Neurocase最新文献

Inner dialogue and inner speech are normal systems of cerebral intrapersonal communication, crucial to self-awareness. Lesions affecting the cerebral network involved in these systems have been associated with the occurrence of Auditory Verbal Hallucinations (AVHs). These are regarde as a continuum phenomenon experienced by healthy, individuals, as well as those with psychiatric disorders. In this paper, two patients with left hemispheric lesions of different pathologies, vascular and tumor, respectively, who during their recovery of motor and sensory functions presented severe deregulation in their inner dialogue. In both cases, the damaged left dominant hemisphere adopted arrogant, demeaning, and abusive inner speech, while the right non-dominant side, which commands the rehabilitation of the lost functions, was subdued and quiet. This abusive unilateral inner dialogue was present until adequate recovery of independent functions was achieved for both patients.

This case series elucidates pathological signs for diagnosis in two patients with Dementia. The first case highlights the term 'Smartphone sign', a novel psychopathology uncovered based on the existing 'TV sign', a rare type of delusional misidentification syndrome (DMS). The second case had symptoms consistent with the 'TV sign'. The possible underlying cause of these signs was hypothesized based on psychopathology, brain region, sensory system, cognition, and environmental factors. Moreover, the treatment outcome in terms of cognition and behavior on low doses of Risperidone and Escitalopram shows promising results and paves the way for the treatment of other DMS.

Absolute pitch (AP) is the ability to identify the pitch of isolated tones without reference to an external pitch. A 21-year-old semi-professional musician with a previous ability for AP developed a left-hemispheric cerebral hemorrhage due to an arteriovenous malformation (AVM). One month after the hemorrhage, she underwent surgery to treat the AVM, resulting in the resolution of her aphasia and right upper limb clumsiness. However, her AP ability was lost. Before the hemorrhage, she could dictate complex music that she listened to, but afterward, she could no longer identify even a single tone. Neuropsychological assessments revealed a decreased retention span for auditory information, slight impairment of environmental sound and speech processing, and difficulty in understanding the auditory presentation of numbers with more than four digits. Neuromusicological assessments with an established battery of tests revealed impairments of chord and timbre perception, alongside the loss of AP ability. Brain computed tomography conducted 9 months after the hemorrhage revealed low-density areas in the middle longitudinal fasciculus, a region associated with language and auditory processing, including AP perception. To our knowledge, this is the first reported case of a patient with AP loss because of a focal brain lesion.

Mills' syndrome is a rare motor neuron disease characterized by progressive upper motor neuron dysfunction. As the disease advances, there may be manifestations of bulbar involvement, such as dysarthria, dysphagia, and possibly pseudobulbar affect and progression to the contralateral side may occur lately in patients. Since it was first described by Mills in 1900, there are few cases of Mills' syndrome that have been reported in the literature. Here, we present a case, diagnosed as Mills' syndrome, with 5 years of gradually progressive weakness and stiffness in her left-side limbs with recently added difficulties in speech. Neurological examination revealed bilateral asymmetrical upper motor neuron signs, including increased tone, brisk reflexes, and muscle weakness with dysarthria and dysphagia. There was no sensory involvement as well as sphincter dysfunction and her cognition was contact.

Parkinson's disease (PD), a range of neuropsychiatric symptoms, including anhedonia, depression, emotional control, and cognitive deficits, may manifest. This study aims to investigate the impact of anhedonia, emotional regulation, and emotional expression on PD. The research included 68 PD patients and 60 healthy controls. Both groups were assessed using the Hospital Anxiety and Depression Scale (HADS), Emotional Expression Scale (EES), the Short Form of the Difficulties in Emotion Regulation Scale (DERS), and the Clinician-Administered Snaith-Hamilton Pleasure Scale (SHAPS), all administered by a psychiatrist. The PD group was evaluated by a neurology specialist using the Unified Parkinson's Disease Rating Scale (UPDRS). Results showed that the PD group scored significantly higher on the HADS (p < 0.01), DERS (p < 0.01), and SHAPS (p < 0.01), while their EES scores were significantly lower (p < 0.01) compared to the control group. Further analysis indicated that a one-unit increase in anhedonia scores corresponded to a 3.125 unit rise in non-motor symptom scores and a 5.034 unit rise in motor symptom scores. The findings suggest that anhedonia is a strong predictor of both motor and non-motor symptoms in PD. The data indicate that the link between anhedonia and PD exists independently of depression and anxiety, highlighting the necessity of addressing anhedonia as a distinct symptom in PD.

Introduction: Frontotemporal dementia (FTD) is a rare and often hereditary type of dementia, usually developing under the age of 65 years. Mutations in the gene encoding the prion protein (PRNP), typically resulting in Creutzfeldt-Jakob disease, are an extremely rare cause of FTD phenotype. The clinical spectrum of this genetic form of FTD has not been fully elucidated, and no case carrying a PRNP gene mutation has been previously described in the Greek population.

Case report: This case report describes a patient with phenotype of probable behavioral variant frontotemporal dementia (bvFTD) with positive family history of dementia.A mutation in the prion gene (PRNP) is identified as the genetic cause of the behavioral FTD phenotype of the patient.

Conclusion: Heterozygous c.623G>A (p.Arg208His) genotype may be responsible for FTD phenotype. This case shows the necessity of genetic testing for possible mutations in the prion gene in patients with bvFTD and positive family history of dementia.

Mutations in sequestosome 1 (SQSTM1) gene have been associated with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), frontotemporal dementia - ALS (FTD-ALS), and very recently, progressive supranuclear palsy (PSP), paget disease of bone (PDB), distal myopathy with rimmed vacuoles (DMRV), and neurodegenerative disorders in childhood. We present a case of right temporal variant of FTD (rtvFTD) with heterozygous mutation (c.823_824del(p.Ser275Phefs *17)) in SQSTM1 gene.

A 71-year-old man attempted suicide by self-inflicting a cranial injury with a metallic chopstick following a family dispute. CT imaging showed penetration through the frontal sinus and lobe, yet the patient experienced no significant neurological deficits. Mini-craniotomy revealed a dural deficit without active bleeding. The favorable outcome is attributed to anatomical factors and the chopstick's limited penetrative ability. Successful recovery was achieved through minimal debridement and appropriate antibiotic therapy. This case highlights both the dangers of common objects and the importance of precise preoperative imaging and conservative surgical approaches in traumatic brain injuries.

Post-concussion Syndrome (PCS) describes persistent nonspecific neurological, cognitive and emotional symptoms following concussion. A young male presented to a sports concussion clinic with persistent symptoms post-injury. Neurocognitive testing found unexpected severe memory impairment. Blood tests for pituitary function returned low cortisol levels secondary to adrenal insufficiency (AI), which was immediately treated. Post-treatment and improvement of cortisol levels, repeat neuropsychology testing demonstrated reliable improvement in memory and processing speed test scores, commensurate with premorbid expectations. This case highlights the importance of a broad diagnostic approach to formulating unexpected persistent PCS symptoms, screening for AI in PCS cases, and completing neurocognitive testing.