Genetically confirmed clinical Huntington’s disease with no observable cell loss
Huntington’s disease (HD) results from neurodegeneration of the neostriatum. The mutation on chromosome 4 is an expansion in a triplet repeat (CAG)n located within the IT15 gene. Only six patients have been reported with clinical features of HD in association with limited neuropathology. Of these, o...
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Veröffentlicht in: | Journal of neurology, neurosurgery and psychiatry neurosurgery and psychiatry, 2003-07, Vol.74 (7), p.968-970 |
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description | Huntington’s disease (HD) results from neurodegeneration of the neostriatum. The mutation on chromosome 4 is an expansion in a triplet repeat (CAG)n located within the IT15 gene. Only six patients have been reported with clinical features of HD in association with limited neuropathology. Of these, only one has had the diagnosis confirmed by genetic (DNA) testing. We describe a patient with the clinical phenotype and genetically confirmed HD but unexpected limited neuropathology. The patient was seen because of aggressive behaviour and memory problems of two years duration. The differential diagnosis included HD although there was no family history. DNA testing was positive for the HD mutation. Clinical follow up three months later confirmed classic features of HD. Progression of the disease was rapid with death three years later. Neuropathology revealed a largely intact neostriatum with bilateral ischaemic damage and cell loss in the external globus pallidus. Such pathology alone could explain the clinical features of HD. This is only the second report of genetically confirmed clinically manifest HD with little evidence of HD neuropathology. There are several unusual features which could not have been predicted by the clinical picture, in particular the progressive course of bilateral ischaemic changes restricted to the external globus pallidus. The potential to miss other HD cases at post-mortem examination, and the implications of this for family members, are discussed. |
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The mutation on chromosome 4 is an expansion in a triplet repeat (CAG)n located within the IT15 gene. Only six patients have been reported with clinical features of HD in association with limited neuropathology. Of these, only one has had the diagnosis confirmed by genetic (DNA) testing. We describe a patient with the clinical phenotype and genetically confirmed HD but unexpected limited neuropathology. The patient was seen because of aggressive behaviour and memory problems of two years duration. The differential diagnosis included HD although there was no family history. DNA testing was positive for the HD mutation. Clinical follow up three months later confirmed classic features of HD. Progression of the disease was rapid with death three years later. Neuropathology revealed a largely intact neostriatum with bilateral ischaemic damage and cell loss in the external globus pallidus. Such pathology alone could explain the clinical features of HD. This is only the second report of genetically confirmed clinically manifest HD with little evidence of HD neuropathology. There are several unusual features which could not have been predicted by the clinical picture, in particular the progressive course of bilateral ischaemic changes restricted to the external globus pallidus. The potential to miss other HD cases at post-mortem examination, and the implications of this for family members, are discussed.</description><identifier>ISSN: 0022-3050</identifier><identifier>EISSN: 1468-330X</identifier><identifier>DOI: 10.1136/jnnp.74.7.968</identifier><identifier>PMID: 12810795</identifier><identifier>CODEN: JNNPAU</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd</publisher><subject>Aggression ; Alcohol ; Autopsy ; Biological and medical sciences ; Brain Ischemia - pathology ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Dementia ; Deoxyribonucleic acid ; Disease Progression ; DNA ; Eye movements ; Families & family life ; Female ; Genetic aspects ; Genetic research ; Genetic testing ; Genotype & phenotype ; Globus Pallidus - pathology ; Humans ; Huntington Disease - genetics ; Huntington Disease - pathology ; Huntington's chorea ; Huntington’s disease ; Medical sciences ; Memory Disorders - etiology ; Middle Aged ; Mutation ; Neurology ; Neuropathology ; pathology ; Phenotype ; Short Report</subject><ispartof>Journal of neurology, neurosurgery and psychiatry, 2003-07, Vol.74 (7), p.968-970</ispartof><rights>Copyright 2003 Journal of Neurology Neurosurgery and Psychiatry</rights><rights>2003 INIST-CNRS</rights><rights>COPYRIGHT 2003 BMJ Publishing Group Ltd.</rights><rights>Copyright: 2003 Copyright 2003 Journal of Neurology Neurosurgery and Psychiatry</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b589t-76e11fdbc5377608b9eea843b3cc3b9ae51bd19251e7b9bbb36979a72505ffa43</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1738566/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1738566/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14873448$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12810795$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Caramins, M</creatorcontrib><creatorcontrib>Halliday, G</creatorcontrib><creatorcontrib>McCusker, E</creatorcontrib><creatorcontrib>Trent, R J</creatorcontrib><title>Genetically confirmed clinical Huntington’s disease with no observable cell loss</title><title>Journal of neurology, neurosurgery and psychiatry</title><addtitle>J Neurol Neurosurg Psychiatry</addtitle><description>Huntington’s disease (HD) results from neurodegeneration of the neostriatum. The mutation on chromosome 4 is an expansion in a triplet repeat (CAG)n located within the IT15 gene. Only six patients have been reported with clinical features of HD in association with limited neuropathology. Of these, only one has had the diagnosis confirmed by genetic (DNA) testing. We describe a patient with the clinical phenotype and genetically confirmed HD but unexpected limited neuropathology. The patient was seen because of aggressive behaviour and memory problems of two years duration. The differential diagnosis included HD although there was no family history. DNA testing was positive for the HD mutation. Clinical follow up three months later confirmed classic features of HD. Progression of the disease was rapid with death three years later. Neuropathology revealed a largely intact neostriatum with bilateral ischaemic damage and cell loss in the external globus pallidus. Such pathology alone could explain the clinical features of HD. This is only the second report of genetically confirmed clinically manifest HD with little evidence of HD neuropathology. There are several unusual features which could not have been predicted by the clinical picture, in particular the progressive course of bilateral ischaemic changes restricted to the external globus pallidus. The potential to miss other HD cases at post-mortem examination, and the implications of this for family members, are discussed.</description><subject>Aggression</subject><subject>Alcohol</subject><subject>Autopsy</subject><subject>Biological and medical sciences</subject><subject>Brain Ischemia - pathology</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Dementia</subject><subject>Deoxyribonucleic acid</subject><subject>Disease Progression</subject><subject>DNA</subject><subject>Eye movements</subject><subject>Families & family life</subject><subject>Female</subject><subject>Genetic aspects</subject><subject>Genetic research</subject><subject>Genetic testing</subject><subject>Genotype & phenotype</subject><subject>Globus Pallidus - pathology</subject><subject>Humans</subject><subject>Huntington Disease - genetics</subject><subject>Huntington Disease - pathology</subject><subject>Huntington's chorea</subject><subject>Huntington’s disease</subject><subject>Medical sciences</subject><subject>Memory Disorders - etiology</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Neurology</subject><subject>Neuropathology</subject><subject>pathology</subject><subject>Phenotype</subject><subject>Short Report</subject><issn>0022-3050</issn><issn>1468-330X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFkluLEzEUxwdR3Lr66KsMiOLLjMnkOi_CUrSrFJVlvbyFJD3TTZ0mNZmu7ptfw6_nJzFDy1ZlweQhcM4v_3MtiocY1RgT_nzl_aYWtBZ1y-WtYoIplxUh6PPtYoJQ01QEMXRU3EtphcYj27vFEW4kRqJlk-JsBh4GZ3XfX5U2-M7FNSxK2zs_GsvTrR-cXw7B__rxM5ULl0AnKL-54aL0oQwmQbzUpofSQt-XfUjpfnGn032CB_v3uPjw6uX59LSav5u9np7MK8NkO1SCA8bdwlhGhOBImhZAS0oMsZaYVgPDZoHbhmEQpjXGEN6KVouGIdZ1mpLj4sVOd7M1OWcLfoi6V5vo1jpeqaCd-tvj3YVahkuFBZGM8yzwdC8Qw9ctpEGtXRrL0B7CNilBiKSYogw-_gdchW30ubisJTFrmgY3map21FL3oJzvQo5ql7m_OXjw0LlsPsGIUY6wGPn6Bj7fBaydvfHDPoCNuc0RuutaMVLjMqhxGZSgSqi8DJl_9GeDDvR--hl4sgd0ysPuovbWpQNHpSCUykNglwb4fu3X8Yviggim3n6cqrPZez7_NH2jzjP_bMeb9eo_Of4GveXbfQ</recordid><startdate>20030701</startdate><enddate>20030701</enddate><creator>Caramins, M</creator><creator>Halliday, G</creator><creator>McCusker, E</creator><creator>Trent, R J</creator><general>BMJ Publishing Group Ltd</general><general>BMJ</general><general>BMJ Publishing Group LTD</general><general>BMJ Group</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88G</scope><scope>88I</scope><scope>8AF</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB0</scope><scope>M0S</scope><scope>M1P</scope><scope>M2M</scope><scope>M2P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20030701</creationdate><title>Genetically confirmed clinical Huntington’s disease with no observable cell loss</title><author>Caramins, M ; Halliday, G ; McCusker, E ; Trent, R J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b589t-76e11fdbc5377608b9eea843b3cc3b9ae51bd19251e7b9bbb36979a72505ffa43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Aggression</topic><topic>Alcohol</topic><topic>Autopsy</topic><topic>Biological and medical sciences</topic><topic>Brain Ischemia - pathology</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>Dementia</topic><topic>Deoxyribonucleic acid</topic><topic>Disease Progression</topic><topic>DNA</topic><topic>Eye movements</topic><topic>Families & family life</topic><topic>Female</topic><topic>Genetic aspects</topic><topic>Genetic research</topic><topic>Genetic testing</topic><topic>Genotype & phenotype</topic><topic>Globus Pallidus - pathology</topic><topic>Humans</topic><topic>Huntington Disease - genetics</topic><topic>Huntington Disease - pathology</topic><topic>Huntington's chorea</topic><topic>Huntington’s disease</topic><topic>Medical sciences</topic><topic>Memory Disorders - etiology</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Neurology</topic><topic>Neuropathology</topic><topic>pathology</topic><topic>Phenotype</topic><topic>Short Report</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Caramins, M</creatorcontrib><creatorcontrib>Halliday, G</creatorcontrib><creatorcontrib>McCusker, E</creatorcontrib><creatorcontrib>Trent, R J</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Nursing & Allied Health Database</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Psychology Database (Alumni)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Psychology Database</collection><collection>Science Database</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of neurology, neurosurgery and psychiatry</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Caramins, M</au><au>Halliday, G</au><au>McCusker, E</au><au>Trent, R J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetically confirmed clinical Huntington’s disease with no observable cell loss</atitle><jtitle>Journal of neurology, neurosurgery and psychiatry</jtitle><addtitle>J Neurol Neurosurg Psychiatry</addtitle><date>2003-07-01</date><risdate>2003</risdate><volume>74</volume><issue>7</issue><spage>968</spage><epage>970</epage><pages>968-970</pages><issn>0022-3050</issn><eissn>1468-330X</eissn><coden>JNNPAU</coden><abstract>Huntington’s disease (HD) results from neurodegeneration of the neostriatum. The mutation on chromosome 4 is an expansion in a triplet repeat (CAG)n located within the IT15 gene. Only six patients have been reported with clinical features of HD in association with limited neuropathology. Of these, only one has had the diagnosis confirmed by genetic (DNA) testing. We describe a patient with the clinical phenotype and genetically confirmed HD but unexpected limited neuropathology. The patient was seen because of aggressive behaviour and memory problems of two years duration. The differential diagnosis included HD although there was no family history. DNA testing was positive for the HD mutation. Clinical follow up three months later confirmed classic features of HD. Progression of the disease was rapid with death three years later. Neuropathology revealed a largely intact neostriatum with bilateral ischaemic damage and cell loss in the external globus pallidus. Such pathology alone could explain the clinical features of HD. This is only the second report of genetically confirmed clinically manifest HD with little evidence of HD neuropathology. There are several unusual features which could not have been predicted by the clinical picture, in particular the progressive course of bilateral ischaemic changes restricted to the external globus pallidus. The potential to miss other HD cases at post-mortem examination, and the implications of this for family members, are discussed.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd</pub><pmid>12810795</pmid><doi>10.1136/jnnp.74.7.968</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Aggression Alcohol Autopsy Biological and medical sciences Brain Ischemia - pathology Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Dementia Deoxyribonucleic acid Disease Progression DNA Eye movements Families & family life Female Genetic aspects Genetic research Genetic testing Genotype & phenotype Globus Pallidus - pathology Humans Huntington Disease - genetics Huntington Disease - pathology Huntington's chorea Huntington’s disease Medical sciences Memory Disorders - etiology Middle Aged Mutation Neurology Neuropathology pathology Phenotype Short Report |
title | Genetically confirmed clinical Huntington’s disease with no observable cell loss |
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