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Astrocytes in Primary Familial Brain Calcification (PFBC): Emphasis on the Importance of Induced Pluripotent Stem Cell-Derived Human Astrocyte Models.
Adv Exp Med Biol
January 2025
Department of Biological Sciences, Middle East Technical University, Ankara, Türkiye.
Primary familial brain calcification (PFBC) is a rare, progressive central nervous system (CNS) disorder without a cure, and the current treatment methodologies primarily aim to relieve neurological and psychiatric symptoms of the patients. The disease is characterized by abnormal bilateral calcifications in the brain, however, our mechanistic understanding of the biology of the disease is still limited. Determining the roles of the specific cell types and molecular mechanisms involved in the pathophysiological processes of the disease is of great importance for the development of novel and effective treatment methodologies.
View Article and Find Full Text PDFA Homozygous Variant in NAA60 Is Associated with Primary Familial Brain Calcification.
Mov Disord
December 2024
Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Background: Primary familial brain calcification (PFBC) is a monogenic disorder characterized by bilateral calcifications in the brain. The genetic basis remains unknown in over half of the PFBC patients, indicating the existence of additional novel causative genes. NAA60 was a recently reported novel causative gene for PFBC.
View Article and Find Full Text PDFAntisense 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.
Primary familial brain calcification presenting with parkinsonism and motor complications caused by a novel variant: a case report.
Front Neurol
July 2024
Institute of Neurology, Anhui University of Chinese Medicine, Hefei, China.
Primary familial brain calcification (PFBC), also known as Fahr's disease, is a central nervous system calcium deposition disorder with symmetrical basal ganglia calcification. Most PFBC cases are caused by gene variant. We report a Chinese female patient with PFBC and dopamine-responsive parkinsonism who had motor fluctuations and dyskinesia and recovered effectively after symptomatic medication adjustment.
View Article and Find Full Text PDFNovel findings in a Swedish primary familial brain calcification cohort.
J Neurol Sci
May 2024
Department of Neurology, Karolinska University Hospital, Hälsovägen 13 R52, 141 86 Stockholm, Sweden; Department of Clinical Neuroscience, Karolinska Institutet, Nobels väg 6, 171 77 Stockholm, Sweden. Electronic address:
Introduction: Brain calcifications are frequent findings on imaging. In a small proportion of cases, these calcifications are associated with pathogenic gene variants, hence termed primary familial brain calcification (PFBC). The clinical penetrance is incomplete and phenotypic variability is substantial.
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