Neurocase最新文献

Amyloid-lowering therapy via administration of monoclonal antibodies against amyloid beta has been previously associated with the formation of cerebral edema and/or microhemorrhage. These changes are often picked up on MRI and referred to as amyloid-related imaging abnormalities, or ARIA. Cerebral ischemia has not been systematically reported in clinical trials involving amyloid-lowering therapy but has been reported in case reports. Here we describe an additional case of a patient with Alzheimer's Disease treated with the amyloid-lowering drug Lecanemab who developed both ARIA-H and ARIA-E, as well as multiple asymptomatic ischemic infarctions. Extensive workup did not reveal another clear cause for infarction. These infarcts, in conjunction with previous reports of ischemic infarction in the setting of anti-amyloid therapy, suggest that amyloid-lowering therapy may predispose individuals to both hemorrhagic and ischemic infarction. This result is discussed in the context of microvascular pathology known to occur in the setting of Alzheimer's Disease.

Myelin oligodendrocyte glycoprotein antibody-associated disease (MOG AD) is a rare autoimmune demyelinating condition typically presenting with optic neuritis, transverse myelitis, or encephalitis. Its occurrence in immunocompromised individuals, particularly those with human immunodeficiency virus (HIV), is rare and presents unique diagnostic and therapeutic challenges. We report the case of a 70-year-old HIV-positive man who developed alexia without agraphia following treatment for opportunistic infections, including Pneumocystis jirovecii pneumonia and cytomegalovirus. Brain MRI revealed a non-enhancing hyperintense lesion in the medial left occipital lobe extending into the splenium of the corpus callosum. MOG-IgG was positive at a titer of 1:30, while aquaporin-4 antibodies and paraneoplastic panels were negative. Neuropsychological assessment confirmed selective impairment in visual word recognition with preserved writing ability, consistent with alexia without agraphia. The patient was treated with intravenous immunoglobulin (IVIG) without corticosteroids due to immunosuppressive concerns and demonstrated approximately 40% improvement in visual word recognition accuracy. At six months follow-up, no relapse was observed, and reading ability remained stable. This case represents the first reported instance of MOGAD presenting with alexia without agraphia in an HIV-positive individual, underscoring the importance of considering autoimmune demyelination in immunosuppressed patients with focal neurological deficits.

Fahr syndrome is a rare neurological condition characterized by idiopathic bilateral basal ganglia calcifications. It often presents psychiatric symptoms that may precede neurological signs, especially in adolescents, making early diagnosis a challenge. We report the case of a 17-year-old male who exhibited treatment-resistant psychotic symptoms including aggression, paranoia, and auditory hallucinations beginning at age 12. Extensive bilateral calcifications in the basal ganglia and subcortical regions were identified via cranial CT, with no evidence of metabolic or infectious etiology, confirming the diagnosis of idiopathic Fahr syndrome. Treatment with clozapine and brexpiprazole led to rapid and sustained symptom remission. This case emphasizes the importance of neuroimaging in adolescents with atypical psychiatric presentations and suggests that combined antipsychotic therapy may be effective in managing Fahr syndrome-related psychosis.

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.

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.

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.

A 69-year-old Japanese man presented with prosopagnosia, visual form agnosia for line drawings of objects, as well as alexia and agraphia for Kanji after infarction in the right fusiform gyrus and occipitotemporal lobe. In contrast, the verbalization of real objects and line drawings of actions was good. Visual recognition disorders that affect the identification of faces, line drawings, and Kanji suggest impaired processing related to multielement integration. Real objects and line drawings of actions, which are easy to process as visual units and tend to evoke kinesthetic images, were less affected after damage in the right occipital-inferior temporal pathway, suggesting that cognitive processing is possible via the dorsal pathway.

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.