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Amyotrophic Lateral Sclerosis in a Patient with a Family History of Huntington Disease: Genetic Counseling Challenges
dc.contributor.authorSmith, Andrea L.
dc.contributor.authorTeener, James W.
dc.contributor.authorCallaghan, Brian C.
dc.contributor.authorHarrington, Jack
dc.contributor.authorUhlmann, Wendy R.
dc.date.accessioned2019-01-15T20:29:14Z
dc.date.available2019-01-15T20:29:14Z
dc.date.issued2014-10
dc.identifier.citationSmith, Andrea L.; Teener, James W.; Callaghan, Brian C.; Harrington, Jack; Uhlmann, Wendy R. (2014). "Amyotrophic Lateral Sclerosis in a Patient with a Family History of Huntington Disease: Genetic Counseling Challenges." Journal of Genetic Counseling 23(5): 725-733.
dc.identifier.issn1059-7700
dc.identifier.issn1573-3599
dc.identifier.urihttps://hdl.handle.net/2027.42/147074
dc.description.abstractAmyotrophic lateral sclerosis (ALS) and Huntington disease (HD) are generally considered to be distinct and easily differentiated neurologic conditions. However, there are case reports of the co‐occurrence of ALS with HD. We present a 57‐year‐old male with a clinical diagnosis of sporadic ALS in the context of a family history of HD. This case adds to the limited literature regarding individuals with a family history of HD who present with features of ALS. There were several genetic counseling challenges in counseling this patient including the diagnostic consideration of two fatal conditions, complex risk information, the personal and familial implications, and the patient’s inability to communicate verbally or through writing due to disease progression. DNA banking effectively preserved the right of our patient and his wife not to learn his HD genetic status during a stressful time of disease progression while providing the option for family members to learn this information in the future if desired. We present lessons learned and considerations for other clinical genetics professionals who are presented with similar challenging issues.
dc.publisherSpringer US
dc.publisherWiley Periodicals, Inc.
dc.subject.otherGenetic counseling
dc.subject.otherHuntington disease (HD)
dc.subject.otherAmyotrophic lateral sclerosis (ALS)
dc.titleAmyotrophic Lateral Sclerosis in a Patient with a Family History of Huntington Disease: Genetic Counseling Challenges
dc.typeArticleen_US
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelHuman Genetics
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/147074/1/jgc40725.pdf
dc.identifier.doi10.1007/s10897-014-9715-6
dc.identifier.sourceJournal of Genetic Counseling
dc.identifier.citedreferenceRoos, R. A. ( 2010 ). Huntington’s disease: a clinical review. Orphanet Journal of Rare Diseases, 5 ( 1 ), 40.
dc.identifier.citedreferencePanse, F., ed. ( 1942 ). Die Erbchorea. Leipzig. G. Theime, ed. Eineklinisch‐genetische Studie.
dc.identifier.citedreferencePapageorgiou, S. G., Antell, A., Bonakis, A., et al. ( 2006 ). Association of genetically proven Huntington’s disease and sporadic amyotrophic lateral sclerosis in a 72‐year‐old woman. Journal of Neurology, 253 ( 12 ), 1649 – 1650.
dc.identifier.citedreferencePhukan, J., Ali, E., Pende, N. P., et al. ( 2010 ). Huntington’s disease presenting as amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis, 11 ( 4 ), 405 – 407.
dc.identifier.citedreferencePringsheim, T., Wiltshire, K., Day, L., Dykeman, J., Steeves, T., & Jette, N. ( 2012 ). The incidence and prevalence of Huntington’s disease: a systematic review and meta‐analysis. Movement Disorders, 27 ( 9 ), 1083 – 1091.
dc.identifier.citedreferenceQuaid, K. A., & Morris, M. ( 1993 ). Reluctance to undergo predictive testing: the case of Huntington disease. American Journal of Medical Genetics, 45 ( 1 ), 41 – 45.
dc.identifier.citedreferenceQuaid, K. A., Swenson, M. M., Sims, S. L., Harrison, J. M., Moskowitz, C., Stepanov, N., etal. ( 2010 ). What were you thinking?: Individuals at risk for Huntington disease talk about having children. Journal of Genetic Counseling, 19, 606 – 617.
dc.identifier.citedreferenceRenton, A. E., Majounie, E., et al. ( 2011 ). A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21‐linked ALS‐FTD. Neuron, 72 ( 2 ), 257 – 268.
dc.identifier.citedreferenceRubio, K. S., Figlewicz, D. A., Greenamyre, T., Shoulson, I., Hamill, R., & Powers, J. ( 1995 ). Amyotrophy and Huntington’s disease. Journal of Neuropathology and Experimental Neurology, 54 ( 3 ), 443.
dc.identifier.citedreferenceRubio, A., Steinberg, K., Figlewicz, D. A., et al. ( 1996 ). Coexistence of Huntington’s disease and familial amyotrophic lateral sclerosis: case presentation. Acta Neuropathologica, 92 ( 4 ), 421 – 427.
dc.identifier.citedreferenceSadeghian, H., O’Suilleabhain, P. E., Battiste, J., Elliott, J. L., & Trivedi, J. R. ( 2011 ). Huntington chorea presenting with motor neuron disease. Archives of Neurology, 68 ( 5 ), 650 – 652.
dc.identifier.citedreferenceSavettieri, G., Salemi, G., Arcara, A., Cassata, M., Castiglione, M. G., & Fierro, B. ( 1991 ). A case‐control study of amyotrophic lateral sclerosis. Neuroepidemiology 10 ( 5–6 ), 242 – 245.
dc.identifier.citedreferenceShaw, C. E., Enayat, Z. E., et al. ( 1998 ). Mutations in all five exons of SOD‐1 may cause ALS. Annals of Neurology, 43 ( 3 ), 390 – 394.
dc.identifier.citedreferenceSkirton, H., Goldsmith, L., Jackson, L., & Tibben, A. ( 2013 ). Quality in genetic counselling for presymptomatic testing ‐ clinical guidelines for practice across the range of genetic conditions. European Journal of Human Genetics, 21 ( 3 ), 256 – 260.
dc.identifier.citedreferenceSmith, J. A., Stephenson, M., Jacobs C., & Quarrell, O. ( 2013 ). Doing the right thing for one’s children: deciding whether to take the genetic test for Huntington’s disease as a moral dilemma. Clinical Genetics, 83, 417 – 421.
dc.identifier.citedreferenceSreedharan, J., Blair, I. P., et al. ( 2008 ). TDP‐43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science, 319 ( 5870 ), 1668 – 1672.
dc.identifier.citedreferenceTada, M., Coon, E. A., Osmand, A. P., et al. ( 2012 ). Coexistence of Huntington’s disease and amyotrophic lateral sclerosis: a clinico‐ pathologic study. Acta Neuropathologica, 124 ( 5 ), 749 – 760.
dc.identifier.citedreferenceTesta, D., Lovati, R., Ferrarini, M., Salmoiraghi, F., & Filippini, G. ( 2004 ). Survival of 793 patients with amyotrophic lateral sclerosis diagnosed over a 28‐year period. Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, 5 ( 4 ), 208 – 212.
dc.identifier.citedreferenceThe Huntington’s Disease Collaborative Research Group. ( 1993 ). A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell, 72 ( 6 ), 971 – 983.
dc.identifier.citedreferenceTraynor, B. J., Codd, M. B., Corr, B., Forde, C., Frost, E., & Hardiman, O. ( 1999 ). Incidence and prevalence of ALS in Ireland, 1995–1997: a population‐based study. Neurology, 52 ( 3 ), 504 – 509.
dc.identifier.citedreferenceUhlmann, W., Schuette, J., & Yashar, B. (Eds.). ( 2009 ). A guide to genetic counseling ( 2nd ed. ). Hoboken: John Wiley & Sons.
dc.identifier.citedreferenceWalker, F. O. ( 2007 ). Huntington’s disease. Lancet, 369 ( 9557 ), 218 – 228.
dc.identifier.citedreferenceArmon, C., Kurland, L. T., Daube, J. R., & O’Brien, P. C. ( 1991 ). Epidemiologic correlates of sporadic amyotrophic lateral sclerosis. Neurology, 41 ( 7 ), 1077 – 1084.
dc.identifier.citedreferenceBall, L., Beukelman, D., & Pattee, G. ( 2004 ). Augmentative and alternative communication acceptance by persons with amyotrophic lateral sclerosis. Augmentative and Alternative Communication, 20, 113 – 123.
dc.identifier.citedreferenceBates, G., Harper, P., & Jones, L. ( 2002 ). Huntington’s disease. New York: Oxford University Press.
dc.identifier.citedreferenceBlin, O., Samuel, D., Guieu, R., Pouget, J., Nieoullon, A., & Serratrice, G. ( 1992 ). Familial amyotrophic lateral sclerosis associated with Huntington chorea with increased aspartate level in the cerebrospinal fluid. Revue Neurologique (Paris), 148 ( 2 ), 144 – 146.
dc.identifier.citedreferenceBloch, M., Fahy, M., Fox, S., & Hayden, M. R. ( 1989 ). Predictive testing for Huntington disease: II. Demographic characteristics, life‐style patterns, attitudes, and psychosocial assessments of the first 51 test candidates. American Journal of Medical Genetics, 32, 217 – 224.
dc.identifier.citedreferenceBrooks, B. R. ( 1994 ). El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial “Clinical limits of amyotrophic lateral sclerosis” workshop contributors. Journal of Neurological Sciences, 124 ( Suppl ), 96 – 107.
dc.identifier.citedreferenceChettri, S.K., Dayanandan, R., Bindman, D., Crauford, D., Majeed, T. ( 2013 ). Amyotrophic lateral sclerosis and Huntington’s disease: Neurodegenerative link or coincidence? Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. Ahead of Print: Pages 1 – 3.
dc.identifier.citedreferenceCraufurd, D., Dodge, A., Kerzin‐Storrar, L., & Harris, R. ( 1989 ). Uptake of presymptomatic predictive testing for Huntington’s disease. Lancet, 2 ( 8663 ), 603 – 605.
dc.identifier.citedreferenceDeJesus‐Hernandez, M., Mackenzie, I. R., et al. ( 2011 ). Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p‐linked FTD and ALS. Neuron, 72 ( 2 ), 245 – 256.
dc.identifier.citedreferenceDeng, H. X., Chen, W., et al. ( 2011 ). Mutations in UBQLN2 cause dominant X‐linked juvenile and adult‐onset ALS and ALS/ dementia. Nature, 477 ( 7363 ), 211 – 215.
dc.identifier.citedreferenceDufrasne, S., Roy, M., Galvez, M., & Rosenblatt, D. S. ( 2011 ). Experience over 15 years with a protocol for predictive testing for Huntington’s disease. Molecular Genetics and Metabolism, 102, 494 – 504.
dc.identifier.citedreferenceEvers‐Kiebooms, G., Swerts, A., Cassiman, J. J., & Van Den Berghe, H. ( 1989 ). The motivation of at‐risk individuals and their partners in deciding for or against predictive testing for Huntington’s disease. Clinical Genetics, 35, 29 – 40.
dc.identifier.citedreferenceEvers‐Kiebooms, G., Nys, K., Harper, P., Zoeteweij, M., Durr, A., Jacopini, G., et al. ( 2002 ). Predictive DNA testing for Huntington’s disease and reproductive decision making: a European collaborative study. European Journal of Human Genetics, 10, 167 – 176.
dc.identifier.citedreferenceForrest Keenan, K., van Teijlingen, E., McKee, L., Miedzybrodzka, Z., & Simpson, S. A. ( 2009 ). How young people find out about their family history of Huntington’s disease. Social Science & Medicine, 68, 1892 – 1900.
dc.identifier.citedreferenceForrest, K., Simpson, S. A., Wilson, B. J., van Teijlingen, E. R., McKee, L., Haites, N., et al. ( 2003 ). Clinical Genetics, 64, 317 – 326.
dc.identifier.citedreferenceFrank, G., & Vuia, O. ( 1973 ). Huntington’s chorea‐amyotrophic lateral sclerosis‐spastic spinal paralysis. Association of systemic diseases (author’s transl). Zeitschriftfür Neurologie, 205 ( 3 ), 207 – 220.
dc.identifier.citedreferenceGasbarrini, A., ed. ( 1964 ). Amyotrophische Lateralsklerose. Stuttgart: Fischer. WFH, ed.
dc.identifier.citedreferenceGreenway, M. J., Andersen, P. M., et al. ( 2006 ). ANG mutations segregate with familial and ‘sporadic’ amyotrophic lateral sclerosis. Nature Genetics, 38 ( 4 ), 411 – 413.
dc.identifier.citedreferenceGuimaraes, L., Sequeiros, J., Skirton, H., & Paneque, M. ( 2013 ). What counts as effective genetic counselling forpresymptomatic testing in late‐onset disorders? a study of the Consultand’s perspective. Journal of Genetic Counseling, 22 ( 4 ), 437 – 447.
dc.identifier.citedreferenceHarper, P. S., & Newcombe, R. G. ( 1992 ). Age at onset and life table risks in genetic counselling for Huntington’s disease. Journal of Medical Genetics, 29, 239 – 242.
dc.identifier.citedreferenceHolt, K. ( 2006 ). What do we tell the children? Contrasting the choices of two HD families regarding risk status and predictive genetic testing. Journal of Genetic Counseling, 15 ( 4 ), 253 – 265.
dc.identifier.citedreferenceInternational Huntington Association (IHA) and the World Federation of Neurology (WFN) Research Group on Huntington’s Chorea. ( 1994 ). Guidelines for the molecular genetics predictive test in Huntington’s disease. Neurology, 44 ( 8 ), 1533 – 1536.
dc.identifier.citedreferenceJuneja, T., Pericak‐Vance, M. A., Laing, N. G., Dave, S., & Siddique, T. ( 1997 ). Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu, Zn superoxide dismutase. Neurology, 48 ( 1 ), 55 – 57.
dc.identifier.citedreferenceKanai, K., Kuwabara, S., Sawai, S., et al. ( 2008 ). Genetically confirmed Huntington’s disease masquerading as motor neuron disease. Movement Disorders, 23 ( 5 ), 748 – 751.
dc.identifier.citedreferenceKlitzman, R., Thorne, D., Williamson, J., Chung, W., & Marder, K. ( 2007 ). Decision‐making about reproductive choices among individuals at‐risk for Huntington’s disease. Journal of Genetic Counseling, 16 ( 3 ), 347 – 362.
dc.identifier.citedreferenceKondo, K., & Tsubaki, T. ( 1981 ). Case‐control studies of motor neuron disease: association with mechanical injuries. Archives of Neurology, 38 ( 4 ), 220 – 226.
dc.identifier.citedreferenceKwiatkowski, T. J. Jr., Bosco, D. A., et al. ( 2009 ). Mutations in the FUS/ TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science, 323 ( 5918 ), 1205 – 1208.
dc.identifier.citedreferenceMacLeod, R., Tibben, A., Frontali, M., et al. ( 2013 ). Recommendations for the predictive genetic test in Huntington’s disease. Clinical Genetics, 83 ( 3 ), 221 – 231.
dc.identifier.citedreferenceMandrioli, J., Bernabei, C., Georgoulopoulou, E., Nichelli, P., Cortelli, P., Tupler, R., et al. ( 2010 ). Comment on Huntington’s disease presenting as ALS. Amyotrophic Lateral Sclerosis, 11, 408 – 409.
dc.identifier.citedreferenceMaruyama, H., Morino, H., et al. ( 2010 ). Mutations of optineurin in amyotrophic lateral sclerosis. Nature, 465 ( 7295 ), 223 – 226.
dc.identifier.citedreferenceMizutani, T., Aki, M., Shiozawa, R., Unakami, M., Nozawa, T., Yajima, K., et al. ( 1990 ). Development of ophthalmoplegia in amyotrophic lateral sclerosis during long‐term use of respirators. Journal of Neurological Sciences, 99 ( 2–3 ), 311 – 319.
dc.identifier.citedreferenceMyers, R. H., Sax, D. S., Schoenfeld, M., et al. ( 1985 ). Late onset of Huntington’s disease. Journal of Neurology, Neurosurgery and Psychiatry, 48 ( 6 ), 530 – 534.
dc.identifier.citedreferenceNagaraja, S. M., Jain, S., & Muthane, U. B. ( 2006 ). Perspectives towards predictive testing in Huntington disease. Neurology India, 54, 359 – 362.
dc.identifier.citedreferenceNational Society of Genetic Counselors. ( 2013 ). DNA Banking. http://www.nsgc.org/DNABanking/tabid/156/Default.aspx.
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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