Christian Thomas,Martin Hasselblatt
Christian Thomas
Choroid plexus tumours are rare epithelial neoplasms arising from the choroid plexus, accounting for approximately 0.2% of all central nervous system tumours but up to 20% of brain tumours diagnosed during the first year of life. CPTs exhib...
Basal Ganglia Lesion Associated With Faciobrachial Dystonic Seizures (FBDS) in Anti-LGI1 Encephalitis: A Clinicopathological Case Report [0.03%]
抗LGI1抗体脑炎相关面臂肌张力障碍性发作(FBDS)的基底神经节病变：临床病理病例报告
Pinfei Ni,Haitao Ren,Siyuan Fan et al.
Pinfei Ni et al.
This case provides clinicopathological evidence supporting the association between FBDS and basal ganglia involvement in anti-LGI1 encephalitis. It highlights the diagnostic challenge posed by tumour-like unilateral basal ganglia lesions on...
Utility of Optical Genome Mapping in the Characterisation of the Global Genomic Architecture of Paediatric Central Nervous System Tumours: A Pilot Study [0.03%]
光学基因组测序在儿童中枢神经系统肿瘤全球基因组图谱特征研究中的应用：一项试点研究
Viola Alesi,Silvia Genovese,Serena Russo et al.
Viola Alesi et al.
Introduction: Genomic instability is common in cancer, driven by different mechanisms and often linked to disease stage and progression. Optical genome mapping (OGM) enables the detection of genome-wide balanced and unbal...
Papillary Tumour of the Pineal Region, in a Child With a Germline PTEN Pathogenic Variant, Arisen in the Fourth Ventricle [0.03%]
第四脑室内出现的松果体区乳头状肿瘤伴PTEN基因致病性胚系突变儿病例报告
Gianluca Marucci,Veronica Saletti,Rosina Paterra et al.
Gianluca Marucci et al.
We describe a unique case of papillary tumour of the pineal region (PTPR) arising in the fourth ventricle without any demonstrable anatomical continuity with the pineal region, in a 2-year-old male patient harbouring a germline PTEN pathoge...
Frontotemporal Lobar Degeneration-TDP Type C With Striatal Glial Cytoplasmic Inclusions and Motor Neuron Degeneration [0.03%]
TDP型C额颞叶变性伴纹状体胶细胞质包涵体和运动神经元变性
Akiko Uchino,Kazutomi Kanemaru,Airi Tarutani et al.
Akiko Uchino et al.
We report an autopsy case of frontotemporal lobar degeneration (FTLD)-TDP type C with severe striatal involvement and annexin A11- and phosphorylated TDP-43-positive glial cytoplasmic inclusions. The patient developed progressive asymmetric...
Reduced Soluble Ubiquilin2 in Amyotrophic Lateral Sclerosis Carrying Ubiquilin2 (P494L) Mutation: Clinicopathological and Biochemical Evidence From an Autopsy Case [0.03%]
携带泛素连接蛋白2（P494L）突变的肌萎缩侧索硬化症中小泛素连接酶可溶性表达降低：一例尸检病例的临床病理和生化证据
Tadashi Adachi,Toshiya Nakano,Kentaro Yoshida et al.
Tadashi Adachi et al.
We report the clinicopathological and biochemical findings of ALS associated with a UBQLN2 P494L mutation. Autopsy revealed widespread TDP-43 pathology and UBQLN2-positive inclusions. Immunoblot analysis demonstrated a marked reduction of s...
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King David,Keck Michaela-Kristina
King David
Unravelling the Significance of Cystatin C and Bunina Bodies in Amyotrophic Lateral Sclerosis Pathogenesis [0.03%]
解开半胱氨酸蛋白酶抑制剂C和布尼纳体在肌萎缩侧索硬化症发病机制中的意义
Sarah M Granger,Rosemary A Staniforth,Asbjorg Osk Snorradottir et al.
Sarah M Granger et al.
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND), is a fatal neurodegenerative disease primarily affecting motor neurons. Two key protein inclusions found in lower motor neurons serve as neuropathological hallma...
Neuropathological and Molecular Features Associated With a Heterozygous DNAJC7 Mutation in Amyotrophic Lateral Sclerosis [0.03%]
与异染粒体DNAJC7突变相关的肌萎缩侧索硬化神经病理和分子特征
Yoshiaki Nakayama,Kodai Kume,Takashi Baba et al.
Yoshiaki Nakayama et al.
Aims: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder with unclear molecular mechanisms. Heterozygous protein-truncating variants of DNAJC7, which encode a cochaperone involved in Hsp70/90-mediat...