title: Autopsy case of concurrent Huntington's disease and neurofibromatosis type 1.
abstract: We report here an autopsy case of concurrent Huntington's disease (HD) and neurofibromatosis type 1 (NF1), also known as von Recklinghausen'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 NF1 or concurrent HD and NF1. She was diagnosed as having NF1 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 was made by identification of the abnormally expanded cytosine-adenine-guanine repeats in the Huntington's disease gene. Her condition deteriorated gradually to an apallic state and she died at age 60. Post-mortem 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. 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. Features associated with the central nervous system involvement of NF1 were not found in the brain, but HD pathology might have been accelerated by the concurrence of NF1. This is the third report of a case with concurrent HD and NF1 in the world, and the first study in which occurrence of polyglutamine inclusions was confirmed on post-mortem examination.
authors: Department of Psychiatry, Graduate School of Medicine, Yokohama City University School of Medicine, Yokohama, Japan; Dementia Research Project, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan.
authors: Ito
authors: I
authors: Kawakami
authors: Omi
authors: O
authors: Katsuse
authors: Naoya
authors: N
authors: Aoki
authors: Takashi
authors: T
authors: Togo
authors: Kyoko
authors: K
authors: Suzuki
authors: Daisuke
authors: D
authors: Isojima
authors: Daizo
authors: D
authors: Kondo
authors: Eizo
authors: E
authors: Iseki
authors: Kenji
authors: K
authors: Kosaka
authors: Haruhiko
authors: H
authors: Akiyama
authors: Yoshio
authors: Y
authors: Hirayasu
mesh_terms: D001284:Atrophy; D001344:Autopsy; D001921:Brain / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D006816:Huntington Disease / Q000150:complications* / Q000175:diagnosis*; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000175:diagnosis*
keywords: Huntington's disease; concurrence; neurofibromatosis type1; neuronal intranuclear inclusions