Explore chapters and articles related to this topic
Genetic Studies of PTSD and Substance Use Disorders
Published in Anka A. Vujanovic, Sudie E. Back, Posttraumatic Stress and Substance Use Disorders, 2019
Christina M. Sheerin, Leslie A. Brick, Nicole R. Nugent, Ana B. Amstadter
Opioids and stimulants. Relatively fewer GWA studies have been conducted using opioid or stimulant phenotypes (e.g., cocaine, methamphetamine), compared to other licit psychoactive substances, despite evidence for their heritability (see review by Jensen, 2016). Significant effects have been observed for opioid dependence in a sample of 3,627 with genome-wide significance for a SNP in NCK2, an adaptor protein associated with growth factor receptors that may also be associated with nicotine dependence (Liu, Guo, Jiang, & Zhang, 2013). Another GWAS that included a meta-analysis with an independent sample (N = 5,697) identified four regions containing SNPs that passed genome-wide significance, including potassium voltage-gated channel genes KCNG2 and KCNC1, as well as APBB2 and PARVA genes to be associated with opioid dependence symptom count (Gelernter, Kranzler, Sherva, Koesterer, et al., 2014). More recently, a meta-analysis evidenced a difference between opioid-dependent individuals and opioid misusers who never progressed to daily injection for a SNP in CNIH3, associated with the glutamate neurotransmitter system (Nelson et al., 2016; discovery N = 1,328; two replication sets totaling N = 1,309). Finally, one study examining opioid (i.e., heroin) dependence in a sample of 325 methadone-stabilized, former addicts and 250 control participants did not find any variants that reached genome-wide significance (Nielsen et al., 2010).
Hyperkinetic Movement Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Morales-Briceno Hugo, Victor S.C. Fung, Annu Aggarwal, Philip Thompson
Myoclonus, ataxia with relatively preserved cognition: Common causes: Unverricht–Lundborg disease (Baltic myoclonus).Myoclonic epilepsy with ragged red fibers (MERRF).Postanoxic myoclonus.Spinocerebellar degenerations.Uncommon causes: CD.MSA.GM2 gangliosidosis.NCL.DRPLA.North Sea progressive myoclonus epilepsy (GOSR2 mutations).Action myoclonus renal failure syndrome.MEAK syndrome (KCNC1 mutations).SCA14 (PRKCG mutations).POLG mutations.PRICKLE1 mutations.ASAH1 mutations.KCTD7 mutations.LMNB2 mutations.SLC25A46 mutations.
Pharmacotherapeutic management of epilepsy in MERRF syndrome
Published in Expert Opinion on Pharmacotherapy, 2019
Myoclonic epilepsy not only occurs in MERRF patients but also in a number of other conditions. These include progressive myoclonic epilepsies, such as Unverricht-Lundborg disease, Lafora disease, various types of neuronal ceroid lipofuscinoses, or sialidoses type 1 and 2 [75] or progressive myoclonic epilepsy due to mutations in the genes KCNC1, ASAH1, FARS2, CLN8, LMNB2, GOSR2, EPM2A, MTHFR, KCTD7, SCARB2, COL6A2, and CARS2, respectively [75].