Morphology of the corpus callosum is a useful biomarker of neuronal loss, as different patterns of cortical atrophy help to distinguish between dementias such as Alzheimer's disease (AD) and frontotemporal lobar degeneration (FTLD). We used a sophisticated morphometric analysis of the corpus callosum in FTLD subtypes including frontotemporal dementia (FTD), semantic dementia (SD), and progressive non-fluent aphasia (PNFA), and compared them to AD patients and 27 matched controls. FTLD patient subgroups diverged in their callosal morphology profiles, with FTD patients showing marked widespread differences, PNFA patients with differences largely in the anterior half of the callosum, and SD patients differences in a small segment of the genu. AD patients showed differences in predominantly posterior callosal regions. This study is consistent with our previous findings showing significant cortical and subcortical regional atrophy across FTLD subtypes, and suggests that callosal atrophy patterns differentiate AD from FTLD, and FTLD subtypes.
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http://dx.doi.org/10.3233/JAD-131853 | DOI Listing |
Eur J Pediatr
December 2024
Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey.
Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.
View Article and Find Full Text PDFACS Chem Neurosci
December 2024
Department of Radiology, The Second Affiliated Hospital, Zhejiang University of Medicine, Hangzhou 310009, China.
Clin Radiol
November 2024
Department of Radiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Aim: This study aimed to summarise and analyse the magnetic resonance imaging (MRI) characteristics of patients with myelin oligodendrocyte glycoprotein-immunoglobulin G-associated disease (MOGAD), and to enhance the accuracy of disease diagnosis and advance scientific research.
Materials And Methods: A retrospective collection of clinical data from 103 patients with MOGAD was conducted. The distribution and signal characteristics of intracranial lesions on MRI were analysed.
Front Immunol
December 2024
Department of Radiology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong, China.
Objective: Autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A) is a novel steroid sensitive autoimmune disease, without a diagnostic consensus. The purpose of this study was to improve early GFAP-A diagnosis by increasing awareness of key clinical characteristics and imaging manifestations.
Methods: Medical records of 13 patients with anti-GFAP antibodies in serum or cerebrospinal fluid (CSF) were reviewed for cross-sectional and longitudinal analysis of clinical and magnetic resonance imaging (MRI) findings.
Neurol Genet
February 2025
Department of Neuroscience, Mayo Clinic, Jacksonville, FL.
Objectives: In this study, we describe a 54-year-old Indian woman who presented with clinical features of Kufs syndrome A (KSA) and Kufs syndrome B (KSB), as well as neuropathologic and genetic findings consistent with neuronal ceroid lipofuscinosis type 13 (CLN13). Subsequently, we review the clinicopathologic features of 20 patients with CLN13 reported in the literature.
Methods: Data and imaging were obtained from the patient's medical records.
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