIsolated continuous rhythmic involuntary tongue movements following a pontine infarct.
Isolated involuntary tongue movements are rare and poorly understood. The anatomical substrate and pathogenesis underlying involuntary tongue movements remain elusive. We describe a patient who developed isolated continuous rhythmic involuntary tongue movements after pontine infarct without evidence of hypertrophy of inferior olivary nucleus on follow-up magnetic resonance image. We discuss the rhythmic involuntary tongue movements as a prototype of involuntary hyperkinetic movement released by a central pacemaker.