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Objective: To assess the [F]flortaucipir binding distribution across mutations in presymptomatic and symptomatic carriers.
Methods: We compared regional [F]flortaucipir binding potential (BP) derived from a 130-minute dynamic [F]flortaucipir PET scan in 9 (pre)symptomatic mutation carriers (4 with P301L [1 symptomatic], 2 with R406W [1 symptomatic], 1 presymptomatic L315R, 1 presymptomatic S320F, and 1 symptomatic G272V carrier) with 30 cognitively normal controls and 52 patients with Alzheimer disease.
Results: [F]Flortaucipir BP images showed overall highest binding in the symptomatic carriers. This was most pronounced in the symptomatic R406W carrier in whom tau binding exceeded the normal control range in the anterior cingulate cortex, insula, amygdala, temporal, parietal, and frontal lobe. Elevated medial temporal lobe BP was observed in a presymptomatic R406W carrier. The single symptomatic carrier and 1 of the 3 presymptomatic P301L carriers showed elevated [F]flortaucipir BP in the insula, parietal, and frontal lobe compared to controls. The symptomatic G272V carrier exhibited a widespread elevated cortical BP, with at neuropathologic examination a combination of 3R pathology and encephalitis. The L315R presymptomatic mutation carrier showed higher frontal BP compared to controls. The BP values of the S320F presymptomatic mutation carrier fell within the range of controls.
Conclusion: Presymptomatic mutation carriers already showed subtle elevated tau binding, whereas symptomatic mutation carriers showed a more marked increase in [F]flortaucipir BP. Tau deposition was most pronounced in R406W (pre)symptomatic mutation carriers, which is associated with both 3R and 4R tau accumulation. Thus, [F]flortaucipir may serve as an early biomarker for mutation carriers in mutations that cause 3R/4R tauopathies.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8448551 | PMC |
http://dx.doi.org/10.1212/WNL.0000000000012448 | DOI Listing |
Lancet Neurol
January 2025
Department of Clinical Sciences, Neurosciences, Umeå University, Umeå, Sweden.
Pathogenic variants in the superoxide dismutase 1 (SOD1) gene were the first identified genetic cause of amyotrophic lateral sclerosis (ALS), in 1993. This discovery enabled the development of transgenic rodent models for studying the biology of SOD1 ALS. The understanding that SOD1 ALS is driven by a toxic gain-of-function mutation has led to therapeutic strategies that aim to lower concentrations of SOD1 protein, an endeavour that has been complicated by the phenotypic heterogeneity of SOD1 ALS.
View Article and Find Full Text PDFNeuropediatrics
December 2024
Department of Physiotherapy, King Fahd Specialist Hospital, Dammam, Saudi Arabia.
Spinal muscular atrophy (SMA) is a rare autosomal recessive genetic disease caused by Survival Motor Protein 1 () gene mutations. Classically divided into three types, SMA is characterized by hypotonia, weakness, and tongue fasciculation in the first 6 months of life in type 1, inability to walk and limb weakness in type 2, and failure to run with proximal weakness in type 3 SMA. With the advent of newborn screening, treating presymptomatic patients with Onasemnogene abeparvovec (OA) is the treatment of choice in some centers worldwide.
View Article and Find Full Text PDFFront Neurol
December 2024
Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, United States.
Sturge-Weber syndrome (SWS) is a rare congenital neurovascular disorder that initially presents with a facial port-wine birthmark (PWB) and most commonly associated with a R183Q somatic mosaic mutation in the gene . This mutation is enriched in endothelial cells. Contrast-enhanced magnetic resonance imaging (MRI) diagnoses brain abnormalities including leptomeningeal vascular malformation, an enlarged choroid plexus, and abnormal cortical and subcortical blood vessels.
View Article and Find Full Text PDFJ Neurol
December 2024
Department of Neurology and Alzheimer Centre, Erasmus MC University Medical Centre (Erasmus MC), Dr. Molenwaterplein 40, 3015 CE, Rotterdam, The Netherlands.
Background: Frontotemporal lobar degeneration (FTLD) is one of the leading causes of early onset dementia. Pathogenic variants in GRN have been reported to cause 5-25% of familial and 5% of sporadic FTLD. Here, we present two novel, likely pathogenic variants in GRN.
View Article and Find Full Text PDFJ Neurol
December 2024
Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, Tuebingen University Hospital, Hoppe-Seyler-Str. 3, 72076, Tuebingen, Germany.
Introduction: While ≥ 40 CAG repeat expansions in HTT present a well-established cause of Huntington's disease (HD), an enrichment of HTT repeat expansions was recently reported also in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), including FTD/ALS patients with additional HD neuropathology. This raises the question whether the phenotypic spectrum of HTT expansions can be extended to ALS and FTD, and whether HTT should be considered as a new causative gene of FTD/ALS. If HTT repeat expansions were indeed systematically related to FTD/ALS, one would expect an increased frequency of HTT carriers in FTD/ALS, who can clinically/neuropathologically not be explained better than by the presence of the HTT repeat expansions.
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