Peripheral nervous system pathology in fragile X tremor/ataxia syndrome (FXTAS)
Peripheral nervous system pathology in fragile X tremor/ataxia syndrome (FXTAS)
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DOI：
10.1111/j.1440-1789.2008.00948.x
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发表时间：
2009-06-01
期刊：
影响因子：
2.3
通讯作者：
Harik, Sami I.
中科院分区：
文献类型：
--
作者：
Gokden, Murat;Al-Hinti, Jomana T.;Harik, Sami I.
脆性X震颤/共济失调综合征（FXTAS）发生在脆性X智力低下1（FMR 1）基因中度CGG扩增的个体中，并与神经元和星形胶质细胞中的核内包涵体相关。虽然描述了脑和脊髓的神经病理学结果，但未报告周围神经系统的病理学特征。在这里，我们报告了新的神经病理学发现，在周围神经系统，特别是在自主神经节尸检的男子FXTAS。除了特征性的脑和脊髓发现外，在肾上腺髓质、背根神经节、椎旁交感神经节、胃肌间神经节和心脏心外膜下自主神经节的神经节细胞中发现了典型的核内包涵体。我们的研究结果表明，FXTAS广泛涉及中枢和外周神经系统，这解释了从痴呆到自主神经功能障碍的各种神经症状。
Fragile X tremor/ataxia syndrome (FXTAS) occurs in individuals with moderate CGG expansion of the fragile X mental retardation 1 (FMR1) gene and is associated with intranuclear inclusions in neurons and astrocytes. Although the neuropathologic findings in the brain and spinal cord were described, pathological features in the peripheral nervous system were not reported. Here, we report on novel neuropathological findings in the peripheral nervous system and especially in autonomic ganglia at autopsy in a man with FXTAS. In addition to the characteristic brain and spinal cord findings, typical intranuclear inclusions were identified in the ganglion cells of adrenal medulla, dorsal root ganglia, paraspinal sympathetic ganglia, myenteric ganglia of the stomach and subepicardial autonomic ganglion of the heart. Our findings indicate that FXTAS diffusely involves the central and peripheral nervous systems, which explains the protean neurological symptoms ranging from dementia to dysautonomia.