Feline Niemann-Pick Disease With a Novel Mutation of

Autor: Yuta, Takaichi, James K, Chambers, Mun Keong, Kok, Hiroki, Uchiyama, Makoto, Haritani, Daisuke, Hasegawa, Hiroyuki, Nakayama, Kazuyuki, Uchida
Rok vydání: 2020
Předmět:
Zdroj: Veterinary pathology. 57(4)
ISSN: 1544-2217
Popis: A 4-month-old female mixed-breed cat showed gait disturbance and eventual dysstasia with intention tremor and died at 14 months of age. Postmortem histological analysis revealed degeneration of neuronal cells, alveolar epithelial cells, hepatocytes, and renal tubular epithelial cells. Infiltration of macrophages was observed in the nervous system and visceral organs. The cytoplasm of neuronal cells was filled with Luxol fast blue (LFB)-negative and periodic acid-Schiff (PAS)-negative granules, and the cytoplasm of macrophages was LFB-positive and PAS-negative. Ultrastructurally, concentric deposits were observed in the brain and visceral organs. Genetic and biochemical analysis revealed a nonsense mutation (c.1017GA) in the
Databáze: OpenAIRE