{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,29]],"date-time":"2025-09-29T20:37:46Z","timestamp":1759178266722},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,2,16]],"date-time":"2014-02-16T00:00:00Z","timestamp":1392508800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Psychogeriatrics"],"published-print":{"date-parts":[[2014,3]]},"abstract":"Abstract<\/jats:title>We report here an autopsy case of concurrent H<\/jats:styled-content>untington's disease (HD<\/jats:styled-content>) and neurofibromatosis type 1 (NF<\/jats:styled-content>1), also known as von R<\/jats:styled-content>ecklinghausen's disease. The patient was a Japanese woman with a significant hereditary burden: seven of her family members within four generations were affected by either NF<\/jats:styled-content>1 or concurrent HD<\/jats:styled-content> and NF<\/jats:styled-content>1. She was diagnosed as having NF<\/jats:styled-content>1 at age 24. At age 40, she showed signs of irritability, aggressive and childish behaviour, which became progressively worse. At age 48, rigidity and spastic gait were observed. One year later, choreoathetoid involuntary movements became apparent. Diagnosis of HD<\/jats:styled-content> was made by identification of the abnormally expanded cytosine\u2010adenine\u2010guanine repeats in the H<\/jats:styled-content>untington's disease gene. Her condition deteriorated gradually to an apallic state and she died at age 60. Post\u2010mortem examination revealed extensive brain atrophy, which was particularly severe in the frontal and temporal cortices and the striatum. The degree of neurodegenerative change seemed to correspond to grade IV<\/jats:styled-content>. Polyglutamine positive inclusions were seen frequently in all layers of the cerebral cortex and in the amygdala and hippocampus. Inclusions were also present in the striatum, but there were fewer than in the cortex. Remarkably, neuronal intranuclear inclusions were present in the cerebellum, although they are usually not seen in HD<\/jats:styled-content>. Features associated with the central nervous system involvement of NF<\/jats:styled-content>1 were not found in the brain, but HD<\/jats:styled-content> pathology might have been accelerated by the concurrence of NF<\/jats:styled-content>1. This is the third report of a case with concurrent HD<\/jats:styled-content> and NF<\/jats:styled-content>1 in the world, and the first study in which occurrence of polyglutamine inclusions was confirmed on post\u2010mortem examination.<\/jats:p>","DOI":"10.1111\/psyg.12040","type":"journal-article","created":{"date-parts":[[2014,2,17]],"date-time":"2014-02-17T11:37:10Z","timestamp":1392637030000},"page":"81-86","source":"Crossref","is-referenced-by-count":6,"title":["A<\/scp>utopsy case of concurrent H<\/scp>untington's disease and neurofibromatosis type 1"],"prefix":"10.1111","volume":"14","author":[{"given":"Ito","family":"Kawakami","sequence":"first","affiliation":[{"name":"Department of Psychiatry Graduate School of Medicine Yokohama City University School of Medicine Yokohama Japan"},{"name":"Dementia Research Project Tokyo Metropolitan Institute of Medical Science Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Omi","family":"Katsuse","sequence":"additional","affiliation":[{"name":"Department of Psychiatry Graduate School of Medicine Yokohama City University School of Medicine Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoya","family":"Aoki","sequence":"additional","affiliation":[{"name":"Department of Psychiatry Graduate School of Medicine Yokohama City University School of Medicine Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Togo","sequence":"additional","affiliation":[{"name":"Department of Psychiatry Graduate School of Medicine Yokohama City University School of Medicine Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyoko","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Psychiatry Graduate School of Medicine Yokohama City University School of Medicine Yokohama 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Medicine Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haruhiko","family":"Akiyama","sequence":"additional","affiliation":[{"name":"Dementia Research Project Tokyo Metropolitan Institute of Medical Science Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshio","family":"Hirayasu","sequence":"additional","affiliation":[{"name":"Department of Psychiatry Graduate School of Medicine Yokohama City University School of Medicine Yokohama 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