Medtronic Neuromodulation - Activa Dystonia Therapy Kit - Class 1 Recall
Medtronic DBS Therapy for Dystonia Kit, models 3317, 3319, 3337 and 3339. Sterile and Non-Pyrogenic. Product Usage: Dystonia Therapy Kit is indicated for unilateral or bilateral stimulation of the internal globus pallidus (GPi) or the subthalamic nucleus (STN) to aid in the management of chronic, intractable (drug refractory) primary dystonia, including generalized and/or segmental dystonia, hemidystonia, and cervical dystonia (torticollis).
Journal of Clinical Sleep Medicine, Ahead of Print.
Publication date: Available online 2 April 2020Source: Journal of Clinical NeuroscienceAuthor(s): Kyung Ah Woo, Han-Joon Kim, Dallah Yoo, Ji-Hyun Choi, Junghwan Shin, Sangmin Park, Ryul Kim, Beomseok Jeon
Ataxia-telangiectasia-like disorder (ATLD) is an autosomal recessive, very rare genetic disease causing ataxia, oculomotor apraxia and slow deterioration in cognition (Palmeri et al 2013; Fernet et al 2005). Magnetic resonance imaging shows cerebellar atrophy (Palmeri et al 2013; Uchisaka et al, 2009). The risk of developing cancer is low compared to ataxia-telangiectasia (AT), however, cases with lung adenocarcinoma were reported (Uchisaka et al, 2009). As far as we know, there is no levodopa trial in the presented ATLD cases whereas levodopa responsive dystonia was described in ataxia telangiectasia (AT) [3,4].
Conclusion: In patients with CD there were no indications that driving performance or driving safety were significant different from healthy controls in a simulator. Patients reported higher levels of fatigue both before and after driving compared to controls in accordance with the non-motor symptoms known in CD.
Exp Clin Endocrinol Diabetes DOI: 10.1055/a-1108-1456Despite its first description more than 75 years ago, effective treatment for “Allan-Herndon-Dudley-Syndrome (AHDS)”, an X-linked thyroid hormone transporter defect, is unavailable. Mutations in the SLC16A2 gene have been discovered to be causative for AHDS in 2004, but a comprehensive understanding of the function of the encoded protein, monocarboxylate transporter 8 (MCT8), is incomplete. Patients with AHDS suffer from neurodevelopmental delay, as well as extrapyramidal (dystonia, chorea, athetosis), pyramidal (spasticity), and cerebellar symptoms (ataxia)....
Tardive dystonia associated with antidepressant use is rare and often under-recognized. We had an experience with trazodone, which is used for delirium and insomnia prescribed in general hospital, inducing tar...
n P Abstract DYT-TOR1A is the most common inherited dystonia caused by a three nucleotide (GAG) deletion (dE) in the TOR1A gene. Death early after birth and cortical anomalies of the full knockout in rodents underscore its developmental importance. We therefore explored the timed effects of TOR1A-wt and TOR1A-dE during differentiation in a human neural in vitro model. We used lentiviral tet-ON expression of TOR1A-wt and -dE in induced neural stem cells derived from healthy donors. Overexpression was induced during proliferation of neural precursors, during differentiation and after differentiation into mature neur...
We read with great interest the recent article entitled “Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: evidence of symptomatic enzyme deficiency?” written by Bally et al.  and would like to comment on this interesting study. The authors found a pathogenic variant (c.296del [p.Leu99Argfs*15]) and a variant of uncertain significance (c.1169C>T [p.Ser390Leu]) in the tyrosine hydroxylase gene (TH), which were confirmed to be present on the same allele, in an adult-onset patient with dopa-responsive dystonia (DRD).
Autosomal dominant GCH1 mutations are known to cause dopa-responsive dystonia (DRD). In this case series, we confirm a variant phenotype, characterized by predominant spastic paraplegia at disease onset with development of dystonia and/or parkinsonism only decades later.
CONCLUSIONS: TorsinA with S287Y damages the structure of the cell nucleus and may be a novel pathogenic mutation that causes isolated dystonia. PMID: 32243914 [PubMed - as supplied by publisher]