Parkinsonism & related disorders
-
Parkinsonism Relat. Disord. · Aug 2014
Case ReportsBilateral pallidal stimulation for sargoglycan epsilon negative myoclonus.
We report on the clinical efficacy of bilateral globus pallidus internus deep brain stimulation in two patients with myoclonus dystonia/essential myoclonus who lack mutations in the epsilon sarcoglycan gene. The primary outcome measures were the Burke-Fahn-Marsden Dystonia Scale motor severity and the Unified Myoclonus Rating Scale scores, and the secondary outcome measure was the 36-item Short Form Health Survey score at the last postoperative follow up. ⋯ Bilateral globus pallidus internus deep brain stimulation can be effective in ameliorating epsilon sarcoglycan negative myoclonus with or without concurrent dystonia. Whether an epsilon sarcoglycan negative status represents a less favorable prognostic factor for pallidal deep brain stimulation remains to be elucidated.
-
Parkinsonism Relat. Disord. · Jul 2014
Randomized Controlled TrialSubthalamic nucleus deep brain stimulation in early stage Parkinson's disease.
Deep brain stimulation (DBS) is an effective and approved therapy for advanced Parkinson's disease (PD), and a recent study suggests efficacy in mid-stage disease. This manuscript reports the results of a pilot trial investigating preliminary safety and tolerability of DBS in early PD. ⋯ This study demonstrates that subjects with early stage PD will enroll in and complete trials testing invasive therapies and provides preliminary evidence that DBS is well tolerated in early PD. The results of this trial provide the data necessary to design a large, phase III, double-blind, multicenter trial investigating the safety and efficacy of DBS in early PD.
-
To evaluate the clinical characteristics, associated features, and treatment response of a large orthostatic tremor series seen over a 26-year period. ⋯ In our population of orthostatic tremor patients, mild postural hand tremor was a frequent finding. Over half of our patients had a family history of tremor, but a family history of orthostatic tremor was uncommon. Additional neurological features were seen in the minority of patients and we report possibly the first case of dementia with Lewy bodies associated with orthostatic tremor. Our series is the largest series of orthostatic tremor reported in the literature and contributes to understanding the clinical characteristics of this rare disease.
-
Parkinsonism Relat. Disord. · May 2014
Parkinson's disease patients with subthalamic stimulation and carers judge quality of life differently.
Quality of life (QoL) improves under subthalamic deep brain stimulation (STN-DBS) in Parkinson's disease (PD), whereas social functioning may be disrupted. This disruption could negatively influence the family dynamic, leading to different perceptions of the STN-DBS outcome by patients and caregivers. ⋯ Unequal perception of QoL between patients and caregivers exists under STN-DBS. The fact that social functioning does not improve longitudinally is perhaps due to patient's higher levels of apathy and reduced motivation following surgery. Our findings stress the importance of considering caregiver's input in DBS patients' outcomes and the need for pre-operative preparation.
-
Parkinsonism Relat. Disord. · Apr 2014
CSF α-synuclein and UCH-L1 levels in Parkinson's disease and atypical parkinsonian disorders.
There is an unmet need for biomarkers for Parkinson's disease (PD) and atypical parkinsonian disorders (APD). α-Synuclein, linked to the pathogenesis of PD, is a promising biomarker candidate in need of further investigation. The ubiquitin carboxy-terminal hydrolase L1 (UCH-L1), a pivotal component of the ubiquitin proteasome system which seems to be disturbed in PD, may also be involved in the pathogenesis of this disorder. ⋯ CSF levels of α-synuclein and UCH-L1 show distinct patterns in parkinsonian syndromes. Their combined determination may be useful in the differential diagnosis of parkinsonian disorders and provide key to understanding their pathoetiology and clinical course. Further large studies are needed to validate our findings.