Parkinsonism & related disorders
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Parkinsonism Relat. Disord. · Oct 2019
Cerebello-striatal interaction mediates effects of subthalamic nucleus deep brain stimulation in Parkinson's disease.
In Parkinson's disease (PD), dopamine replacement therapy (DRT) enhances the effective connectivity of the prefrontal cortex (PFC) and supplementary motor area (SMA). The clinical effects of deep brain stimulation (DBS) of the subthalamic nucleus (STN) go beyond DRT effects including highly beneficial tremor suppression. ⋯ DBS-related improvement of Parkinsonian signs appears to be driven by an interaction between the cerebellum and the putamen. Resting tremor suppression may be related to an enhanced prefronto-cerebellar network. Activation of the mesial premotor loop (PFC-SMA) as seen in DRT may thus be secondary due to the primary modulation of cerebellar networks.
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Parkinsonism Relat. Disord. · Sep 2019
Multicenter StudyLow prevalence of known pathogenic mutations in dominant PD genes: A Swedish multicenter study.
To determine the frequency of mutations known to cause autosomal dominant Parkinson disease (PD) in a series with more than 10% of Sweden's estimated number of PD patients. ⋯ In relative terms, the LRRK2 p.(Gly2019Ser) variant is the most frequent mutation among Swedish or international PD patients, and in gnomAD. SNCA duplications were the second most common of the mutations examined. In absolute terms, however, these known pathogenic variants in dominant PD genes are generally very rare and can only explain a minute fraction of familial aggregation of PD. Additional genetic and environmental mechanisms may explain the frequent co-occurrence of PD in close relatives.
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Parkinsonism Relat. Disord. · Sep 2019
Extensive cerebellar and thalamic degeneration in spinocerebellar ataxia type 10.
Spinocerebellar ataxia type 10 (SCA10) is a hereditary neurodegenerative disorder caused by repeat expansions in the ATXN10 gene. Patients present with cerebellar ataxia frequently accompanied by seizures. Even though loss of cerebellar Purkinje neurons has been described, its brain degeneration pattern is unknown. Our aim was to characterize the gray and white matter degeneration patterns in SCA10 patients and the association with clinical features. ⋯ The results show that besides cerebellum and brainstem, brain degeneration in SCA10 includes predominantly the putamen and thalamus; involvement of the latter is strongly associated with seizures. Analysis of the unbiased degeneration pattern in the cerebellum suggests lobules VIIIb, IX, and X as the primary cerebellar targets of the disease, which expands to the anterior lobe in later stages.
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Parkinsonism Relat. Disord. · Aug 2019
Intraoperative test stimulation of the subthalamic nucleus aids postoperative programming of chronic stimulation settings in Parkinson's disease.
It is unknown whether intraoperative testing during awake Deep Brain Stimulation (DBS) of the subthalamic nucleus (STN) can be used to postoperatively identify the best settings for chronic stimulation. ⋯ In the majority of cases, the postoperative contact for chronic stimulation was at a similar level or immediately dorsal with respect to the identified best intraoperative depth. Postoperatively, relief of rigidity and induction of capsular side-effects occur at higher stimulation intensities than during intraoperative test stimulation.
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Parkinsonism Relat. Disord. · Jun 2019
Randomized Controlled TrialA randomized study of botulinum toxin versus botulinum toxin plus physical therapy for treatment of cervical dystonia.
Physical therapy (PT) for cervical dystonia is not well studied, and the underlying physiological effects are not known. ⋯ PT is a potential adjunct in patients with cervical dystonia who report suboptimal benefits with BoNT therapy. PT related benefits in cervical dystonia are likely mediated through modulation of sensorimotor plasticity.