Cargando…

Spastic paraplegia preceding PSEN1‐related familial Alzheimer's disease

INTRODUCTION: We investigated the frequency, neuropathology, and phenotypic characteristics of spastic paraplegia (SP) that precedes dementia in presenilin 1 (PSEN1) related familial Alzheimer's disease (AD). METHODS: We performed whole exome sequencing (WES) in 60 probands with hereditary spas...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chelban, Viorica, Breza, Marianthi, Szaruga, Maria, Vandrovcova, Jana, Murphy, David, Lee, Chia‐Ju, Alikhwan, Sondos, Bourinaris, Thomas, Vavougios, George, Ilyas, Muhammad, Halim, Sobia Ahsan, Al‐Harrasi, Ahmed, Kartanou, Chrisoula, Ronald, Coras, Blumcke, Ingmar, Alexoudi, Athanasia, Gatzonis, Stylianos, Stefanis, Leonidas, Karadima, Georgia, Wood, Nicholas W., Chávez‐Gutiérrez, Lucía, Hardy, John, Houlden, Henry, Koutsis, Georgios
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8088589/ https://www.ncbi.nlm.nih.gov/pubmed/33969176 http://dx.doi.org/10.1002/dad2.12186

Ejemplares similares

A Greek National Cross-Sectional Study on Myotonic Dystrophies
por: Papadimas, Georgios K., et al.
Publicado: (2022)

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia
por: Bettencourt, Conceição, et al.
Publicado: (2017)

Epileptic Patient with Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia and Epilepsy (MOGHE): A Case Report and Review of the Literature
por: Verentzioti, A., et al.
Publicado: (2019)

Characterization of spastic paraplegia in a family with a novel PSEN1 mutation
por: Ringman, John M, et al.
Publicado: (2023)

Genotyping and Plasma/Cerebrospinal Fluid Profiling of a Cohort of Frontotemporal Dementia–Amyotrophic Lateral Sclerosis Patients
por: Bourbouli, Mara, et al.
Publicado: (2021)

Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project
por: Bourinaris, Thomas, et al.
Publicado: (2020)

GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy
por: Lynch, David S., et al.
Publicado: (2018)

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia
por: Chelban, Viorica, et al.
Publicado: (2017)

Oromandibular Dystonia: A Case Report of the Lateral Pterygoid Muscle Involvement and Treatment with Botulinum Toxin A
por: Alexoudi, Athanasia, et al.
Publicado: (2016)

Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement
por: Koutsis, Georgios, et al.
Publicado: (2015)

Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2
por: Hsu, Simon, et al.
Publicado: (2020)

Implantable Subcutaneous Peripheral Nerve Stimulation Improves Degenerative Ataxia
por: Alexoudi, Athanasia, et al.
Publicado: (2023)

Recurrent Fulminant Tumefactive Demyelination With Marburg-Like Features and Atypical Presentation: Therapeutic Dilemmas and Review of Literature
por: Vakrakou, Aigli G., et al.
Publicado: (2020)

Aβ profiles generated by Alzheimer’s disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset
por: Petit, Dieter, et al.
Publicado: (2022)

PSEN as an Educational Tool in Norway
por: Westvik, Tormod Schumacher
Publicado: (2017)

APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease
por: Giau, Vo Van, et al.
Publicado: (2019)

Genetic and phenotypic characterization of complex hereditary spastic paraplegia
por: Kara, Eleanna, et al.
Publicado: (2016)

Amyloid-β(1–43) cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations
por: Perrone, Federica, et al.
Publicado: (2020)

From EST to structure models for functional inference of APP, BACE1, PSEN1, PSEN2 genes
por: Aathi, Muthusankar, et al.
Publicado: (2019)

APP, PSEN1, and PSEN2 Variants in Alzheimer’s Disease: Systematic Re-evaluation According to ACMG Guidelines
por: Xiao, Xuewen, et al.
Publicado: (2021)

Validation of differentially expressed brain‐enriched microRNAs in the plasma of PD patients
por: Ravanidis, Stylianos, et al.
Publicado: (2020)

Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families
por: Cruchaga, Carlos, et al.
Publicado: (2012)

Presence of a mutation in PSEN1 or PSEN2 gene is associated with an impaired brain endothelial cell phenotype in vitro
por: Raut, Snehal, et al.
Publicado: (2021)

Novel PSEN1 and PSEN2 Mutations Identified in Sporadic Early-onset Alzheimer Disease and Posterior Cortical Atrophy
por: Li, Xu-Ying, et al.
Publicado: (2021)

B-Cell Targeted Therapies in Patients with Multiple Sclerosis and Incidence of Headache: A Systematic Review and Meta-Analysis
por: Mavridis, Theodoros, et al.
Publicado: (2022)

Correction: Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families
por: Cruchaga, Carlos, et al.
Publicado: (2012)

The associations of APP , PSEN1 , and PSEN2 genes with Alzheimer's disease: A large case–control study in Chinese population
por: Xiao, Xuewen, et al.
Publicado: (2022)

From Mild Ataxia to Huntington Disease Phenocopy: The Multiple Faces of Spinocerebellar Ataxia 17
por: Koutsis, Georgios, et al.
Publicado: (2014)

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases
por: Lanoiselée, Hélène-Marie, et al.
Publicado: (2017)

Addressing Evidence Linking Secondary Alexithymia to Aberrant Humor Processing
por: Patrikelis, Panayiotis, et al.
Publicado: (2019)

Long-Term Neuropsychological Outcomes Following Temporal Lobe Epilepsy Surgery: An Update of the Literature
por: Alexandratou, Ioanna, et al.
Publicado: (2021)

Epilepsy and the “dark” literature of the Greek novelist Demosthenes Voutyras: an outstanding epileptic personality
por: Patrikelis, Panayiotis, et al.
Publicado: (2023)

Selective inhibitors of the PSEN1–gamma-secretase complex
por: Serneels, Lutgarde, et al.
Publicado: (2023)

Pathogenic Aβ production by heterozygous PSEN1 mutations is intrinsic to the mutant protein and not mediated by conformational hindrance of wild-type PSEN1
por: Kurth, Vanessa, et al.
Publicado: (2023)

Alemtuzumab-induced alopecia universalis and transient accommodation spasm in a patient with multiple sclerosis
por: Tzanetakos, Dimitrios, et al.
Publicado: (2022)

Variables affecting factors associated with primary headache
por: Alexoudi, Athanasia, et al.
Publicado: (2018)

Combined Invasive Peripheral Nerve Stimulation in the Management of Chronic Post-Intracranial Disorder Headache: A Case Report
por: Alexoudi, Athanasia, et al.
Publicado: (2023)

Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease
por: Sassi, Celeste, et al.
Publicado: (2014)

The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia
por: Mahungu, Amokelani C., et al.
Publicado: (2023)

Paraplegia in Chondrodysplasia
Publicado: (1927)

Cannot write session to /tmp/vufind_sessions/sess_rcgj470jhc0ko38vktsql4ujtp