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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
#1
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/27820618/pallidal-deep-brain-stimulation-for-the-treatment-of-levodopa-responsive-juvenile-dystonia-and-parkinsonism-secondary-to-spg11-mutation
#2
Adolfo Ramirez-Zamora, Lucy Gee, Youngwon Youn, Damian S Shin, Julie G Pilitsis
No abstract text is available yet for this article.
November 7, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/27601211/hereditary-spastic-paraplegias-identification-of-a-novel-spg57-variant-affecting-tfg-oligomerization-and-description-of-hsp-subtypes-in-sudan
#3
Liena E O Elsayed, Inaam N Mohammed, Ahlam A A Hamed, Maha A Elseed, Adam Johnson, Mathilde Mairey, Hassab Elrasoul S A Mohamed, Mohamed N Idris, Mustafa A M Salih, Sarah M El-Sadig, Mahmoud E Koko, Ashraf Y O Mohamed, Laure Raymond, Marie Coutelier, Frédéric Darios, Rayan A Siddig, Ahmed K M A Ahmed, Arwa M A Babai, Hiba M O Malik, Zulfa M B M Omer, Eman O E Mohamed, Hanan B Eltahir, Nasr Aldin A Magboul, Elfatih E Bushara, Abdelrahman Elnour, Salah M Abdel Rahim, Abdelmoneim Alattaya, Mustafa I Elbashir, Muntaser E Ibrahim, Alexandra Durr, Anjon Audhya, Alexis Brice, Ammar E Ahmed, Giovanni Stevanin
Hereditary spastic paraplegias (HSP) are the second most common type of motor neuron disease recognized worldwide. We investigated a total of 25 consanguineous families from Sudan. We used next-generation sequencing to screen 74 HSP-related genes in 23 families. Linkage analysis and candidate gene sequencing was performed in two other families. We established a genetic diagnosis in six families with autosomal recessive HSP (SPG11 in three families and TFG/SPG57, SACS and ALS2 in one family each). A heterozygous mutation in a gene involved in an autosomal dominant HSP (ATL1/SPG3A) was also identified in one additional family...
September 7, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27544499/severe-axonal-neuropathy-is-a-late-manifestation-of-spg11
#4
Andreea Manole, Viorica Chelban, Nourelhoda A Haridy, Sherifa A Hamed, Andrés Berardo, Mary M Reilly, Henry Houlden
Complex hereditary spastic paraplegia (HSP) is a clinically heterogeneous group of disorders usually inherited in an autosomal recessive manner. In the past, complex recessive spastic paraplegias have been frequently associated with SPG11 mutations but also with defects in SPG15, SPG7 and a handful of other rare genes. Pleiotropy exists in HSP genes, exemplified in the recent association of SPG11 mutations with CMT2. In this study, we performed whole exome sequence analysis and identified two siblings with novel compound heterozygous frameshift SPG11 mutations...
November 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27318863/novel-compound-heterozygous-spatacsin-mutations-in-a-greek-kindred-with-hereditary-spastic-paraplegia-spg11-and-dementia
#5
Matthew J Fraidakis, Maura Brunetti, Craig Blackstone, Massimo Filippi, Adriano Chiò
SPG11 belongs to the autosomal recessive hereditary spastic paraplegias (HSP) and presents during childhood or puberty with a complex clinical phenotype encompassing learning difficulties, ataxia, peripheral neuropathy, amyotrophy, and mental retardation. We hereby present the case of a 30-year-old female patient with complex autosomal recessive HSP with thinning of the corpus callosum (TCC) and dementia that was compound heterozygous with two novel mutations in the SPG11 gene. Sequence analysis of the SPG11 gene revealed two novel mutations in a compound heterozygous state in the index patient (c...
2016: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/27256065/a-case-report-of-spg11-mutations-in-a-chinese-arhsp-tcc-family
#6
Linwei Zhang, Karen N McFarland, Jinsong Jiao, Yujuan Jiao
BACKGROUND: Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a complicated form of hereditary spastic paraplegia, characterized by progressive spastic paraplegia, weakness of the lower extremities and is usually accompanied by mental retardation. Mutations in the Spastic Paraplegia gene 11 (SPG11) account for a large proportion of ARHSP-TCC cases worldwide. CASE PRESENTATION: We describe a Chinese family with ARHSP-TCC...
June 3, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27217339/genetic-and-phenotypic-characterization-of-complex-hereditary-spastic-paraplegia
#7
Eleanna Kara, Arianna Tucci, Claudia Manzoni, David S Lynch, Marilena Elpidorou, Conceicao Bettencourt, Viorica Chelban, Andreea Manole, Sherifa A Hamed, Nourelhoda A Haridy, Monica Federoff, Elisavet Preza, Deborah Hughes, Alan Pittman, Zane Jaunmuktane, Sebastian Brandner, Georgia Xiromerisiou, Sarah Wiethoff, Lucia Schottlaender, Christos Proukakis, Huw Morris, Tom Warner, Kailash P Bhatia, L V Prasad Korlipara, Andrew B Singleton, John Hardy, Nicholas W Wood, Patrick A Lewis, Henry Houlden
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as either pure with predominant lower limb spasticity, or complex where spastic paraplegia is complicated with additional neurological features, and are inherited in autosomal dominant, autosomal recessive or X-linked patterns. Genetic defects have been identified in over 40 different genes, with more than 70 loci in total. Complex recessive spastic paraplegias have in the past been frequently associated with mutations in SPG11 (spatacsin), ZFYVE26/SPG15, SPG7 (paraplegin) and a handful of other rare genes, but many cases remain genetically undefined...
July 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27180005/a-rare-case-of-spg11-mutation-with-multiple-sclerosis
#8
C Laurencin, L Rascle, F Cotton, C Grosset-Janin, E Bernard, C Depienne, S Vukusic, S Thobois
We describe a patient with SPG11 hereditary spastic paraplegia (HSP), who developed walking disorder in childhood. He presented three episodes of subacute gait disorders worsening between the age of 20 and 22 years. Brain and spinal MRI revealed multiple T2 hypersignal lesions, consistent with inflammatory lesions. Surprisingly, CSF analysis showed neither oligoclonal bands nor increased IgG index. He was dramatically improved by intravenous methylprednisolone. A relapsing-remitting multiple sclerosis (MS) was suspected...
June 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27084228/genetic-background-of-the-hereditary-spastic-paraplegia-phenotypes-in-hungary-an-analysis-of-58-probands
#9
Peter Balicza, Zoltan Grosz, Michael A Gonzalez, Renata Bencsik, Klara Pentelenyi, Aniko Gal, Edina Varga, Peter Klivenyi, Julia Koller, Stephan Züchner, Judit Maria Molnar
BACKGROUND: Hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases with progressive lower limb spasticity and weakness. The aim of this study is to determine the frequency of different SPG mutations in Hungarian patients, and to provide further genotype-phenotype correlations for the known HSP causing genes. METHODS: We carried out genetic testing for 58 probands with clinical characteristics of HSP...
May 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27071356/high-frequency-of-pathogenic-rearrangements-in-spg11-and-extensive-contribution-of-mutational-hotspots-and-founder-alleles
#10
Sven Günther, Ewelina Elert-Dobkowska, Anne S Soehn, Sophie Hinreiner, Grace Yoon, Raoul Heller, Yorck Hellenbroich, Christian A Hübner, Peter N Ray, Ute Hehr, Peter Bauer, Anna Sulek, Christian Beetz
Biallelic loss-of-function mutations in SPG11 cause a wide spectrum of recessively inherited, neurodegenerative disorders including hereditary spastic paraplegia (HSP), amyotrophic lateral sclerosis, and Charcot-Marie-Tooth disease. By comprehensive screening of three large cohorts of HSP index patients, we identified 83 alleles with "small" mutations and 13 alleles that carry large genomic rearrangements. Including relevant data from previous studies, we estimate that copy number variants (CNVs) account for ∼19% of pathogenic SPG11 alleles...
July 2016: Human Mutation
https://www.readbyqxmd.com/read/27066562/turkish-families-with-juvenile-motor-neuron-disease-broaden-the-phenotypic-spectrum-of-spg11
#11
Ceren Iskender, Ece Kartal, Fulya Akcimen, Cemile Kocoglu, Aslihan Ozoguz, Dilcan Kotan, Mefkure Eraksoy, Yesim G Parman, Ayse Nazli Basak
OBJECTIVE: Identification of causative mutations in 3 consanguineous families (with 4 affected members) referred to our center with young-onset motor neuron disease and overlapping phenotypes resembling autosomal recessive juvenile amyotrophic lateral sclerosis (ARJALS) and autosomal recessive hereditary spastic paraplegia (ARHSP). METHODS: Patients have a slowly progressive motor neuron disease with upper and lower motor neuron dysfunction. There is distal muscle weakness and atrophy associated with pyramidal signs...
October 2015: Neurology. Genetics
https://www.readbyqxmd.com/read/27016404/motor-neuron-degeneration-in-spastic-paraplegia-11-mimics-amyotrophic-lateral-sclerosis-lesions
#12
Paola S Denora, Katrien Smets, Federica Zolfanelli, Chantal Ceuterick-de Groote, Carlo Casali, Tine Deconinck, Anne Sieben, Michael Gonzales, Stephan Zuchner, Frédéric Darios, Dirk Peeters, Alexis Brice, Alessandro Malandrini, Peter De Jonghe, Filippo M Santorelli, Giovanni Stevanin, Jean-Jacques Martin, Khalid H El Hachimi
The most common form of autosomal recessive hereditary spastic paraplegia is caused by mutations in the SPG11/KIAA1840 gene on chromosome 15q. The nature of the vast majority of SPG11 mutations found to date suggests a loss-of-function mechanism of the encoded protein, spatacsin. The SPG11 phenotype is, in most cases, characterized by a progressive spasticity with neuropathy, cognitive impairment and a thin corpus callosum on brain MRI. Full neuropathological characterization has not been reported to date despite the description of >100 SPG11 mutations...
June 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/26972116/mutations-in-fus-are-the-most-frequent-genetic-cause-in-juvenile-sporadic-als-patients-of-chinese-origin
#13
Zhang-Yu Zou, Ming-Sheng Liu, Xiao-Guang Li, Li-Ying Cui
Juvenile onset ALS is a very rare form of motor neuron disease, with the first symptoms of motor neuron degeneration manifested before 25 years of age. Mutations in the alsin (ALS2), senataxin (SETX), and spatacsin (SPG11) genes have been associated with familial ALS with juvenile onset and slow progression, whereas the genetic architecture of sporadic juvenile ALS remains unclear. We screened mutations in C9orf72, SOD1, FUS, TARDBP, ANG, VCP and PFN1 in 16 juvenile sporadic ALS patients. Four cases (25%) carrying FUS mutations and one individual (6%) harbouring a SOD1 mutation were identified...
2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/26971897/gsk3%C3%A3-dependent-dysregulation-of-neurodevelopment-in-spg11-patient-ipsc-model
#14
Himanshu K Mishra, Iryna Prots, Steven Havlicek, Zacharias Kohl, Francesc Perez-Branguli, Tom Boerstler, Lukas Anneser, Georgia Minakaki, Holger Wend, Martin Hampl, Marina Leone, Martina Brückner, Jochen Klucken, Andre Reis, Leah Boyer, Gerhard Schuierer, Jürgen Behrens, Angelika Lampert, Felix B Engel, Fred H Gage, Jürgen Winkler, Beate Winner
OBJECTIVE: Mutations in the Spastic Paraplegia Gene11 (SPG11), encoding spatacsin, cause the most frequent form of autosomal recessive (AR) complex hereditary spastic paraplegia (HSP) and juvenile onset amyotrophic lateral sclerosis (ALS5). When SPG11 is mutated, patients frequently present with spastic paraparesis, a thin corpus callosum, and cognitive impairment. We previously delineated a neurodegenerative phenotype in neurons of these patients. In the current study, we recapitulated early developmental phenotypes of SPG11 and outlined their cellular and molecular mechanisms in patient-specific induced pluripotent stem cell (iPSC) derived cortical neural progenitor cells (NPCs)...
March 11, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/26937357/targeted-ngs-meets-expert-clinical-characterization-efficient-diagnosis-of-spastic-paraplegia-type-11
#15
Cristina Castro-Fernández, Manuel Arias, Patricia Blanco-Arias, Luis Santomé-Collazo, Jorge Amigo, Ángel Carracedo, Maria-Jesús Sobrido
Next generation sequencing (NGS) is transforming the diagnostic approach for neurological disorders, since it allows simultaneous analysis of hundreds of genes, even based on just a broad, syndromic patient categorization. However, such an approach bears a high risk of incidental and uncertain genetic findings. We report a patient with spastic paraplegia whose comprehensive neurological and imaging examination raised a high clinical suspicion of SPG11. Thus, although our NGS pipeline for this group of disorders includes gene panel and exome sequencing, in this sample only the spatacsin gene region was captured and subsequently searched for mutations...
June 1, 2015: Applied & Translational Genomics
https://www.readbyqxmd.com/read/26856398/hereditary-spastic-paraplegia-clinicogenetic-lessons-from-608-patients
#16
Rebecca Schüle, Sarah Wiethoff, Peter Martus, Kathrin N Karle, Susanne Otto, Stephan Klebe, Sven Klimpe, Constanze Gallenmüller, Delia Kurzwelly, Dorothea Henkel, Florian Rimmele, Henning Stolze, Zacharias Kohl, Jan Kassubek, Thomas Klockgether, Stefan Vielhaber, Christoph Kamm, Thomas Klopstock, Peter Bauer, Stephan Züchner, Inga Liepelt-Scarfone, Ludger Schöls
OBJECTIVE: Hereditary spastic paraplegias (HSPs) are genetically driven disorders with the hallmark of progressive spastic gait disturbance. To investigate the phenotypic spectrum, prognostic factors, and genotype-specific differences, we analyzed baseline data from a continuous, prospective cohort. METHODS: We recruited 608 HSP cases from 519 families of mostly German origin. Clinical severity was assessed by the Spastic Paraplegia Rating Scale. Complicating symptoms were recorded by a standardized inventory...
April 2016: Annals of Neurology
https://www.readbyqxmd.com/read/26715604/congenital-disorders-of-autophagy-an-emerging-novel-class-of-inborn-errors-of-neuro-metabolism
#17
REVIEW
Darius Ebrahimi-Fakhari, Afshin Saffari, Lara Wahlster, Jenny Lu, Susan Byrne, Georg F Hoffmann, Heinz Jungbluth, Mustafa Sahin
Single gene disorders of the autophagy pathway are an emerging, novel and diverse group of multisystem diseases in children. Clinically, these disorders prominently affect the central nervous system at various stages of development, leading to brain malformations, developmental delay, intellectual disability, epilepsy, movement disorders, and neurodegeneration, among others. Frequent early and severe involvement of the central nervous system puts the paediatric neurologist, neurogeneticist, and neurometabolic specialist at the forefront of recognizing and treating these rare conditions...
February 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/26556829/als5-spg11-kiaa1840-mutations-cause-autosomal-recessive-axonal-charcot-marie-tooth-disease
#18
Celeste Montecchiani, Lucia Pedace, Temistocle Lo Giudice, Antonella Casella, Marzia Mearini, Fabrizio Gaudiello, José L Pedroso, Chiara Terracciano, Carlo Caltagirone, Roberto Massa, Peter H St George-Hyslop, Orlando G P Barsottini, Toshitaka Kawarai, Antonio Orlacchio
Charcot-Marie-Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, as well as diminished tendon reflexes. Hundreds of causative DNA changes have been found, but much of the genetic basis of the disease is still unexplained. Mutations in the ALS5/SPG11/KIAA1840 gene are a frequent cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and peripheral axonal neuropathy, and account for ∼ 40% of autosomal recessive juvenile amyotrophic lateral sclerosis...
January 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/26374131/hereditary-spastic-paraplegia-in-greece-characterisation-of-a-previously-unexplored-population-using-next-generation-sequencing
#19
David S Lynch, Georgios Koutsis, Arianna Tucci, Marios Panas, Markella Baklou, Marianthi Breza, Georgia Karadima, Henry Houlden
Hereditary Spastic Paraplegia (HSP) is a syndrome characterised by lower limb spasticity, occurring alone or in association with other neurological manifestations, such as cognitive impairment, seizures, ataxia or neuropathy. HSP occurs worldwide, with different populations having different frequencies of causative genes. The Greek population has not yet been characterised. The purpose of this study was to describe the clinical presentation and molecular epidemiology of the largest cohort of HSP in Greece, comprising 54 patients from 40 families...
June 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/26284655/in-vivo-evidence-for-lysosome-depletion-and-impaired-autophagic-clearance-in-hereditary-spastic-paraplegia-type-spg11
#20
Rita-Eva Varga, Mukhran Khundadze, Markus Damme, Sandor Nietzsche, Birgit Hoffmann, Tobias Stauber, Nicole Koch, J Christopher Hennings, Patricia Franzka, Antje K Huebner, Michael M Kessels, Christoph Biskup, Thomas J Jentsch, Britta Qualmann, Thomas Braulke, Ingo Kurth, Christian Beetz, Christian A Hübner
Hereditary spastic paraplegia (HSP) is characterized by a dying back degeneration of corticospinal axons which leads to progressive weakness and spasticity of the legs. SPG11 is the most common autosomal-recessive form of HSPs and is caused by mutations in SPG11. A recent in vitro study suggested that Spatacsin, the respective gene product, is needed for the recycling of lysosomes from autolysosomes, a process known as autophagic lysosome reformation. The relevance of this observation for hereditary spastic paraplegia, however, has remained unclear...
August 2015: PLoS Genetics
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