Department of Neurology, Memory Unit, Institute of Biomedicine of Seville, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
Anatomic Pathology Department, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
BMC Neurol. 2023 Feb 2;23(1):55. doi: 10.1186/s12883-023-03082-0.
In frontotemporal dementia (FTD) spectrum, younger patients may correspond to fusopathy cases, and cognitive decline could be rapidly progressive. We present a clinical and neuropathological description of a patient.
A 37-year-old man, without a family history of neurodegenerative diseases, was brought by his family to consult for dysarthria and behavioural change. Initial exploration showed spastic dysarthria and disinhibition. He progressively worsened with a pseudobulbar syndrome, right-lateralized pyramidal signs, left hemispheric corticobasal syndrome and, finally, lower motor neuron signs in his right arm. He died four years after the initiation of the syndrome from bronchopneumonia. Laboratory tests (including blood and cerebrospinal fluid (CSF)) were normal. Magnetic resonance imaging (MRI) and fluorodeoxyglucose-containing positron emission tomography (PET-F-FDG) showed left fronto-insular atrophy and hypometabolism. Subsequently, 123I-ioflupane (DaT-SCAN®) single-photon emission computed tomography (SPECT) was pathologic, manifesting bilaterally decreased activity with greater affection on the left side. Only a third electromyogram (EMG) detected denervation in the last year of evolution. No mutations were found in genes such as Tau, progranulin, C9orf72, FUS, TDP-43, CHMP2B, or VCP. In necropsy, severe frontotemporal atrophy with basophilic neuronal cytoplasmic and intranuclear inclusions, negative for tau and TAR DNA binding protein 43 (TDP-43), but positive for fused in sarcoma (FUS) consistent with specifically basophilic inclusions body disease (BIBD) type was found.
In patients affected by FTD, particularly the youngest, with rapidly progressive decline and early motor affection, fusopathy must be suspected. These cases can include motor signs described in the FTD spectrum. Lower motor neuron affection in EMG could be detected late.
在额颞叶痴呆（FTD）谱系中，年轻患者可能对应于 fusopathy 病例，认知能力下降可能呈快速进展。我们呈现了一例患者的临床和神经病理学描述。
一名 37 岁男性，无神经退行性疾病家族史，因构音障碍和行为改变由其家人带来就诊。初步检查显示痉挛性构音障碍和去抑制。他逐渐恶化，出现假性延髓综合征、右侧锥体束征、左侧大脑皮质基底节综合征，最终出现右侧手臂下运动神经元体征。他在综合征发病四年后死于支气管肺炎。实验室检查（包括血液和脑脊液（CSF））正常。磁共振成像（MRI）和氟脱氧葡萄糖正电子发射断层扫描（PET-F-FDG）显示左额岛叶萎缩和代谢低下。随后，123I-碘代苯丙氨酸（DaT-SCAN®）单光子发射计算机断层扫描（SPECT）显示双侧活性降低，左侧更为明显。在疾病进展的最后一年，只有第三次肌电图（EMG）检测到失神经支配。未发现 Tau、颗粒蛋白前体、C9orf72、FUS、TDP-43、CHMP2B 或 VCP 等基因的突变。尸检发现严重的额颞叶萎缩，伴有嗜碱性神经元细胞质和核内包涵体，tau 和 TAR DNA 结合蛋白 43（TDP-43）阴性，但阳性融合肉瘤（FUS），与特异性嗜碱性包涵体病（BIBD）类型一致。
在受 FTD 影响的患者中，特别是最年轻的患者，若出现快速进展性下降和早期运动障碍，必须怀疑 fusopathy。这些病例可能包括 FTD 谱中描述的运动体征。在 EMG 中可检测到晚期的下运动神经元受累。
