Anoctamins (TMEM16 proteins): Functions and involvement in neurologic disease

Anoctamins (anion channels with 8 transmembrane domains [ANO]), also known as transmembrane proteins with 16 domains (TMEM16), are highly conserved intracellular calcium (Ca2+)–activated proteins with multiple cellular functions. The ANO/TMEM16 family includes 10 members (ANO1/TMEM16A to ANO10/TMEM16K), with distinct distributions in tissues. Some of these proteins, such as ANO1 and ANO2, are prototypical Ca2+-activated chloride (Cl–) channels. Others, including ANO6, mediate Ca2+-dependent exposure of phospholipids that are normally expressed in the inner leaflet of the membrane to the extracellular surface; this process is called phospholipid scrambling or scramblase activity. Anoctamins are involved in regulation of neuronal cell excitability, epithelial secretion, smooth muscle contraction, repair of skeletal muscle membrane, and tumorigenesis. The structure, mechanism of activation, and functions of anoctamins have been reviewed recently.1–6 Anoctamins contribute to heat-induced pain7,8 and modulate excitability in neurons in the dorsal root ganglia (DRG),9 hippocampus,10 and cerebellum.11 Mutations affecting different anoctamins have been linked to several neurologic disorders, including muscle disease,12–15 cerebellar ataxia,16–18 and dystonia.19,20 Thus, anoctamins constitute a potential therapeutic target in a wide range of neurologic disorders.
Source: Neurology - Category: Neurology Authors: Tags: CLINICAL IMPLICATIONS OF NEUROSCIENCE RESEARCH Source Type: research

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Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Susan Perlman, Eugen Boltshauser There are no approved disease-modifying therapies for any of the inherited cerebellar ataxias. Drug treatment in childhood ataxia is still very limited. Effective treatments are available for only a few rare metabolic hereditary disorders. Symptomatic management of associated tremor, spasticity, dystonia, or chorea can follow the medication recommendations in general usage. The foundation of management of cerebellar ataxia in adults or children remains rehabilitation.
Source: Handbook of Clinical Neurology - Category: Neurology Source Type: research
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Roberta Ferrucci, Alberto Priori The cerebellum plays a fundamental role in movement execution and motor control in humans. Because of multiple cerebellar connections and a broad variety of motor and nonmotor functions, the field of cerebellar stimulation with noninvasive techniques has gained success among researchers in the last few years. These techniques allow investigation of the neural network noninvasively, collecting more information on cerebellar physiology and pathophysiology. Several studies have highlighted the therapeutic pote...
Source: Handbook of Clinical Neurology - Category: Neurology Source Type: research
Since the seminal report of Lord Brain et al., in 1966 [1], neurologic manifestations of Hashimoto's thyroiditis (HT) have been increasingly recognized, and it is now evident that clinical features are diverse and that the response to steroids is variable [2 –5]. The term “steroid-responsive encephalopathy associated with autoimmune thyroiditis” (SREAT) has been proposed, however, signs of encephalopathy with altered mental state may be absent, as may clinical response to steroids. With respect to movement disorders, these are reported most often in the setting of encephalopathy; myoclonus is the commones...
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Correspondence Source Type: research
Neuropediatrics DOI: 10.1055/s-0038-1653978Mutations in the ATP1A3 gene are known to cause alternating hemiplegia of childhood (AHC) and rapid-onset dystonia parkinsonism (RDP). Both conditions are childhood-onset neurological disorders with distinct symptoms and different times of onset. ATP1A3 has also been associated with CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss). Within the various ATP1A3-related neurological syndromes, a specific genotype–phenotype correlation is starting to emerge. Several mutations such as the relatively common p.E815K pathogenic va...
Source: Neuropediatrics - Category: Neurology Authors: Tags: Short Communication Source Type: research
CONCLUSIONS: At present, there is insufficient evidence regarding the effectiveness of trihexyphenidyl for people with cerebral palsy for the outcomes of: change in dystonia, adverse effects, increased upper limb function and improved participation in activities of daily living. The study did not measure pain or quality of life. There is a need for larger randomised, controlled, multicentre trials that also examine the effect on pain and quality of life in order to determine the effectiveness of trihexyphenidyl for people with cerebral palsy. PMID: 29763510 [PubMed - as supplied by publisher]
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
Human motor control is a highly complex process that requires extraordinary precision to achieve optimal speed and accuracy of each movement. The dysfunction of the motor control system leads to a variety of movement disorders such as parkinsonism, dystonia, and ataxia. How the nervous system governs the movements in both physiological and pathological conditions in real time remains unclear, partly due to the rather complex nature of movements and the corresponding neurophysiology. Tremor is a type of movement with enriched information (phase, frequency, and amplitude) that can be tracked in real time to correlate with os...
Source: Clinical Neurophysiology - Category: Neuroscience Authors: Tags: Editorial Source Type: research
Movement Disorders, EarlyView.
Source: Movement Disorders - Category: Neurology Authors: Source Type: research
Conclusion: Movement disorders are present in about 43% of patients with SCA and can precede or succeed the onset of ataxia. Tremor onset SCA predicted SCA-12, especially in Agrawal community.
Source: Annals of Indian Academy of Neurology - Category: Neurology Authors: Source Type: research
Publication date: April 2018 Source:The Lancet Neurology, Volume 17, Issue 4 Author(s): Alhassane Diallo, Heike Jacobi, Arron Cook, Robyn Labrum, Alexandra Durr, Alexis Brice, Perrine Charles, Cecilia Marelli, Caterina Mariotti, Lorenzo Nanetti, Marta Panzeri, Maria Rakowicz, Anna Sobanska, Anna Sulek, Tanja Schmitz-Hübsch, Ludger Schöls, Holger Hengel, Bela Melegh, Alessandro Filla, Antonella Antenora, Jon Infante, José Berciano, Bart P van de Warrenburg, Dagmar Timmann, Sylvia Boesch, Massimo Pandolfo, Jörg B Schulz, Peter Bauer, Paola Giunti, Jun-Suk Kang, Thomas Klockgether, Sophie Tezenas du Mon...
Source: The Lancet Neurology - Category: Neurology Source Type: research
Date: Tuesday, 03 20, 2018; Speaker: James Park, NINDS; Richard O' Brien, Duke University School of Medicine; Building: Building 10 (Clinical Center); Lipsett Auditorium ; CME Credit
Source: NIH Calendar of Events - Category: American Health Source Type: events
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