Neurocase最新文献

The majority of genetic Primary progressive aphasia (PPA) patients harbor mutations in the granulin (GRN) gene. The present case showed impaired performances in single-word retrieval in spontaneous speech and naming, and repetition. Head MRI revealed marked lateral atrophy in the left parietal cortex. A diagnosis of logopenic variant PPA (lvPPA) was established. Genetic analysis showed a heterozygous 10-bp frameshift deletion in exon 4 of the GRN gene (NM_002087.4), leading to transformation of cysteine into alanine at amino acid 92 and creation of a premature stop codon at position 161. This patient represented a rare case of GRN-associated lvPPA. A new mutation site was detected in exon 4 of GRN gene.

Purpose: The current study aimed to examine the linguistic characteristics of Korean-speaking individuals diagnosed with primary progressive aphasia(PPA).

Methods: Two individuals with agrammatic/non-fluent variants of nfvPPA and two with semantic variants of svPPA participated in this study. Picture description tasks were used to collect connected speech samples. Analysis focused on linguistic variables, including quantitative(number of utterances, words, nouns, and verbs), syntactic(mean length of utterance in morphemes, case markers per utterance, predicates per utterance), and semantic variables(correct information units, verb types). Additionally, participants completed two types of confrontation naming tasks.

Results: The nfvPPA group exhibited fewer linguistic units overall compared to the svPPA group, with noun-verb dissociation apparent only in the nfvPPA group. The svPPA group showed poorer performance in content-related linguistic variables. A notable clinical symptom specific to Korean, case marker deficits, was observed in the nfvPPA group.

Discussion: The study identified distinct linguistic patterns associated with the subtype of PPA in Korean speakers. The evaluation and interpretation of Korean-specific linguistic variables are crucial for classifying Korean-speaking individuals with PPA. Understanding these variables can enhance our comprehension of the unique linguistic deficits present in Korean PPA, particularly in relation to confrontation naming tasks and their implications for diagnosis and classification.

A 75-year-old Chinese American man presented to behavioral neurology clinic for a second opinion of dementia with Lewy body disease (DLB). The clinical manifestations met the criteria for a probable DLB diagnosis. Yet, in-depth evaluation unveiled clinical history, family history, and neuroimaging evidences that suggested a diagnosis of behavioral variant frontotemporal dementia (FTD). A heterozygous pathogenic variant in the microtubule-associated protein Tau (MAPT) was identified through genetic testing and confirmed the diagnosis of autosomal dominant MAPT-related FTD. This case is the first reported instance of MAPT-related FTD presenting with well-formed visual hallucinations in an elderly Chinese American.

A 59-year-old male with severe treatment-resistant OCD achieved sustained symptom improvement after discontinuing deep brain stimulation (DBS) for over four years. Despite partial relief with ventral capsule/ventral striatum (VC/VS) DBS, complications led to device removal in 2018. Remarkably, the patient remained largely symptom-free, suggesting neuroplasticity changes in dysfunctional neurocircuits. This rare case highlights DBS's role in psychiatry, emphasizing the need for tailored surgical strategies and long-term follow-ups to optimize outcomes and understand DBS mechanisms.

This case study explores the psychological and neuropsychological traits of a 55-year-old woman, D.R., who has Cotard's, believing her torso has dissolved and food bypasses her legs. Her delusion emerged amid major depressive disorder with psychotic features, following prodromal symptoms like body distortion and somatosensory abnormalities. A neuropsychological assessment during remission revealed low-level visual perceptual deficits in an otherwise intact cognitive profile. Subtle distortions in bodily signals and specific attribution styles were identified as vulnerability factors, suggesting that the delusion may emerge when already strained information processing systems are further challenged. This relates to models of delusion formation.

This study aims to reveal the effect of visuoperceptual rehabilitation combined with neuromodulation on visual impairment recovery in chronic cortical blindness. A 71-year-old patient with cortical blindness was assessed using perimetry, pattern electroretinogram (pERG), Canadian Occupational Performance Measurement (COPM), and Montreal Cognitive Assessment (MoCA) at baseline and after treatment. After 12 rTMS sessions and 50 visual perceptual rehabilitation sessions, perimetry, pERG, COPM, and MoCA significantly improved the visual field and daily functioning. Both COPM-MoCA scores exceeded clinical significance. The results indicate that combining vision therapy with rTMS may improve vision field, daily function, and satisfaction in a chronic blindness case.

This case report presents the story of Mr. S, a professional orchestral musician with declining musical sight-reading ability, followed by progressive visuospatial and language deficits. Our novel musical assessment battery revealed deficits in music-reading (musical alexia) and music-writing (musical agraphia), with spared auditory perception and expression. Taken with neuropsychological testing, clinical history, and imaging, we conclude that his symptoms evolved from musical alexia to a multidomain, neurodegenerative process centered in the dominant inferior parietal lobe and temporoparietal junction. We suspect a primary TDP-opathy with comorbid preclinical Alzheimer's disease. Mr. S's case highlights musical symptoms as meaningful, early indicators of neurodegeneration.

Niemann-Pick Type-C (NPC) disease, an autosomal recessive lysosomal storage disorder, is associated with a spectrum of neuropsychiatric manifestations, including catatonia, which may not respond to conventional treatment. Here we report the case of a patient with adult-type NPC disease who developed catatonia and experienced recurrent catatonic episodes after the administration of antipsychotics required to treat active psychotic symptoms. Despite unsuccessful attempts with lorazepam, clozapine, and memantine to treat the catatonic symptoms, the patient showed improvement with electroconvulsive therapy (ECT). Catatonia recurred shortly after ECT discontinuation and improved with resuming ECT and adding lorazepam. However, catatonia recurred when the ECT frequency was reduced. We were able to resolve the catatonia with a combination of ECT and lorazepam. However, when we reduced the frequency of ECT sessions, the catatonia recurred despite continued lorazepam treatment. Remarkably, the addition of lamotrigine to the patient's treatment resulted in complete remission with no further recurrence of catatonia for 8 months. Our case highlights lamotrigine's mood-stabilizing effect and possible anti-NMDA effect in treating and preventing recurrent catatonia.

A 12-year-old adolescent diagnosed with Anti-N-Methyl-D-Aspartate receptor encephalitis (ANMDAE) with catatonia was successfully treated with a course of zolpidem after inadequate response and lack of tolerance to first-line treatments, including benzodiazepines and electroconvulsive therapy (ECT). ANMDAE is an immune-mediated disease comprising a complex neuro-psychiatric clinical presentation that can range from memory deficits, seizures, and psychosis, to malignant catatonia. Catatonia is a psychomotor disorder that can increase the risk of medical complications. Current catatonia treatment guidelines include the use of benzodiazepines followed by ECT. Benzodiazepines are highly effective to treat catatonia in adults, with lower remission rates in children and adolescents. However, there are no defined guidelines if a patient fails to respond to the aforementioned treatments. Other treatment options may include zolpidem. To our knowledge, there is little literature on the treatment of catatonia with zolpidem in adolescents with underlying neurological conditions such as ANMDAE. This brief report highlights the importance of early recognition and treatment of ANMDAE with catatonia. It also underscores the lack of treatment guidelines for adolescents treated with immunotherapy presenting catatonia refractory to treatment with benzodiazepines and ECT. Zolpidem may be an alternative treatment for catatonia for patients not responding or tolerating benzodiazepines or ECT.