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      DNA Testing in Neurologic Diseases

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          Abstract

          DNA testing is available for a growing number of hereditary diseases in neurology and other specialties. In addition to guiding breeding decisions, DNA tests are important tools in the diagnosis of diseases, particularly in conditions for which clinical signs are relatively nonspecific. DNA testing also can provide valuable insight into the risk of hereditary disease when decisions about treating comorbidities are being made. Advances in technology and bioinformatics will make broad screening for potential disease‐causing mutations available soon. As DNA tests come into more common use, it is critical that clinicians understand the proper application and interpretation of these test results.

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          The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene.

          L. Lin, J Faraco, R Li … (1999)
          Narcolepsy is a disabling sleep disorder affecting humans and animals. It is characterized by daytime sleepiness, cataplexy, and striking transitions from wakefulness into rapid eye movement (REM) sleep. In this study, we used positional cloning to identify an autosomal recessive mutation responsible for this sleep disorder in a well-established canine model. We have determined that canine narcolepsy is caused by disruption of the hypocretin (orexin) receptor 2 gene (Hcrtr2). This result identifies hypocretins as major sleep-modulating neurotransmitters and opens novel potential therapeutic approaches for narcoleptic patients.
          Article 0 comments Cited 244 times – based on 0 reviews     Review now
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            Nomenclature for the description of human sequence variations.

            Johan T. den Dunnen, Emmanuel Antonarakis (2001)
            A nomenclature system has recently been suggested for the description of changes (mutations and polymorphisms) in DNA and protein sequences. These nomenclature recommendations have now been largely accepted. However, current rules do not yet cover all types of mutations, nor do they cover more complex mutations. This document lists the existing recommendations and summarizes suggestions for the description of additional, more complex changes. Another version of this paper has been published in Hum Mut 15:7-12, 2000.
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              Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis.

              Tomoyuki Awano, Gary S. Johnson, Claire Wade … (2009)
              Canine degenerative myelopathy (DM) is a fatal neurodegenerative disease prevalent in several dog breeds. Typically, the initial progressive upper motor neuron spastic and general proprioceptive ataxia in the pelvic limbs occurs at 8 years of age or older. If euthanasia is delayed, the clinical signs will ascend, causing flaccid tetraparesis and other lower motor neuron signs. DNA samples from 38 DM-affected Pembroke Welsh corgi cases and 17 related clinically normal controls were used for genome-wide association mapping, which produced the strongest associations with markers on CFA31 in a region containing the canine SOD1 gene. SOD1 was considered a regional candidate gene because mutations in human SOD1 can cause amyotrophic lateral sclerosis (ALS), an adult-onset fatal paralytic neurodegenerative disease with both upper and lower motor neuron involvement. The resequencing of SOD1 in normal and affected dogs revealed a G to A transition, resulting in an E40K missense mutation. Homozygosity for the A allele was associated with DM in 5 dog breeds: Pembroke Welsh corgi, Boxer, Rhodesian ridgeback, German Shepherd dog, and Chesapeake Bay retriever. Microscopic examination of spinal cords from affected dogs revealed myelin and axon loss affecting the lateral white matter and neuronal cytoplasmic inclusions that bind anti-superoxide dismutase 1 antibodies. These inclusions are similar to those seen in spinal cord sections from ALS patients with SOD1 mutations. Our findings identify canine DM to be the first recognized spontaneously occurring animal model for ALS.
              Article 0 comments Cited 79 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (nlm-ta): J Vet Intern Med
                Journal ID (iso-abbrev): J. Vet. Intern. Med
                Journal ID (doi): 10.1111/(ISSN)1939-1676
                Journal ID (publisher-id): JVIM
                Title: Journal of Veterinary Internal Medicine
                Publisher: John Wiley and Sons Inc. (Hoboken )
                ISSN (Print): 0891-6640
                ISSN (Electronic): 1939-1676
                Publication date (Electronic): 24 June 2014
                Publication date (Print): Jul-Aug 2014
                Volume: 28
                Issue: 4 ( doiID: 10.1111/jvim.2014.28.issue-4 )
                Pages: 1186-1198
                Affiliations
                [ 1 ] Department Veterinary Medicine and Surgery College of Veterinary MedicineUniversity of Missouri Columbia MO
                [ 2 ] Institute of Genetics Vetsuisse FacultyUniversity of Bern BernSwitzerland
                Author notes
                [*] [* ]Corresponding author: D.P. O'Brien, Comparative Neurology Program, College of Veterinary Medicine, University of Missouri, 900 East Campus Drive, Columbia, MO 65211; e‐mail: obriend@ 123456missouri.edu .
                Article
                Publisher ID: JVIM12383
                DOI: 10.1111/jvim.12383
                PMC ID: 4857950
                PubMed ID: 24962505
                SO-VID: 3008ba55-b71e-41e3-92b2-9dc055d055e7
                Copyright © Copyright © 2014 by the American College of Veterinary Internal Medicine
                History
                Date received : 17 January 2014
                Date revision received : 03 April 2014
                Date accepted : 23 April 2014
                Page count
                Pages: 13
                Categories
                Subject: Invited Review
                Subject: Reviews
                Custom metadata
                source-schema-version-number 2.0
                component-id jvim12383
                cover-date July/August 2014
                details-of-publishers-convertor Converter:WILEY_ML3GV2_TO_NLMPMC version:4.8.8 mode:remove_FC converted:25.04.2016

                ScienceOpen disciplines: Veterinary medicine
                Keywords: genetic mapping,genetic markers,genetics,neurology
                Data availability:
                ScienceOpen disciplines: Veterinary medicine
                Keywords: genetic mapping, genetic markers, genetics, neurology

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