title: Case Study: Somatic Sprouts and Halo-Like Amorphous Materials of the Purkinje Cells in Huntington's Disease.
abstract: We described a 63-year-old Japanese female with genetically confirmed Huntington's disease who showed unusual pathological findings in the cerebellum. This case exhibited typical neuropathological features as Huntington's disease, including severe degeneration of the neostriatum and widespread occurrence of ubiquitin and expanded polyglutamine-positive neuronal intranuclear and intracytoplasmic inclusions. The cerebellum was macroscopically unremarkable; however, somatic sprouts and halo-like amorphous materials of Purkinje cell with a large amount of torpedoes were noteworthy. Furthermore, the Purkinje cells were found to have granular cytoplasmic inclusions. Somatic sprouting is a form of degenerated Purkinje cell exhibited in several specific conditions. Although this finding usually appeared in developmental brains, several neurodegenerative disorders, including Menkes kinky hair disease, familial spinocerebellar ataxia, acute encephalopathy linked to familial hemiplegic migraine, and several other conditions, have been reported showing sprouting from the soma of Purkinje cell. We propose that Huntington's disease is another degenerative condition associated with these distinct neuropathological findings of Purkinje cell. Abnormally accumulated huntingtin protein in the cytoplasm could be related to the development of these structures.
authors.affiliation: Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, 920-8640, Japan. ksakai@med.kanazawa-u.ac.jp.
authors.forename: Kenji
authors.initials: K
authors.lastname: Sakai
authors.affiliation: Department of Neurology, National Hospital Organization Iou Hospital, Kanazawa, Japan.
authors.forename: Chiho
authors.initials: C
authors.lastname: Ishida
authors.affiliation: Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, 920-8640, Japan.|Department of Neurology, National Hospital Organization Nanao Hospital, Nanao, Japan.
authors.forename: Akiyoshi
authors.initials: A
authors.lastname: Morinaga
authors.affiliation: Department of Neurology, National Hospital Organization Iou Hospital, Kanazawa, Japan.
authors.forename: Kazuya
authors.initials: K
authors.lastname: Takahashi
authors.affiliation: Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, 920-8640, Japan.
authors.forename: Masahito
authors.initials: M
authors.lastname: Yamada
mesh_terms: D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006816:Huntington Disease / Q000473:pathology*; D008875:Middle Aged; D011014:Pneumonia; D011689:Purkinje Cells / Q000473:pathology*
keywords: Cactus; Halo-like amorphous material; Huntington’s disease; Somatic sprout; Torpedo