Brainstem atrophy on routine MR study in pallidopontonigral degeneration.
Brainstem atrophy on routine MR study in pallidopontonigral degeneration.
复制标题
苍白球脑桥黑体变性常规 MR 研究中的脑干萎缩。
DOI：
10.1007/s00415-009-5013-x
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发表时间：
2009
影响因子：
6
通讯作者：
Wszolek,ZbigniewK
中科院分区：
文献类型：
--
作者：
Slowinski,JerzyL;Schweitzer,KatherineJ;Imamura,Akiko;Uitti,RyanJ;Strongosky,AudreyJ;Dickson,DennisW;Broderick,DanielF;Wszolek,ZbigniewK
前额叶黑质变性(PPND)是一种常染色体显性遗传性疾病，属于17号染色体连锁的额颞叶痴呆(FTDP-17)。它是由17号染色体上编码微管相关蛋白tau的基因N279K突变引起的[3，11]。在临床上，PPND的特点是早期和突出的帕金森病，并有轻微的认知和行为改变，PPND的四个分支的临床表现有所不同[9，11，13]。病理上，PPND表现为神经元丢失和胶质细胞增生，最明显的是苍白球、桥脑和中脑被盖和黑质[7，13]。免疫组织化学显示广泛的神经元和神经胶质tau病变[7，8]。对PPND患者进行的常规磁共振(MR)扫描显示双侧皮质萎缩、脑室增大、黑质致密部缩小和桥脑被盖萎缩[4]。Arvanitakis等人[1]强调了5名受影响的PPND患者中显著的颞叶萎缩；在MR研究8个月后，一名无症状的N279K突变携带者也出现了这一现象。在一些带有MAPT突变的FTDP-17病例中，尸检中观察到中脑和脑桥萎缩[14]。我们先前的病理和MR研究证实进行性核上性麻痹(PSP)患者有严重的脑干萎缩[10，12]。由于PPND与其他非典型帕金森病有一些临床和病理特征[1，8，9]，我们决定检查脑干萎缩是否也是PPND的特征，如果是，这一特征是否有助于PPND的鉴别诊断。
Sirs, Pallidopontonigral degeneration (PPND) is an autosomal dominant inherited disorder which belongs to the spectrum of frontotemporal dementia linked to chromosome 17 (FTDP-17). It is caused by the N279K mutation in the gene encoding the microtubule-associated protein tau on chromosome 17 [3, 11]. Clinically, PPND is characterized by early and prominent parkinsonism with mild cognitive and behavioral changes, with some differences in clinical presentation between four branches of the PPND kindred [9, 11, 13]. Pathologically, PPND presents with neuronal loss and gliosis, most pronounced in the globus pallidus, pontine and mesencephalic tegmentum and substantia nigra [7, 13]. Immunohistochemistry reveals extensive neuronal and glial tau pathology [7, 8]. Routine magnetic resonance (MR) scanning performed in PPND patients reveals bilateral cortical atrophy, ventricular enlargement, narrowing of the substantia nigra pars compacta and atrophy of the pontine tegmentum [4].Arvanitakis et al.[1] stressed prominent temporal atrophy in five affected PPND subjects; this was also seen in one asymptomatic N279K mutation carrier who converted to affected status 8 months after the MR study. In some FTDP-17 cases with the MAPT mutation, atrophy of the midbrain and pons was observed at autopsy [14]. Our previous pathological and MR studies confirmed profound brainstem atrophy in progressive supranuclear palsy (PSP)[10, 12]. Because PPND shares some clinical and pathological features with other atypical parkinsonian disorders [1, 8, 9], we decided to examine whether brainstem atrophy is also a feature of PPND and, if so, whether this feature may facilitate the differential diagnosis of PPND.