Cargando…

Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings

Background. Parkinson's disease (PD) is mostly characterized by alpha-synuclein (SNCA) aggregation and loss of nigrostriatal dopamine-containing neurons. In this study a novel SNCA multiplication is described in two siblings affected by severe parkinsonism featuring early onset dyskinesia, psyc...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ferese, Rosangela, Modugno, Nicola, Campopiano, Rosa, Santilli, Marco, Zampatti, Stefania, Giardina, Emiliano, Nardone, Annamaria, Postorivo, Diana, Fornai, Francesco, Novelli, Giuseppe, Romoli, Edoardo, Ruggieri, Stefano, Gambardella, Stefano
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4655296/ https://www.ncbi.nlm.nih.gov/pubmed/26635992 http://dx.doi.org/10.1155/2015/546462

Ejemplares similares

Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease
por: Ferese, Rosangela, et al.
Publicado: (2018)

A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset
por: Campopiano, Rosa, et al.
Publicado: (2020)

Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease
por: Gambardella, Stefano, et al.
Publicado: (2018)

Erratum to “Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease”
por: Gambardella, Stefano, et al.
Publicado: (2018)

A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy
por: Zampatti, Stefania, et al.
Publicado: (2023)

A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers
por: Campopiano, Rosa, et al.
Publicado: (2021)

Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants
por: Ferese, Rosangela, et al.
Publicado: (2021)

Vacuolar Protein Sorting Genes in Parkinson's Disease: A Re-appraisal of Mutations Detection Rate and Neurobiology of Disease
por: Gambardella, Stefano, et al.
Publicado: (2016)

C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies
por: Zampatti, Stefania, et al.
Publicado: (2022)

ccf-mtDNA as a Potential Link Between the Brain and Immune System in Neuro-Immunological Disorders
por: Gambardella, Stefano, et al.
Publicado: (2019)

A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4
por: Campopiano, Rosa, et al.
Publicado: (2020)

An attempt to dissect a peripheral marker based on cell pathology in Parkinson's disease
por: Biagioni, Francesca, et al.
Publicado: (2021)

The Monoamine Brainstem Reticular Formation as a Paradigm for Re-Defining Various Phenotypes of Parkinson’s Disease Owing Genetic and Anatomical Specificity
por: Gambardella, Stefano, et al.
Publicado: (2017)

Modeling native and seeded Synuclein aggregation and related cellular dysfunctions in dopaminergic neurons derived by a new set of isogenic iPSC lines with SNCA multiplications
por: Iannielli, Angelo, et al.
Publicado: (2022)

Corticosterone Upregulates Gene and Protein Expression of Catecholamine Markers in Organotypic Brainstem Cultures
por: Busceti, Carla L., et al.
Publicado: (2019)

Dissecting Molecular Features of Gliomas: Genetic Loci and Validated Biomarkers
por: Arcella, Antonietta, et al.
Publicado: (2020)

Rapamycin Ameliorates Defects in Mitochondrial Fission and Mitophagy in Glioblastoma Cells
por: Lenzi, Paola, et al.
Publicado: (2021)

Quantitative Ultrastructural Morphometry and Gene Expression of mTOR-Related Mitochondriogenesis within Glioblastoma Cells
por: Ferese, Rosangela, et al.
Publicado: (2020)

The Future of Pharmacogenomics Requires New Discoveries and Innovative Education
por: Giardina, Emiliano, et al.
Publicado: (2022)

The Pharmacogenomic HLA Biomarker Associated to Adverse Abacavir Reactions: Comparative Analysis of Different Genotyping Methods
por: Stocchi, Laura, et al.
Publicado: (2012)

Genetic Counselling Improves the Molecular Characterisation of Dementing Disorders
por: Zampatti, Stefania, et al.
Publicado: (2021)

Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01
por: Cascella, R, et al.
Publicado: (2015)

The Genetics and the Genomics of Primary Congenital Glaucoma
por: Cascella, Raffaella, et al.
Publicado: (2015)

Rapamycin promotes differentiation increasing βIII-tubulin, NeuN, and NeuroD while suppressing nestin expression in glioblastoma cells
por: Ferrucci, Michela, et al.
Publicado: (2017)

Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report
por: Graziani, Ludovico, et al.
Publicado: (2023)

The BDNF Val66Met Polymorphism (rs6265) Modulates Inflammation and Neurodegeneration in the Early Phases of Multiple Sclerosis
por: Dolcetti, Ettore, et al.
Publicado: (2022)

The SNCA-Rep1 Polymorphic Locus: Association with the Risk of Parkinson’s Disease and SNCA Gene Methylation
por: Iakovenko, E. V., et al.
Publicado: (2020)

SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population
por: Trotta, Luca, et al.
Publicado: (2012)

Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications
por: Strafella, Claudia, et al.
Publicado: (2020)

SNCA-AS1 in aging and Parkinson’s disease
por: Carelli, Stephana, et al.
Publicado: (2022)

Metal Exposure and SNCA rs356219 Polymorphism Associated With Parkinson Disease and Parkinsonism
por: Lucchini, Roberto G., et al.
Publicado: (2020)

Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease
por: Ajiri, Ramona, et al.
Publicado: (2022)

Translational evidence for lithium-induced brain plasticity and neuroprotection in the treatment of neuropsychiatric disorders
por: Puglisi-Allegra, Stefano, et al.
Publicado: (2021)

Autosomal recessive spastic ataxia of charlevoix-saguenay: Findings from MRI in two adult Italian siblings
por: Pensabene, Maria Claudia, et al.
Publicado: (2020)

The Autophagy-Related Organelle Autophagoproteasome Is Suppressed within Ischemic Penumbra
por: Biagioni, Francesca, et al.
Publicado: (2021)

Analysis of Genetic and Non-genetic Predictors of Levodopa Induced Dyskinesia in Parkinson’s Disease
por: Tirozzi, Alfonsina, et al.
Publicado: (2021)

Novel BEST1 mutation in autosomal recessive bestrophinopathy in Japanese siblings
por: Yamada, Rika, et al.
Publicado: (2021)

Whole genome amplification and real-time PCR in forensic casework
por: Giardina, Emiliano, et al.
Publicado: (2009)

Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation
por: Kiely, Aoife P., et al.
Publicado: (2015)

Variants in the SNCA Locus Are Associated With the Progression of Parkinson's Disease
por: Luo, Ningdi, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_edne2ql8c0drrg8241u530m9cv