A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation
Sign Up to like & getrecommendations! Published in 2017 at "Movement Disorders"
DOI: 10.1002/mds.26922
Abstract: PD patients treated with STN-DBS and LCIG, worsening activities of daily living by threefold after adjusting for cognitive impairment, age, and motor severity. Importantly, both symptomatic and asymptomatic orthostatic hypotension impaired ADL/iADL to a similar… read more here.
Keywords: neurodegeneration brain; mimicking neurodegeneration; ap4s1 mimicking; variant ap4s1 ... See more keywords
A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2054
Abstract: A de novo, pathogenic, missense variant in UBTF, c.628G>A p.Glu210Lys, has been described as the cause of an emerging neurodegenerative disorder, Childhood‐Onset Neurodegeneration with Brain Atrophy (CONDBA). The p.Glu210Lys alteration yields a positively charged stretch… read more here.
Keywords: variant ubtf; neurodegeneration brain; brain atrophy;
Clinical and Imaging Presentation of a Patient with Beta-Propeller Protein-Associated Neurodegeneration, a Rare and Sporadic form of Neurodegeneration with Brain Iron Accumulation (NBIA)
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Neuroradiology"
DOI: 10.1007/s00062-017-0605-9
Abstract: Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of inherited neurologic disorders with iron accumulation in the basal ganglia, which share magnetic resonance (MR) imaging characteristics, histopathologic and clinical features. According to the affected… read more here.
Keywords: neurodegeneration; brain iron; neurodegeneration brain; iron accumulation ... See more keywords
Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation.
Sign Up to like & getrecommendations! Published in 2017 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.08.015
Abstract: Defects of phospholipids remodelling and synthesis are inborn errors of metabolism responsible for various clinical presentations including spastic paraplegia, retinopathy, optic atrophy, myo- and cardiomyopathies, and osteo-cutaneous manifestations. DDHD1 encodes a phospholipase A1, which is… read more here.
Keywords: mutations ddhd1; neurodegeneration brain; phospholipase; brain iron ... See more keywords
Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-070-02) from a patient with neurodegeneration with brain iron accumulation (NBIA) having compound heterozygous mutations in PANK2 gene.
Sign Up to like & getrecommendations! Published in 2021 at "Stem cell research"
DOI: 10.1016/j.scr.2021.102190
Abstract: Neurodegeneration with brain iron accumulation (NBIA) is a genetically and phenotypically heterogeneous group of inherited neurodegenerative disorder characterized by basal ganglia iron deposition. Mutations in Pantothenate Kinase 2 (PANK2) are major genetic causes for patients… read more here.
Keywords: neurodegeneration brain; brain iron; accumulation nbia; iron accumulation ... See more keywords
Impaired olfaction is associated with cognitive decline and neurodegeneration in the brain
Sign Up to like & getrecommendations! Published in 2019 at "Neurology"
DOI: 10.1212/wnl.0000000000006919
Abstract: Objective We aimed to examine whether impaired olfaction is associated with cognitive decline and indicators of neurodegeneration in the brain of dementia-free older adults. Methods Within the Rush Memory and Aging Project, 380 dementia-free participants… read more here.
Keywords: neurodegeneration brain; cognitive decline; olfaction; impaired olfaction ... See more keywords