{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T16:38:46Z","timestamp":1787071126411,"version":"build-2736575974"},"reference-count":26,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Huntington's Disease (HD) is an autosomal dominant, progressive neuropsychiatric illness caused by CAG repeat expansion. The high penetrance of the mutation and limited treatment options make it challenging for patients and caretakers. Proper counseling enables families to cope better and make informed life choices.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>To explore some complex issues in genetic counseling and testing (GCAT) in HD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods:<\/jats:title>\n                    <jats:p>Vignettes of patients who underwent genetic testing along with pre and post-test counseling at our GCAT clinic.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>Case 1: Diagnosis of juvenile HD meant that the healthy parent was an obligate carrier of the mutation. Case 2: Consanguinity resulted in a dense prevalence of HD and &gt;50% risk for the progeny. Case 3: Predictive testing in youth with healthy parents but affected uncles and aunts revealed a HD expansion.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>HD can present with complex inheritance patterns and proper counseling is necessary for better outcomes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/0028-3886.359184","type":"journal-article","created":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T03:31:06Z","timestamp":1667273466000},"page":"2141-2144","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":3,"title":["Complexities in Genetic Counseling and Testing of Huntington's Disease: A Perspective from India"],"prefix":"10.4103","volume":"70","author":[{"given":"Nikhil","family":"Ratna","sequence":"first","affiliation":[{"name":"Department of Clinical Neurosciences, Molecular Genetics Laboratory, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India"},{"name":"Department of Psychiatry, Molecular Genetics Laboratory, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Swathi Lakshmi","family":"Pasupulati","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Molecular Genetics Laboratory, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ravi K.","family":"Nadella","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Molecular Genetics Laboratory, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meera","family":"Purushottam","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Molecular Genetics Laboratory, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjeev","family":"Jain","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Molecular Genetics Laboratory, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2022,10,20]]},"reference":[{"key":"R1-20250926","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/0092-8674(93)90585-E","article-title":"A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease 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