Genetics Home Reference: ADCY5-related dyskinesia

Source: NLM General Announcements - Category: Databases & Libraries Source Type: news

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Abbott has announced that the FDA has given the company the first ever approval for a device to treat Parkinson’s by delivering deep brain stimulation (DBS) to the internal globus pallidus (GPi), an area associated with motor function. The Infi...
Source: Medgadget - Category: Medical Devices Authors: Tags: Neurology Neurosurgery Source Type: blogs
CONCLUSIONS: Valbenazine and deutetrabenazine were demonstrated to be effective in decreasing AIMS scores and were well tolerated in randomized controlled trials. These treatments may be considered as a next-line option when traditional strategies are not feasible or are ineffective. Head-to-head studies are warranted to decipher if either agent is preferable in terms of efficacy or tolerability. PMID: 31974564 [PubMed - in process]
Source: American Journal of Health-System Pharmacy : AJHP - Category: Drugs & Pharmacology Authors: Tags: Am J Health Syst Pharm Source Type: research
This study aims to investigate the topological organization of functional networks in drug-naive PKD.
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Source Type: research
Abstract As a consequence of contracted and fenced grassland, the incidence of edema pathema in the Hequ horse is rising. The main pathological symptoms are edema, emaciation, anemia, heterophilia, inappetence, and dyskinesia. To study the cause of edema disease in Hequ horse, the Hequ horse farm with a high incidence was chosen as the experimental pasture, and the Azi husbandry experimental station without edema disorder was the control pasture. The research methods in this paper are included: (1) The mineral contents in soil, forage, blood, and liver were analyzed. (2) Routine parameters and biochemical values i...
Source: Biological Trace Element Research - Category: Biology Authors: Tags: Biol Trace Elem Res Source Type: research
This letter to the editor acknowledges the contribution of Akbar et al. to the field of tardive dyskinesia (TD) and provides important regulatory information about the potential for parkinson-like symptoms in patients with TD who are treated with valbenazine.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Correspondence Source Type: research
Conclusions: LID is fairly common in PD though not severely disabling. Patients with younger age of onset, longer disease duration, and severe disease were more likely to get early LID. We observed the lower prevalence of LID when initiating at lower doses and slow titration of levodopa.
Source: Annals of Indian Academy of Neurology - Category: Neurology Authors: Source Type: research
ConclusionThe deletion ofDRC1 is the major cause of PCD in Japan and this alteration can cause various ciliary ultrastructural abnormalities.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Authors: Saklad SR Abstract Tardive dyskinesia (TD) is an involuntary movement disorder induced by dopamine-receptor blocking agents (DRBAs), including antipsychotics. Because the introduction of second-generation antipsychotics has reduced but not eliminated the risk for TD as had been hoped, recognizing and treating TD are important skills for clinicians. Many patients rely on DRBAs for chronic conditions. To minimize the risk of patients' involuntary movements becoming permanent, they must be detected early and treated. To improve the early recognition and diagnosis of TD, clinicians must know the risk factors, ...
Source: Journal of Clinical Psychiatry - Category: Psychiatry Tags: J Clin Psychiatry Source Type: research
Similar to patients with cystic fibrosis (CF) and non-CF bronchiectasis, patients with primary ciliary dyskinesia (PCD) are prone to recurrent or chronic lung infections with Pseudomonas aeruginosa. Chronic P. aeruginosa lung infection has a prevalence of up to 39% in patients with PCD [1] and is associated with structural damage, affecting lung function. Treatment of P. aeruginosa infection is challenging because P. aeruginosa adapts to the host environment through genotypic/phenotypic changes, promoting a reduced immune response [2].
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Original Articles: Research letters Source Type: research
AbstractSevere asthenozoospermia is a common cause of male infertility. Recent studies have revealed thatSPEF2 mutations lead to multiple morphological abnormalities of the sperm flagella (MMAF) without primary ciliary dyskinesia (PCD) symptoms in males, but PCD phenotype was also found in one female individual. Therefore, whether there is a phenotypic continuum ranging from infertile patients with PCD to MMAF patients with no or low noise PCD manifestations remains elusive. Here, we performed whole-exome sequencing in 47 patients with severe asthenozoospermia from 45 unrelated Chinese families. We identified four novel bi...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research
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