Diagnosing frontal variant Alzheimer's disease (fvAD) is difficult and could be even more difficult when amyloid-beta (Aβ) PET retention is low. A 63-year-old woman presenting with a 3-year history of apathy and memory impairment showed executive dysfunction, memory impairment, and severe bilateral frontotemporal atrophy on MRI. Aβ PET showed only equivocal findings in the right frontal lobe and was negative. However, CSF showed a severely decreased Aβ42/40 ratio and increased phospho-tau181. AD-tau-specific (18F)-MK6240 PET revealed increased tracer retention predominantly in the bilateral frontal lobes, confirming the fvAD diagnosis. (18F)-MK6240 PET can be valuable in resolving diagnostic uncertainties in atypical patients with low Aβ retention.
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http://dx.doi.org/10.1002/acn3.70025 | DOI Listing |
Learn Mem
March 2025
Neuroscience Program, Lafayette College, Easton, Pennsylvania 18042, USA
Apolipoprotein E (ApoE) is a protein that is important for lipid storage, transport, and metabolism. gene variants are associated with Alzheimer's disease, as well as attentional function in healthy humans. Previous research has shown that transcription is increased following stimulation of the pathway between the locus coeruleus (LC) and frontal cortex (FC) in mice.
View Article and Find Full Text PDFZh Nevrol Psikhiatr Im S S Korsakova
March 2025
Research Institute of Medical Genetics - Tomsk National Research Medical Center, Tomsk, Russia.
encodes the heavy chain of dynein 1, a protein that plays a critical role in intracellular transport and is also involved in neurogenesis, bipolar spindle apparatus formation, and interaction with certain regulatory proteins. Many variants of the gene are described in various neuromuscular, psychoneurological, congenital abnormalities, and malignancies. In this clinical case, the correlation of clinical manifestations with molecular genetic changes of the gene was evaluated.
View Article and Find Full Text PDFAnn Clin Transl Neurol
March 2025
Department of Neurology, Tokyo Metropolitan Institute for Geriatrics and Gerontology, Tokyo, Japan.
Diagnosing frontal variant Alzheimer's disease (fvAD) is difficult and could be even more difficult when amyloid-beta (Aβ) PET retention is low. A 63-year-old woman presenting with a 3-year history of apathy and memory impairment showed executive dysfunction, memory impairment, and severe bilateral frontotemporal atrophy on MRI. Aβ PET showed only equivocal findings in the right frontal lobe and was negative.
View Article and Find Full Text PDFGene
March 2025
Department of Engineering for Innovation Medicine, University of Verona, Verona, Italy.
Alexander disease (AxD), an autosomal dominant leukodystrophy, is caused by mutations in the GFAP, the gene encoding glial fibrillary acidic protein (GFAP). The disease, classified by age of onset into infantile, juvenile, and adult forms, is characterized by white matter degeneration and astrocytic inclusions called Rosenthal fibers. A patient underwent clinical, radiological, and molecular analyses to confirm a suspected diagnosis of AxD.
View Article and Find Full Text PDFActa Neuropathol
March 2025
Department of Neuropathology, Partner of the European Reference Network (ERN) EpiCARE, Universitätsklinikum Erlangen, Friedrich-Alexander Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany.
Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE) is a recently described disease entity primarily affecting young children with drug-resistant epilepsy, mainly affecting the frontal lobe. The condition is histopathologically defined by focal lesions with patchy areas of increased oligodendroglial cell density at the grey-white matter boundary and heterotopic neurons in the white matter. Approximately half of the individuals with MOGHE carry brain somatic variants in the SLC35A2 gene, which affects the UDP-galactose transporter and thus sphingolipid glycosylation.
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