Neurocase最新文献

We reviewed the performance of global episodic amnesic patient H.M. Although he was affected by severe anterograde and retrograde amnesia (i.e. global amnesia), he occasionally showed some "islands" of residual intact memory. Therefore, we also searched for the presence of islands of memory in other global amnesic patients with the aim of comparing their performance with that of H.M. We sustain that islands of memory might be guided by residual brain structures and memory mechanisms that are not affected by lesions causing global episodic amnesia. Finally, we considered some possible cues for the treatment of amnesia guided by the presence of islands of memory.

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.

We describe a case of supernumerary phantom limb (SPL) persisting into the chronic phase of a right putaminal hemorrhage. The individual, a forced right-handed female in her 40's, was admitted to the hospital 9 months after onset with clear consciousness, well-preserved cognitive function, severe left hemiparesis, and deep sensory impairment. When attempting to move the paralyzed upper limb, she perceived an SPL and felt as if it assisted the motion. Subsequently, the perceived SPL became associated with pain in the paralyzed upper limb. She reported that the SPL wrapped and tightened around her left arm. In another situation, she described the SPL as protruding from the back of her left shoulder and hurting when she lay on her back. Previous reports noted that hemiparesis and deep sensory impairment may be necessary for SPL's to appear. Staub et al. (2006) associated SPL to motor intention, suggesting that motor imagery triggers the feeling of movement in SPL. Our case shares these conditions with the previous reports. Pain and deep sensory impairment may contribute to SPL development. This case is interesting because SPL's with different triggers emerged at various times during the long-term course after cerebral hemorrhage onset.

Post-stroke aphasia severely impacts communication and quality of life. Aerobic exercise enhances learning and memory in healthy adults, with evidence suggesting benefits for verbal tasks. Research exploring its effects in stroke patients with aphasia is minimal. This case study investigated the effects of combining speech and language therapy (SLT) with high-intensity aerobic exercise on speech performance in post-stroke aphasia. Over 4 weeks, two participants with post-stroke anomic aphasia engaged in daily 20-min SLT sessions focused on naming activities. Speech training was followed by 20-min of high-intensity interval exercise on alternate days (Tuesday, Thursday). Speech performance was assessed daily, and the Western Aphasia Battery was used to assess expressive and receptive language skills before and after the intervention. Participants demonstrated greater day-to-day speech performance gains the following days when exercise was performed immediately after speech training (Cohen's d range: 2.40-2.59), suggesting that exercise enhanced consolidation of learned speech skills. Participants also demonstrated improved aphasia quotient scores via the Western Aphasia Battery following completion of the intervention. Results suggest potential benefits of combining SLT with aerobic exercise for rehabilitation of anomic aphasia. Findings may contribute to the development of novel approaches to facilitate response to post-stroke language rehabilitation.

Peak focal atrophy in the anterior temporal lobe (ATL) highlights the critical role of this area for word comprehension in semantic variant primary progressive aphasia (svPPA). However, the assumption that peak atrophy sites are specific markers of dysfunctional brain sites, and therefore reliable variables for clinicopathologic correlations, has not been rigorously tested. Using structural MRI and FDG-PET, we assessed atrophy and hypometabolism in 32 individuals with PPA (11 svPPA) and 10 healthy controls. Word comprehension was measured using the Peabody Picture Vocabulary Test. Voxel-based morphometry and standardized uptake value ratios were used to generate atrophy and hypometabolism maps. Two-sample t-tests compared svPPA and controls, and regression analyses evaluated the relationship between imaging metrics and word comprehension. Findings revealed significant bilateral ATL atrophy and hypometabolism (left > right). Structural and metabolic measures were independently associated with impaired comprehension. There was substantial overlap between atrophy and hypometabolism within the ATLs, with dysfunction extending into posterior temporal regions. However, there was no evidence of peak hypometabolism in traditional Wernicke's area. Degeneration - both anatomical and metabolic - of the ATL serves as a robust predictor of comprehension impairment, highlighting its role a critical locus for word comprehension.

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.

Alzheimer's disease (AD) is the leading cause of cognitive decline, whereas primary familial brain calcification (PFBC) is rare. We analyzed the clinical and radiological findings of a 75-year-old man who presented with memory impairment. Brain imaging revealed bilateral basal ganglia calcification, severe white matter hyperintensities, and significant amyloid deposition. Genetic analysis identified a heterozygous c.1711 G > A variant in SLC20A2 and a heterozygous c.166 G > A variant in PSEN2. The patient was diagnosed with genetically confirmed PFBC due to a likely pathogenic SLC20A2 variant, together with AD biology. The PSEN2 variant was classified as a variant of uncertain significance.

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.

We summarize and review the clinical and genetic characteristics of four adolescents with Hyperhomocysteinemia. Four cases of adolescent-onset Hyperhomocysteinemia diagnosed at Qingdao University Affiliated Hospital were selected as research subjects. Clinical data, whole exome sequencing and Sanger sequencing information of the patients were collected, and gene variation analysis and literature review were conducted. The pathogenic variants carried by the four patients were MAT1A c.895C>T(p.Arg299Cys), CBS c.374G>A(p.Arg125Glu), CBS c.785C>T(p.Thr262Met), and MMACHC c.482G>A(p.Arg161Glu) and c.658_660del(p.Lys220del) along with other site mutations. There were three cases with epileptic seizures as initial manifestation, three cases with varying degrees of intellectual disability, two cases with lens dislocation, one case with cervical artery occlusion leading to cerebral infarction, and one case with extensive white matter lesions. Four patients showed relief of symptoms after treatment with vitamin B and necessary antiepileptic drugs. We combined the cases and relevant literature to retrospectively analyze the characteristics and treatment related to the disease. The onset of Hyperhomocysteinemia in adolescents is early, and the clinical manifestations are broad and atypical. At the same time, it has a significant impact on the growth and development of adolescents and can affect future life for a long time. Early detection and diagnosis have an important impact on prognosis.

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 score_postop196/440). 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 score_Discharge291/440; AAT score_1 Month343/440; AAT score_3 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.