Posts Categorized: Part 28: NEUROGENETICS



New treatments for Angelman syndrome?

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Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons. Huang HS et al. Nature. 2011 Dec 21. Angelman syndrome is a genetic disorder characterized by severe developmental delay, severe speech impairment, gait ataxia and/or tremulousness of the limbs, as well as typical behaviour. It is an imprinting disorder caused by changes in the maternal […]



GFAP mutations, age at onset and clinical subtypes in Alexander disease

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Prust et al, characterized 30 patients with Alexander disease and reviewed 185 previously reported cases in an effort to better determine the disease’s phenotypes and correlations with age at onset and genetic mutation. Based on their results, they propose to revise the Alexander’s disease subtypes from three to only two. Type I is characterized by […]



Lafora disease and mTOR

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Lafora disease, a progressive myoclonus epilepsy, is caused by mutations in Laforin. Now, laforin has been shown to regulate autophagy through the mTOR pathway (Aguado et al., 2010, Am J Hum Genet 19:2867-76). In Lafora disease, it is thought that inhibition of mTOR is decreased and results in impaired autophagy.   Posted by Philippe Campeau […]



Succinate dehydrogenase and leukoencephalopathy

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION, Part 28: NEUROGENETICS, _.

A gene encoding a protein essential for the assembly of succinate dehydrogenase has been implicated in an infantile leukoencephalopathy. Nat Genet. 2009 May 24. [Epub ahead of print] SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Ghezzi D et al. Click this link to see the most recent online […]



Neurotransmitter diseases

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  For recent reviews of inherited neurotransmitter diseases, please see these two recent reviews: Molecular Genetics and Metabolism 92 (2007) 189–197 Neurotransmitter diseases and related conditions Campeau PM, Bernard G, Clayton PT J Child Neurol. 2007 May;22(5):606-16. The pediatric neurotransmitter disorders. Pearl PL, Taylor JL, Trzcinski S, Sokohl A. Thank you very much in advance […]



Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION, Part 28: NEUROGENETICS, Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT, _.

A group led by Orly Elpeleg has identified a gene associated with pontocerebellar hypoplasia, a heterogenous group of conditions. Deleterious Mutation in the Mitochondrial ArginylTransfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia Simon Edvardson, Avraham Shaag, Olga Kolesnikova, John Moshe Gomori, Ivan Tarassov, Tom Einbinder, Ann Saada, and Orly Elpeleg The American Journal of […]



Mitochondrial aspartyl-tRNA synthetase

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Nat Genet. 2007 Apr;39(4):534-9. Epub 2007 Mar 25. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J, Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Krageloh-Mann I, Smeitink JA, Florentz […]



Autism risk loci mapping

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In this paper: Mapping autism risk loci using genetic linkage and chromosomal rearrangements The Autism Genome Project Consortium Nature Genetics Published online Feb 18th 2007 A consortium of investigators mapped regions implicated in autism in the largest cohort of families with autism. They implicated chromosome region 11p12–p13 and neurexins.   Thank you very much in advance […]



Canavan disease and the role of N-acetylaspartate in myelin synthesis

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Canavan disease and the role of N-acetylaspartate in myelin synthesis Namboodiri AM, Peethambaran A, Mathew R, Sambhu PA, Hershfield J, Moffett JR, Madhavarao CN. Mol Cell Endocrinol. 2006 Jun 27;252(1-2):216-23   In this article, the authors give further proof that N-acetylaspartate acts as an acetate carrier from mitochondria to the cytosol, and is thus important […]