IF 0.8 4区医学

Neurocase Pub Date : 2025-10-09 DOI: 10.1080/13554794.2025.2573318

Faheem Arshad, Gautham Arunachal Udupi, Akhitha Hk, Aparna Somaraj, Darshini Jeevendra Kumar, Suvarna Alladi

{"title":"Expanding the genetic spectrum of corticobasal syndrome: novel CCNF p.M394L variant from a South Asian cohort.","authors":"Faheem Arshad, Gautham Arunachal Udupi, Akhitha Hk, Aparna Somaraj, Darshini Jeevendra Kumar, Suvarna Alladi","doi":"10.1080/13554794.2025.2573318","DOIUrl":"https://doi.org/10.1080/13554794.2025.2573318","url":null,"abstract":"Corticobasal syndrome (CBS) is a rare neurodegenerative disorder characterized by asymmetric motor symptoms, cognitive impairment, and cortical dysfunction. While CCNF gene mutations have been reported in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), their role in CBS spectrum remains unexplored. This study aimed to investigate a 48-year-old patient of South Asian origin, presenting with progressive cognitive decline, behavioral disturbances, and asymmetric motor symptoms characteristic of overlap CBS syndrome. Detailed cognitive and behavioral assessments were conducted, along with brain imaging and whole-exome sequencing. Structural modeling was performed to assess the functional impact of the novel CCNF variant. The family history indicated an autosomal dominant inheritance pattern of progressive cognitive decline, further suggesting genetic predisposition. Brain imaging revealed asymmetric atrophy and hypometabolism in the left temporoparietal and prefrontal regions. Genetic analysis identified a novel heterozygous missense variant (p.Met394Leu) in the CCNF gene. Structural modeling and in-silico prediction tools suggested deleterious effects, though its functional significance remains uncertain. The study reports a potential link between CCNF variants and CBS in a South Asian family, expanding the genetic spectrum of overlap CBS. While the findings suggest potential pathogenicity, further research is required to confirm this association and elucidate the underlying mechanisms.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"1-9"},"PeriodicalIF":0.8,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145259425","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Differential confrontation-naming performance associated with Kanji or Kana representation in a single Broca's aphasia case. 在单个布洛卡失语症病例中，汉字或假名表示的差异对抗性命名表现。

IF 0.8 4区医学

Neurocase Pub Date : 2025-10-02 DOI: 10.1080/13554794.2025.2562919

Koji Yamada, Kosei Hashimoto, Noriko Haruhara

{"title":"Differential confrontation-naming performance associated with Kanji or Kana representation in a single Broca's aphasia case.","authors":"Koji Yamada, Kosei Hashimoto, Noriko Haruhara","doi":"10.1080/13554794.2025.2562919","DOIUrl":"10.1080/13554794.2025.2562919","url":null,"abstract":"This study centers on a 44-year-old right-handed Japanese male with moderate Broca's aphasia. During a confrontation-naming task (CNT) during therapy, the person expressed that it was \"easier to speak when I recall (in my mind) the Kana (Hiragana and Katakana) characters.\" To investigate this claim and its relationship to language impairment, this study sought to determine the effect of character type on the CNT, focusing on the person's perceived difference between Kanji and Katakana. We selected pictures corresponding to highly orthographically plausible Kanji and Katakana (more appropriate for comparison than Hiragana) words for CNT and oral reading tasks that the patient performed. The results revealed more correct responses in CNT in the Katakana stimulus group than in the Kanji one; the latency in oral reading was shorter in the Katakana group as well. The results suggest that words written in Katakana have a better naming performance than those in Kanji because of the influence of the characters as represented in the mental imagery of Katakana. A possible reason for this is that, for our respondent, Katakana is more likely to activate phonological information than Kanji. Additionally, the writing and reading training for confrontation-naming may have implicitly influenced the tasks.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"1-11"},"PeriodicalIF":0.8,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145214192","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Multimodal neuroimaging in a case of familial (G114V) juvenile Creutzfeldt-Jakob disease presenting with parkinsonism. 家族性（G114V）青少年克雅氏病伴帕金森病的多模式神经影像学分析

IF 0.8 4区医学

Neurocase Pub Date : 2025-09-26 DOI: 10.1080/13554794.2025.2566165

Claudia Pascovich, Ignacio Amorin, Andrés Damian, María Langhain, Nicolás Sgarbi, Rodolfo Ferrando

{"title":"Multimodal neuroimaging in a case of familial (G114V) juvenile Creutzfeldt-Jakob disease presenting with parkinsonism.","authors":"Claudia Pascovich, Ignacio Amorin, Andrés Damian, María Langhain, Nicolás Sgarbi, Rodolfo Ferrando","doi":"10.1080/13554794.2025.2566165","DOIUrl":"https://doi.org/10.1080/13554794.2025.2566165","url":null,"abstract":"Creutzfeldt - Jakob disease (CJD) is a subacute spongiform encephalopathy characterised by rapidly progressive dementia and is difficult to diagnose antemortem. We present the case of a 21-year-old woman with a family history of early-onset neurological disease of unclear aetiology. She had a 2-year history of rapidly progressive cognitive decline, cogwheel rigidity in all four limbs and ataxia. After initial evaluation, she was referred to the nuclear medicine centre for 99mTc-TRODAT SPECT, which revealed mildly reduced uptake of the presynaptic radiotracer in the right caudate and left putamen, consistent with dopaminergic dysfunction. 99mTc-ECD perfusion SPECT showed widespread cortical hypoperfusion, including involvement of the right thalamus and cerebellum, indicative of global neuronal dysfunction. MRI revealed high signal intensity on diffusion-weighted imaging, and 11C-deuterium-L-deprenyl PET/CT demonstrated reactive astrocytosis. The final diagnosis was probable CJD according to the Centers for Disease Control and Prevention criteria. Follow-up revealed that the patient belonged to a family carrying a missense mutation in the PRNP gene (G114V). These findings describe the neuroimaging phenotype of an early-onset familial CJD and highlight the role of multimodal brain imaging in both the diagnosis and pathophysiological understanding of movement disorders in this condition.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"1-6"},"PeriodicalIF":0.8,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145180087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Adolescent-onset primary brain calcification: a case report presenting with neuropsychiatric symptoms. 青少年发病的原发性脑钙化：1例报告，表现为神经精神症状。

IF 0.8 4区医学

Neurocase Pub Date : 2025-09-19 DOI: 10.1080/13554794.2025.2562920

Yiğit Özaydın, Fevzi Tuna Ocakoğlu, Eyüp Sabri Ercan

引用次数: 0

Co-occurrence of primary familial brain calcification from a likely pathogenic SLC20A2 variant and Alzheimer's disease biology. 可能致病的SLC20A2变异引起的原发性家族性脑钙化与阿尔茨海默病生物学共同发生

IF 0.8 4区医学

Neurocase Pub Date : 2025-09-17 DOI: 10.1080/13554794.2025.2562918

Hyuk-Je Lee, Sang-Won Yoo, Myungshin Kim, Hoon Seok Kim, Joong-Seok Kim

引用次数: 0

Hummingbird sign in a patient with DNMT1-related disorder. 一名dnmt1相关疾病患者出现蜂鸟征。

IF 0.8 4区医学

Neurocase Pub Date : 2025-09-12 DOI: 10.1080/13554794.2025.2560858

Mitsuyoshi Tamura, Atsuhiko Sugiyama, Shigeki Hirano, Yujiro Higuchi, Hiroshi Takashima, Masahiro Mori

引用次数: 0

rTMS-based neuromodulation for treatment of postoperative aphasia after brain tumor resection: a case report. 基于rtms的神经调节治疗脑肿瘤切除术后失语1例。

IF 0.8 4区医学

Neurocase Pub Date : 2025-08-30 DOI: 10.1080/13554794.2025.2552671

Mitra L Neymeyer, Lena Rybka, Nikki Hoekzema, Heike Schneider, Melina Engelhardt, Rosario Tomasello, Peter Vajkoczy, Adrià Rofes, Thomas Picht, Tizian Rosenstock

{"title":"rTMS-based neuromodulation for treatment of postoperative aphasia after brain tumor resection: a case report.","authors":"Mitra L Neymeyer, Lena Rybka, Nikki Hoekzema, Heike Schneider, Melina Engelhardt, Rosario Tomasello, Peter Vajkoczy, Adrià Rofes, Thomas Picht, Tizian Rosenstock","doi":"10.1080/13554794.2025.2552671","DOIUrl":"https://doi.org/10.1080/13554794.2025.2552671","url":null,"abstract":"Postoperative aphasia is a significant complication following brain tumor resection, affecting both quality of life and prognosis. Currently, speech language therapy (SLT) is the primary approach for treating aphasia, with no alternative rehabilitation options available. However, rTMS has shown promise intreating stroke-related language impairments. In this case report, we applied bilateral rTMS to address aphasia following brain tumor resection. A 36-year-old man with a known diagnosis of an oligodendroglioma (WHO3°) at the temporo-parieto-occipital junction presented with initial mild aphasia. Preoperative diagnostics revealed language-relevant areas in the supramarginal gyrus and infiltration of the AF, ILF and IFOF, leading to the decision to perform an awake craniotomy fortumor resection. Following complete resection, ischemia medial to the resection cavity was observed, resulting in a worsening of aphasia (AAT scorepostop196/440). Over 7 days, continuous bilateral rTMS combined with SLT was administered without any severe side effects. The patient's aphasia significantly improved post-treatment (AAT scoreDischarge291/440; AAT score1 Month343/440; AAT score3 Months 386/440). Given the encouraging results, a potential beneficial effect of the additional rTMS therapy may be suggested. However, larger cohorts and randomized controlled trials are necessary to confirm these preliminary results.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"1-9"},"PeriodicalIF":0.8,"publicationDate":"2025-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144976583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

IF 0.8 4区医学

Neurocase Pub Date : 2025-08-01 Epub Date: 2025-01-15 DOI: 10.1080/13554794.2025.2451997

Wei-Liang Liu, Fang Li

{"title":"VPS13D-related disorders: a severe case, review, and genotype-phenotype correlation.","authors":"Wei-Liang Liu, Fang Li","doi":"10.1080/13554794.2025.2451997","DOIUrl":"10.1080/13554794.2025.2451997","url":null,"abstract":"Background: VPS13D-related disorders are autosomal recessive genetic disorders characterized by movement disorders primarily including ataxia and spasticity, mainly accompanying developmental delay, seizures, and neuroimaging abnormalities. VPS13D-related spectrum disorder (VSD) may better reflect the characteristics of the disease. So far, the relationship of VPS13D genotype and phenotype of VSD has not been established.Methods: We analyzed clinical data and collected DNA samples from a severe patient and his healthy parents. Whole exome sequencing was performed by next-generation sequencing. We presented a review of all cases with VSD to establish genotype-phenotype correlation.Results: The patient had compound heterozygous mutations (c.9785T>C, p.L3262P; c.8687C>T, p.T2896M) in VPS13D gene, maternally and paternally inherited, respectively. The p.L3262P is a novel mutation. The individual presented with ataxia, dystonia, developmental delay, epilepsy and neuroimaging abnormalities, including bilateral caudate and putamen, cerebellum, and right temporal lobe, which are the first detailed imaging study reported in VSD to date. We first report that the patient has achieved significant improvement through active treatment. We first summarize genotype-phenotype correlation of VSD, highlighting that the severity of the phenotype is mainly due to the mutations affecting important domains of VPS13D protein or special severe missense mutations.Conclusions: Neuroimaging analysis is helpful to the etiology study of VSD. Active treatment of VSD is still meaningful. Important VPS13D regions correlated with severe phenotype need to be further studied.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"133-137"},"PeriodicalIF":0.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143014878","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

VCP p.Arg191Gln mutation in a patient with semantic dementia: a case report. 语义性痴呆患者VCP p.Arg191Gln突变1例

IF 0.8 4区医学

Neurocase Pub Date : 2025-08-01 Epub Date: 2025-07-22 DOI: 10.1080/13554794.2025.2537955

Ryota Kobayashi, Hiroya Naruse, Akihito Suzuki, Tatsushi Toda, Shinobu Kawakatsu

{"title":"VCP p.Arg191Gln mutation in a patient with semantic dementia: a case report.","authors":"Ryota Kobayashi, Hiroya Naruse, Akihito Suzuki, Tatsushi Toda, Shinobu Kawakatsu","doi":"10.1080/13554794.2025.2537955","DOIUrl":"10.1080/13554794.2025.2537955","url":null,"abstract":"Variants in VCP (encoding valosin-containing protein) lead to inclusion body myopathy, which is typically associated with Paget's disease of the bones and frontotemporal dementia (FTD). When symptoms of frontotemporal lobar degeneration (FTLD) develop in patients with pathogenic VCP variants, the symptoms mainly present as behavioral-variant (bv) FTD and rarely as semantic dementia (SD). Various pathogenic VCP variants have been reported to cause bvFTD, whereas the only variant previously linked to SD is VCP p.Arg155Cys. Here, we report the case of a female Japanese patient with SD carrying the pathogenic VCP variant p.Arg191Gln. The patient developed naming difficulties, word-finding difficulties, stereotypical behavior, decreased spontaneity, and executive dysfunction at 55 years old and was diagnosed with SD at our hospital at 56 years old. At 59 years, there were no clinical findings suggestive of myopathy, pyramidal signs, or bone involvement. Genetic analyses, including whole-exome and Sanger sequencing, identified the VCP p.Arg191Gln variant in the patient with isolated SD. She required wheelchair assistance for 62 years and was mute. She later died from complications of malnutrition due to feeding difficulties. This case suggests that VCP variants may result in not only bvFTD but also SD, indicating a broader spectrum of FTLD-related phenotypes linked to pathogenic VCP variants.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"167-172"},"PeriodicalIF":0.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692209","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Dentatorubral pallidoluysian atrophy with cognitive impairment, epilepsy, movement disorders, and psychosis - a case. 伴认知障碍、癫痫、运动障碍和精神病的齿状体白斑萎缩1例。

IF 0.8 4区医学

Neurocase Pub Date : 2025-08-01 Epub Date: 2025-01-01 DOI: 10.1080/13554794.2024.2447116

Byong-Kyu Kim, Jin-Mo Park

引用次数: 0

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