Existing evidence suggests that developmental prosopagnosia (DP) is a surprisingly prevalent condition, with some individuals describing lifelong difficulties with facial identity recognition. Together with case reports of multiple family members with the condition, this evidence suggests that DP is inherited in at least some instances. Here, we offer some novel case series that further support the heritability of the condition. First, we describe five adult siblings who presented to our lab with symptoms of DP. Second, for the first known time in the literature, we describe a pair of adult identical twins who contacted us in the belief that they both experience DP. The condition was confirmed in three of the five siblings (with minor symptoms observed in the remaining two) and in both twins. Supplementary assessments suggested that all individuals also experienced some degree of difficulty with facial identity perception, but that object recognition was preserved. These findings bolster the evidence supporting the heritability of DP and suggest that it can be a specific impairment in some cases.
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http://dx.doi.org/10.3390/brainsci14010049 | DOI Listing |
Neurocase
December 2024
First Department of Neurology, Eginition University Hospital, School of Medicine, National and Kapodistrian University of Athens, NKUA, Athens, Greece.
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.
View Article and Find Full Text PDFCureus
November 2024
Neurology, National Institute of Neurology and Neurosurgery "Dr. Manuel Velasco Suárez", Mexico City, MEX.
Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis stands as the most prevalent form of autoimmune encephalitis, primarily affecting young patients and exhibiting a higher incidence among females. Patients frequently present with psychiatric symptoms or cognitive impairments such as speech disturbances, decreased level of consciousness, autonomic dysfunction, as well as seizures, dyskinesias, and catatonia due to overactivation of extrasynaptic NMDA receptors. To date, there is no gold standard for the diagnosis of catatonia; however, a few rating scales exist to measure this phenomenon, with the Bush Francis Catatonia Rating Scale being the most commonly used due to its validity, reliability, and ease of application.
View Article and Find Full Text PDFNeurology
January 2025
Sant Pau Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau (IIB Sant Pau), Universitat Autònoma de Barcelona.
Objectives: Atypical variants are rare in genetically determined Alzheimer disease (AD). This case describes a patient with Down syndrome-associated Alzheimer disease (DSAD) who presented with symptoms of posterior cortical atrophy (PCA).
Methods: We conducted a clinical and cognitive evaluation, genotyping, determination of AD biomarkers in CSF, structural MRI, [18F]FDG-PET, and tau-PET ([18F]PI2620) scans.
Ann Indian Acad Neurol
November 2024
Department of Neurology, University of Texas Health Science Centre, Houston, Texas, USA.
Cortex
November 2024
Department of Psychology, University of the Fraser Valley, Abbotsford, Canada.
Current models of face perception and the face-processing network suggest that acquired prosopagnosia may not be a single disorder but rather a family of variants differing in mechanism. It has been proposed that tests of face perception and face imagery can probe component processes to support apperceptive, associative, and amnestic distinctions. However, validating this proposal is hampered by the rarity of this condition.
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