Computational Neuroimaging Group, Trinity College Dublin, D02 R590 Dublin, Ireland.
Department of Neurology, St James's Hospital, D08 NHY1 Dublin, Ireland.
J Integr Neurosci. 2022 Apr 27;21(3):88. doi: 10.31083/j.jin2103088.
While amyotrophic lateral sclerosis (ALS) is widely recognised as a multi-network disorder with extensive frontotemporal and cerebellar involvement, sensory dysfunction is relatively under evaluated. Subtle sensory deficits have been sporadically reported, but there is a prevailing notion that sensory pathways may be relatively spared in ALS.
In a prospective neuroimaging study we have systematically evaluated cerebral grey and white matter structures involved in the processing, relaying and mediation of sensory information. Twenty two positive ALS patients (C9+ ALS), 138 negative ALS patients (C9- ALS) and 127 healthy controls were included.
Widespread cortical alterations were observed in C9+ ALS including both primary and secondary somatosensory regions. In C9- ALS, cortical thickness reductions were observed in the postcentral gyrus. Thalamic nuclei relaying somatosensory information as well as the medial and lateral geniculate nuclei exhibited volume reductions. Diffusivity indices revealed posterior thalamic radiation pathology and a trend of left medial lemniscus degeneration was also observed in C9- ALS ( = 0.054). Our radiology data confirm the degeneration of somatosensory, visual and auditory pathways in ALS, which is more marked in GGGGCC hexanucleotide repeat expansion carriers.
In contrast to the overwhelming focus on motor system degeneration and frontotemporal dysfunction in recent research studies, our findings confirm that sensory circuits are also affected in ALS. The involvement of somatosensory, auditory and visual pathways in ALS may have important clinical ramifications which are easily overlooked in the context of unremitting motor decline. Subtle sensory deficits may exacerbate mobility, contribute to fall risk, impair dexterity, and worsen bulbar dysfunction, therefore comprehensive sensory testing should also be performed as part of the clinical assessments in ALS.
肌萎缩侧索硬化症（ALS）被广泛认为是一种多网络疾病，涉及广泛的额颞叶和小脑参与，但感觉功能障碍相对评估不足。虽然偶尔有报道称存在细微的感觉缺陷，但普遍认为 ALS 中感觉通路可能相对不受影响。
在一项前瞻性神经影像学研究中，我们系统地评估了涉及感觉信息处理、传递和调解的大脑灰质和白质结构。纳入 22 名阳性 ALS 患者（C9+ ALS）、138 名阴性 ALS 患者（C9- ALS）和 127 名健康对照者。
在 C9+ ALS 中观察到广泛的皮质改变，包括初级和次级体感区域。在 C9- ALS 中，后中央回的皮质厚度减少。中继体感信息的丘脑核以及内侧和外侧膝状体核显示出体积减小。弥散指数显示后丘脑辐射病理学，并且在 C9- ALS 中也观察到左侧内侧丘系退化的趋势（= 0.054）。我们的影像学数据证实了 ALS 中体感、视觉和听觉通路的退化，在 GGGGCC 六核苷酸重复扩展携带者中更为明显。
与最近研究中对运动系统退化和额颞叶功能障碍的压倒性关注相比，我们的发现证实了感觉回路在 ALS 中也受到影响。ALS 中体感、听觉和视觉通路的参与可能具有重要的临床意义，在持续的运动衰退的背景下很容易被忽视。细微的感觉缺陷可能会加剧运动能力下降，增加跌倒风险，损害灵巧性，并加重延髓功能障碍，因此在 ALS 的临床评估中也应进行全面的感觉测试。
