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Hereditary spastic paraplegia

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https://www.readbyqxmd.com/read/27911893/the-mitochondrial-m-aaa-protease-prevents-demyelination-and-hair-greying
#1
Shuaiyu Wang, Julie Jacquemyn, Sara Murru, Paola Martinelli, Esther Barth, Thomas Langer, Carien M Niessen, Elena I Rugarli
The m-AAA protease preserves proteostasis of the inner mitochondrial membrane. It ensures a functional respiratory chain, by controlling the turnover of respiratory complex subunits and allowing mitochondrial translation, but other functions in mitochondria are conceivable. Mutations in genes encoding subunits of the m-AAA protease have been linked to various neurodegenerative diseases in humans, such as hereditary spastic paraplegia and spinocerebellar ataxia. While essential functions of the m-AAA protease for neuronal survival have been established, its role in adult glial cells remains enigmatic...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27909242/beneficial-effects-of-rapamycin-in-a-drosophila-model-for-hereditary-spastic-paraplegia
#2
Shiyu Xu, Michael Stern, James A McNew
The locomotor deficits in the hereditary spastic paraplegias (HSPs) reflect degeneration of upper motor neurons, but the mechanisms underlying this neurodegeneration are unknown. We established a Drosophila model for the HSP atlastin (atl), which encodes an ER fusion protein. Here we show that neuronal atl loss causes degeneration of specific thoracic muscles that is preceded by other pathologies including accumulation of aggregates containing poly-ubiquitin (poly-UB), increased generation of reactive oxygen species, and activation of the JNK/Foxo stress response pathway...
December 1, 2016: Journal of Cell Science
https://www.readbyqxmd.com/read/27900367/whole-genome-sequencing-of-two-probands-with-hereditary-spastic-paraplegia-reveals-novel-splice-donor-region-variant-and-known-pathogenic-variant-in-spg11
#3
Allen Chi-Shing Yu, Anne Yin-Yan Chan, Wing Chi Au, Yun Shen, Ting Fung Chan, Ho-Yin Edwin Chan
Hereditary spastic paraplegias (HSPs) are a group of heterogeneous neurodegenerative disorders, which are often presented with overlapping phenotypes such as progressive paraparesis and spasticity. To assist the diagnosis of HSP subtypes, next-generation sequencing is often used to provide supporting evidence. In this study, we report the case of two probands from the same family with HSP symptoms, including bilateral lower limb weakness, unsteady gait, cognitive decline, dysarthria, and slurring of speech since the age of 14...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27879220/generation-of-induced-pluripotent-stem-cells-ipscs-from-a-hereditary-spastic-paraplegia-patient-carrying-a-homozygous-y275x-mutation-in-cyp7b1-spg5
#4
Stefan Hauser, Philip Höflinger, Yvonne Theurer, Tim W Rattay, Ludger Schöls
Skin fibroblasts were obtained from a 47-year-old hereditary spastic paraplegia patient carrying a homozygous mutation Y275X in CYP7B1 (Cytochrome P450, Family 7, Subfamily B, Polypeptide 1), responsible for causing hereditary spastic paraplegia type 5 (SPG5). Induced pluripotent stem cells (iPSCs) were generated by transfection with episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC and hLIN28. The generated line iPS-SPG5-Y275X was transgene-free, retained the specific mutation with no additional genomic aberrations, expressed pluripotency markers and was able to differentiate into cells of all germ layers in vitro...
September 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27879216/generation-of-induced-pluripotent-stem-cells-ipscs-from-a-hereditary-spastic-paraplegia-patient-carrying-a-homozygous-r486c-mutation-in-cyp7b1-spg5
#5
Philip Höflinger, Yvonne Theurer, Rebecca Schüle, Ludger Schöls, Stefan Hauser
Skin fibroblasts were obtained from a 47-year-old hereditary spastic paraplegia patient carrying a homozygous mutation R486C in CYP7B1 (Cytochrome P450, Family 7, Subfamily B, Polypeptide 1), responsible for causing hereditary spastic paraplegia type 5 (SPG5). Induced pluripotent stem cells (iPSCs) were generated by transfection with episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC and hLIN28. The generated line iPS-SPG5-R486C was transgene-free, retained the specific mutation with no additional genomic aberrations, expressed pluripotency markers and was able to differentiate into cells of all germ layers in vitro...
September 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27872255/proteolipid-protein-deficient-myelin-promotes-axonal-mitochondrial-dysfunction-via-altered-metabolic-coupling
#6
Xinghua Yin, Grahame J Kidd, Nobuhiko Ohno, Guy A Perkins, Mark H Ellisman, Chinthasagar Bastian, Sylvain Brunet, Selva Baltan, Bruce D Trapp
Hereditary spastic paraplegia (HSP) is a neurological syndrome characterized by degeneration of central nervous system (CNS) axons. Mutated HSP proteins include myelin proteolipid protein (PLP) and axon-enriched proteins involved in mitochondrial function, smooth endoplasmic reticulum (SER) structure, and microtubule (MT) stability/function. We characterized axonal mitochondria, SER, and MTs in rodent optic nerves where PLP is replaced by the peripheral nerve myelin protein, P0 (P0-CNS mice). Mitochondrial pathology and degeneration were prominent in juxtaparanodal axoplasm at 1 mo of age...
November 21, 2016: Journal of Cell Biology
https://www.readbyqxmd.com/read/27866730/hereditary-neuropathies-an-update
#7
REVIEW
T Stojkovic
Hereditary neuropathies are the most common inherited neuromuscular diseases. Charcot-Marie-Tooth (CMT) disease represents the most common form with an average prevalence ranging from 1/2500 to 1/1200, depending on the studies. To date and with the advances of the latest generation sequencing, more than 80 genes have been identified. Although the common clinical phenotype comprises a progressive distal muscle weakness and sensory loss, foot deformities and decreased or absent tendon reflexes, clinical and electrophysiological phenotypes exhibit great variability...
November 17, 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27857457/multiparametric-3t-mri-evaluation-of-hereditary-spastic-paraplegia-a-case-report
#8
Sonam Priya, Naznin Siddique, Ruchira Das, Archana Singh
Hereditary spastic paraplegia (HSP) is a rare heterogeneous group of familial neurodegenerative disorders characterized by degeneration of the corticospinal tracts and posterior column of the spinal cord. Previously described radiological findings included nonspecific brain abnormalities such as brain atrophy and white matter lesions, as well as atrophy of the corpus callosum and spinal cord. Magnetic resonance spectroscopy may reveal reduced concentrations of normal brain metabolites and elevated levels of myoinositol...
July 2016: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/27824013/novel-mutations-in-endoplasmic-reticulum-lipid-raft-associated-protein-2-gene-cause-pure-hereditary-spastic-paraplegia-type-18
#9
Wo-Tu Tian, Jun-Yi Shen, Xiao-Li Liu, Tian Wang, Xing-Hua Luan, Hai-Yan Zhou, Sheng-Di Chen, Xiao-Jun Huang, Li Cao
No abstract text is available yet for this article.
2016: Chinese Medical Journal
https://www.readbyqxmd.com/read/27789400/establishment-of-spast-mutant-induced-pluripotent-stem-cells-ipscs-from-a-hereditary-spastic-paraplegia-hsp-patient
#10
Stefan Hauser, Melanie Erzler, Yvonne Theurer, Stefanie Schuster, Rebecca Schüle, Ludger Schöls
Human skin fibroblasts were isolated from a 40-year-old hereditary spastic paraplegia patient carrying an intronic splice site mutation (c.1687+2T>A) in SPAST, leading to hereditary spastic paraplegia type 4 (SPG4). Fibroblasts were reprogrammed using episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC and hLIN28. The generated transgene-free line iPS-SPG4-splice retained the specific mutation with no additional genomic aberrations, expressed pluripotency markers and was able to differentiate into cells of all germ layers in vitro...
September 26, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27784775/expanding-the-phenotype-of-bicd2-mutations-toward-skeletal-muscle-involvement
#11
Andreas Unger, Gabriele Dekomien, Anne Güttsches, Thomas Dreps, Rudolf Kley, Martin Tegenthoff, Andreas Ferbert, Joachim Weis, Christoph Heyer, Wolfgang A Linke, Lilian Martinez-Carrera, Markus Storbeck, Brunhilde Wirth, Sabine Hoffjan, Matthias Vorgerd
OBJECTIVE: To expand the spectrum of bicaudal D, Drosophila, homologue 2 (BICD2) gene-related diseases, which so far includes autosomal dominant spinal muscular atrophy with lower extremity predominance 2 and hereditary spastic paraplegia due to mutations in the BICD2 gene. METHODS: We analyzed 2 independent German families with clinical, genetic, and muscle MRI studies. In both index patients, muscle histopathologic studies were performed. Transfection studies were carried out to analyze the functional consequences of the disease-causing mutations...
October 26, 2016: Neurology
https://www.readbyqxmd.com/read/27751653/recurrent-de-novo-bicd2-mutation-associated-with-arthrogryposis-multiplex-congenita-and-bilateral-perisylvian-polymicrogyria
#12
Gianina Ravenscroft, Nataliya Di Donato, Gabriele Hahn, Mark R Davis, Paul D Craven, Gemma Poke, Katherine R Neas, Teresa M Neuhann, William B Dobyns, Nigel G Laing
Autosomal dominantly inherited mutations of BICD2 are associated with congenital-onset spinal muscular atrophy characterised by lower limb predominance. A few cases have also showed upper motor neuron pathology, including presenting with features resembling hereditary spastic paraplegia. The age-of-onset for the published families is usually at birth but also included cases with childhood- and adult-onset disease. In this report we described two isolated probands that presented in utero with features associated with reduced fetal movements...
November 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27738760/als-and-mmn-mimics-in-patients-with-bscl2-mutations-the-expanding-clinical-spectrum-of-spg17-hereditary-spastic-paraplegia
#13
Thomas Musacchio, Ann-Kathrin Zaum, Nurcan Üçeyler, Claudia Sommer, Nora Pfeifroth, Karlheinz Reiners, Erdmute Kunstmann, Jens Volkmann, Simone Rost, Stephan Klebe
Silver syndrome/SPG17 is a motor manifestation of mutations in the BSCL2 gene and usually presents as a complicated form of hereditary spastic paraplegia (HSP). We present clinical data, follow-up, and genetic results of seven patients with Silver syndrome/SPG17 including a family with a variable intrafamilial phenotype ranging from subclinical signs to a severe and rapidly progressing amyotrophic lateral sclerosis (ALS)-like phenotype. For molecular diagnosis of the family, we used the TruSight Exome sequencing panel consisting of 2761 genes...
October 13, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27725288/a-23-years-follow-up-study-identifies-glut1-deficiency-syndrome-initially-diagnosed-as-complicated-hereditary-spastic-paraplegia
#14
Marina Diomedi, Ziv Gan-Or, Fabio Placidi, Patrick A Dion, Anna Szuto, Mario Bengala, Guy A Rouleau, Gian Luigi Gigli
Glucose transporter 1 (GLUT1) deficiency syndrome (GLUT1DS) was initially described in the early 90s as a sporadic clinical condition, characterized by seizures, motor and intellectual impairment with variable clinical presentation, and without a known genetic cause. Although causative mutations in SLC2A1 were later identified and much more is known about the disease, it still remains largely underdiagnosed. In the current study, a previously described Italian family was re-analyzed using whole exome sequencing and clinically re-evaluated...
October 7, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27688599/cognitive-impairment-involving-social-cognition-in-spg4-hereditary-spastic-paraplegia
#15
Ludivine Chamard, Sabrina Ferreira, Alexa Pijoff, Manon Silvestre, Eric Berger, Eloi Magnin
Objectives. To describe cognitive assessment including social cognition in SPG4 patients. Methods. We reported a series of nine patients with SPG4 mutation with an extensive neuropsychological examination including social cognition assessment. Results. None of our patients presented with mental retardation or dementia. All presented with mild cognitive impairment with a high frequency of attention deficit (100%), executive disorders (89%), and social cognition impairment (78%). An asymptomatic patient for motor skills presented with the same cognitive profile...
2016: Behavioural Neurology
https://www.readbyqxmd.com/read/27679996/defining-the-genetic-basis-of-early-onset-hereditary-spastic-paraplegia-using-whole-genome-sequencing
#16
Kishore R Kumar, G M Wali, Mahesh Kamate, Gautam Wali, André E Minoche, Clare Puttick, Mark Pinese, Velimir Gayevskiy, Marcel E Dinger, Tony Roscioli, Carolyn M Sue, Mark J Cowley
We performed whole genome sequencing (WGS) in nine families from India with early-onset hereditary spastic paraplegia (HSP). We obtained a genetic diagnosis in 4/9 (44 %) families within known HSP genes (DDHD2 and CYP2U1), as well as perixosomal biogenesis disorders (PEX16) and GM1 gangliosidosis (GLB1). In the remaining patients, no candidate structural variants, copy number variants or predicted splice variants affecting an extended candidate gene list were identified. Our findings demonstrate the efficacy of using WGS for diagnosing early-onset HSP, particularly in consanguineous families (4/6 diagnosed), highlighting that two of the diagnoses would not have been made using a targeted approach...
October 2016: Neurogenetics
https://www.readbyqxmd.com/read/27676748/locomotor-aspects-in-the-hereditary-spastic-paraplegia-spatio-temporal-and-electromygraphic-analyzes-in-a-prospective-cohort-of-twelve-patients
#17
Jean-Philippe Ehny, Yoshimasa Sagawa, Laurent Tatu, Ludivine Chamard, Bernard Parratte, Pierre Decavel
OBJECTIVE: Hereditary spastic paraplegia (HSP) designates a rare genetic disorder characterized by the existence of a pyramidal syndrome and/or paresis of the lower limbs, resulting in locomotor disorders. The objective of this study was to investigate the HSP patients walking characteristics during a comfortable walking speed, to determinate the most deleterious impairments and their evolutivity during a prolonged standardized walk. A second goal was to study the co-contraction of targeted muscles during these two walking conditions...
September 2016: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27676711/neurogenic-detrusor-overactivity-in-patients-with-hereditary-spastic-paraplegias
#18
Charles Joussain, Jonathan Levy, Audrey Charlanes, Alexia Even, Laetitia Falcou, Emmanuel Chartier-Kastler, Pierre Denys
OBJECTIVE: Hereditary spastic paraplegia (HSP) represents a clinically and genetically heterogeneous group of neurodegenerative diseases, with a worldwide estimated prevalence of 1.3/100,000 [1]. The "pure" form of HSP is a characterized by a progressive spastic paraplegia, often associated with lower urinary tract symptoms (LUTS) (72.4% to 77.6%) [2,3]. However, urologic complications are rarely reported. The aim of this study was to characterize clinical and urodynamic aspects of LUTS following HSP, and to describe treatment and urological complications of LUTS in a large series of HSP patients...
September 2016: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27669642/mammalian-knock-out-cells-reveal-prominent-roles-for-atlastin-gtpases-in-er-network-morphology
#19
Guohua Zhao, Peng-Peng Zhu, Benoît Renvoisé, Lymarie Maldonado-Báez, Seong Hee Park, Craig Blackstone
Atlastins are large, membrane-bound GTPases that participate in the fusion of endoplasmic reticulum (ER) tubules to generate the polygonal ER network in eukaryotes. They also regulate lipid droplet size and inhibit bone morphogenetic protein (BMP) signaling, though mechanisms remain unclear. Humans have three atlastins (ATL1, ATL2, and ATL3), and ATL1 and ATL3 are mutated in autosomal dominant hereditary spastic paraplegia and hereditary sensory neuropathies. Cellular investigations of atlastin orthologs in most yeast, plants, flies and worms are facilitated by the presence of a single or predominant isoform, but loss-of-function studies in mammalian cells are complicated by multiple, broadly-expressed paralogs...
September 23, 2016: Experimental Cell Research
https://www.readbyqxmd.com/read/27642048/the-m-aaa-protease-associated-with-neurodegeneration-limits-mcu-activity-in-mitochondria
#20
Tim König, Simon E Tröder, Kavya Bakka, Anne Korwitz, Ricarda Richter-Dennerlein, Philipp A Lampe, Maria Patron, Mareike Mühlmeister, Sergio Guerrero-Castillo, Ulrich Brandt, Thorsten Decker, Ines Lauria, Angela Paggio, Rosario Rizzuto, Elena I Rugarli, Diego De Stefani, Thomas Langer
Mutations in subunits of mitochondrial m-AAA proteases in the inner membrane cause neurodegeneration in spinocerebellar ataxia (SCA28) and hereditary spastic paraplegia (HSP7). m-AAA proteases preserve mitochondrial proteostasis, mitochondrial morphology, and efficient OXPHOS activity, but the cause for neuronal loss in disease is unknown. We have determined the neuronal interactome of m-AAA proteases in mice and identified a complex with C2ORF47 (termed MAIP1), which counteracts cell death by regulating the assembly of the mitochondrial Ca(2+) uniporter MCU...
October 6, 2016: Molecular Cell
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