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| http://dx.doi.org/10.3389/fnhum.2013.00420 | DOI Listing |
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Antisense oligonucleotides enhance SLC20A2 expression and suppress brain calcification in a humanized mouse model.
Neuron
October 2024
Department of Neurology, the First Affiliated Hospital, Institute of Neuroscience, Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou 350005, China; Department of Neurology, National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350212, China. Electronic address:
Article Synopsis
- Primary familial brain calcification (PFBC) is a genetic neurological disorder with no current effective treatment, linked to mutations in the SLC20A2 gene.
- Researchers identified five new genetic variants in the SLC20A2 gene that disrupt normal splicing of its pre-mRNA, leading to dysfunctional protein production.
- The use of splice-switching antisense oligonucleotides (ASOs) not only helped restore functional SLC20A2 expression in affected cells but also showed promise in reducing brain calcification and controlling phosphorus levels in animal models, highlighting a potential therapeutic approach for PFBC.
Non-Motor Symptoms in Primary Familial Brain Calcification.
J Clin Med
June 2024
Parkinson and Movement Disorders Unit, Centre for Rare Neurological Diseases (ERN-RND), Department of Neuroscience, University of Padova, 35128 Padova, Italy.
Article Synopsis
- - Primary Familial Brain Calcification (PFBC) is a rare condition mainly affecting adults, characterized by abnormal calcium deposits in the brain, leading to movement disorders like parkinsonism and various non-motor symptoms that need further exploration.
- - In a study of 50 PFBC patients, genetic testing revealed mutations in some patients and highlighted symptoms such as headaches, anxiety, depression, sleep disturbances, and constipation, with cognitive issues found in more than half of the cohort.
- - The findings suggest that non-motor symptoms are common among PFBC patients and emphasize the importance of thorough assessments to address the diverse needs of these individuals.
Idiopathic young-onset Fahr's disease with schizophrenia-like presentation: a case report.
Front Psychiatry
May 2024
Department of Psychiatry, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
This case report describes an exceptionally rare case in which a prior diagnosis of schizophrenia was later determined to be early-onset Fahr's disease, linked to a genetic mutation in the SLC20A2 gene. Initially, the patient exhibited symptoms resembling schizophrenia, including aggression and hostility, and was highly susceptible to medication side effects such as restlessness and Parkinsonism. Despite maintaining independent activities of daily living, his neurological examinations revealed hidden weakness on the left side.
View Article and Find Full Text PDFBiallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Nat Commun
March 2024
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous disorder currently linked to variants in six different genes, but most patients remain genetically undiagnosed. Here, we identify biallelic NAA60 variants in ten individuals from seven families with autosomal recessive PFBC.
View Article and Find Full Text PDFSlc20a1 and Slc20a2 regulate neuronal plasticity and cognition independently of their phosphate transport ability.
Cell Death Dis
January 2024
Université Paris Cité, INSERM UMR-S1151, CNRS UMR-S8253, Institut Necker Enfants Malades, Team 8, F-75015, Paris, France.
In recent years, primary familial brain calcification (PFBC), a rare neurological disease characterized by a wide spectrum of cognitive disorders, has been associated to mutations in the sodium (Na)-Phosphate (Pi) co-transporter SLC20A2. However, the functional roles of the Na-Pi co-transporters in the brain remain still largely elusive. Here we show that Slc20a1 (PiT-1) and Slc20a2 (PiT-2) are the most abundant Na-Pi co-transporters expressed in the brain and are involved in the control of hippocampal-dependent learning and memory.
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