Feline Niemann-Pick Disease With a Novel Mutation of SMPD1 Gene
Feline Niemann-Pick Disease With a Novel Mutation of SMPD1 Gene
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DOI：
10.1177/0300985820921810
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发表时间：
2020-04-29
影响因子：
2.4
通讯作者：
Uchida, Kazuyuki
中科院分区：
文献类型：
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作者：
Takaichi, Yuta;Chambers, James K.;Uchida, Kazuyuki
一只4个月大的雌性混种猫表现出步态障碍和最终的步态障碍伴意向性震颤，并在14个月大时死亡。尸检组织学分析显示神经元细胞、肺泡上皮细胞、肝细胞和肾小管上皮细胞变性。在神经系统和内脏器官中观察到巨噬细胞浸润。神经细胞胞浆内充满卢克索固蓝（LFB）阴性、过碘酸希夫（PAS）阴性颗粒，巨噬细胞胞浆内LFB阳性、PAS阴性。在超微结构上，在脑和内脏器官中观察到同心圆沉积物。遗传和生化分析显示SMPD 1基因无义突变（c.1017G>A），SMPD 1 mRNA表达降低，酸性鞘磷脂酶免疫反应性降低。因此，这只猫被诊断为患有SMPD 1基因突变的尼曼-皮克病，这是一种类似于人类尼曼-皮克病A型的综合征。
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.1017G>A) in the SMPD1 gene, a decrease of SMPD1 mRNA expression, and reduced acid sphingomyelinase immunoreactivity. Therefore, this cat was diagnosed as having Niemann-Pick disease with a mutation in the SMPD1 gene, a syndrome analogous to human Niemann-Pick disease type A.