Chapter 9 Repeat expansion diseases

Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 147 Author(s): Henry Paulson More than 40 diseases, most of which primarily affect the nervous system, are caused by expansions of simple sequence repeats dispersed throughout the human genome. Expanded trinucleotide repeat diseases were discovered first and remain the most frequent. More recently tetra-, penta-, hexa-, and even dodeca-nucleotide repeat expansions have been identified as the cause of human disease, including some of the most common genetic disorders seen by neurologists. Repeat expansion diseases include both causes of myotonic dystrophy (DM1 and DM2), the most common genetic cause of amyotrophic lateral sclerosis/frontotemporal dementia (C9ORF72), Huntington disease, and eight other polyglutamine disorders, including the most common forms of dominantly inherited ataxia, the most common recessive ataxia (Friedreich ataxia), and the most common heritable mental retardation (fragile X syndrome). Here I review distinctive features of this group of diseases that stem from the unusual, dynamic nature of the underlying mutations. These features include marked clinical heterogeneity and the phenomenon of clinical anticipation. I then discuss the diverse molecular mechanisms driving disease pathogenesis, which vary depending on the repeat sequence, size, and location within the disease gene, and whether the repeat is translated into protein. I conclude with a brief clinical and genetic description ...
Source: Handbook of Clinical Neurology - Category: Neurology Source Type: research

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Publication date: Available online 22 September 2018Source: Social Science &MedicineAuthor(s): Charis Lengen, Christian Timm, Thomas KistemannAbstractThe ability to remember, recognize and reconstruct places is a key component of episodic autobiographical memory. In this respect, place forms an essential basis for the unfolding of experiences in memory and imagination. The autobiographical memory is seen to contribute to a sense of self and place identity.The aim of this study was to concertedly analyze paintings, autobiographical narrations and places of birth and life of clients under treatment at a psychiatric clini...
Source: Social Science and Medicine - Category: Psychiatry & Psychology Source Type: research
Publication date: October 2018Source: Journal of Functional Foods, Volume 49Author(s): F.F. Yan, W.C. Wang, H.W. ChengAbstractThe aim of the study was to assess the effects of dietary supplementation of a Bacillus subtilis based probiotic on broiler bone health. After 43 days, probiotic fed broilers had greater bone mineralization, wall thickness, size, and weight of tibias and femurs compared to the controls. We further found that probiotic fed broilers also had higher serum calcium levels at day 14 and a trend of lower serum c-terminal telopeptide of type I collagen levels, a bone resorption indicator, at day 43. Moreo...
Source: Journal of Functional Foods - Category: Nutrition Source Type: research
DEMENTIA symptoms most commonly affect mental functions and memory loss. However, changes in diet preferences, such as suddenly developing a sweet tooth, could also be a sign of the disease.
Source: Daily Express - Health - Category: Consumer Health News Source Type: news
Publication date: 15 January 2019Source: Journal of Molecular Structure, Volume 1176Author(s): Shargina Beegum, Sheena Mary Y, C. Yohannan Panicker, Stevan Armaković, Sanja J. Armaković, Mustafa Arisoy, Ozlem Temiz-Arpaci, Christian Van AlsenoyAbstractA benzoxazole derivative, 2-(p-methylphenyl)-5-(2-(4-ethylpiperazine-1-yl)acetamido) benzoxazole (PMPEPAB) has been synthesized and investigated for its spectroscopic properties within the framework of density functional theory (DFT) calculations and molecular dynamics (MD) simulations. Potential energy distribution analysis was employed in order to assign and compare compu...
Source: Journal of Molecular Structure - Category: Molecular Biology Source Type: research
Conclusions: MyotonPRO measurements of the BB muscle showed good reproducibility in both healthy subpopulations, particularly for measurements performed within the same day. In individuals with paratonia, reliability and agreement were substantially lower. MyotonPRO can be used in clinical assessment and research. However, in individuals with paratonia, careful interpretation of results is required. Research in a larger sample of persons with paratonia at different stages of disease severity is recommended.
Source: Journal of Geriatric Physical Therapy - Category: Physiotherapy Tags: Research Reports Source Type: research
Authors: Dutta A, Sethi N, Choudhary P, Sood J, Panday BC, Chugh PT Abstract OBJECTIVE: Postoperative nausea and vomiting (PONV) is commonly attributed to opioid analgesics; consequently, perioperative opioid dosage reduction is a common practice. However, inadequate fentanyl analgesia may have adverse implications (sympathetic activation, pain). We conducted this randomized clinical study to analyze whether preinduction fentanyl 3 µg kg-1 administered by different techniques increases incidence of PONV. DESIGN: Randomized-control, prospective, investigator and observer blinded, two-arm, single-center com...
Source: Journal of Opioid Management - Category: Addiction Tags: J Opioid Manag Source Type: research
AFTER years of suffering with mood swings and anxiety, Tracey Lane was finally sent for a scan which revealed a devastating diagnosis. At the age of 51 the former school secretary from Clevedon, Somerset, was diagnosed with frontotemporal dementia .
Source: Daily Express - Health - Category: Consumer Health News Source Type: news
In conclusion, despite decreased palatal blood flow with DEX infusion, local anesthetics with vasoconstrictors should be used in implant and oral surgery even with administered DEX. PMID: 30235427 [PubMed - in process]
Source: Anesthesia Progress - Category: Anesthesiology Tags: Anesth Prog Source Type: research
AbstractAbsence of part or all of the iris, aniridia, is a feature of several genetically distinct conditions. This review focuses on iris development and then the clinical features and molecular genetics of these iris malformations. Classical aniridia, a panocular eye malformation including foveal hypoplasia, is the archetypal phenotype associated with heterozygousPAX6 loss-of-function mutations. Since this was identified in 1991, many genetic mechanisms ofPAX6 inactivation have been elucidated, the commonest alleles being intragenic mutations causing premature stop codons, followed by those causing C-terminal extensions....
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research
Annals of Noninvasive Electrocardiology, EarlyView.
Source: Annals of Noninvasive Electrocardiology - Category: Cardiology Authors: Source Type: research
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