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Hereditary spastic paraplegia

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https://www.readbyqxmd.com/read/29163032/lipid-involvement-in-neurodegenerative-diseases-of-the-motor-system-insights-from-lysosomal-storage-diseases
#1
REVIEW
James C Dodge
Lysosomal storage diseases (LSDs) are a heterogeneous group of rare inherited metabolic diseases that are frequently triggered by the accumulation of lipids inside organelles of the endosomal-autophagic-lysosomal system (EALS). There is now a growing realization that disrupted lysosomal homeostasis (i.e., lysosomal cacostasis) also contributes to more common neurodegenerative disorders such as Parkinson disease (PD). Lipid deposition within the EALS may also participate in the pathogenesis of some additional neurodegenerative diseases of the motor system...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29159194/multigeneration-family-with-dominant-spg30-hereditary-spastic-paraplegia
#2
Ricardo H Roda, Alice B Schindler, Craig Blackstone
Autosomal recessive KIF1A missense mutations cause hereditary spastic paraplegia (HSP) type SPG30, while recessive truncations lead to sensory and autonomic neuropathy (HSN2C) and many de novo missense mutations are associated with cognitive impairment. Here, we describe family members across three generations with pure HSP. A heterozygous p.Ser69Leu KIF1A mutation segregates with those afflicted. The same variant was previously reported in a Finnish father and son with pure HSP as well as four members of a Sicilian kindred with more intrafamilial phenotypic variability...
November 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29126212/hereditary-spastic-paraplegia-type-5-natural-history-biomarkers-and-a-randomized-controlled-trial
#3
Ludger Schöls, Tim W Rattay, Peter Martus, Christoph Meisner, Jonathan Baets, Imma Fischer, Christine Jägle, Matthew J Fraidakis, Andrea Martinuzzi, Jonas Alex Saute, Marina Scarlato, Antonella Antenora, Claudia Stendel, Philip Höflinger, Charles Marques Lourenco, Lisa Abreu, Katrien Smets, Martin Paucar, Tine Deconinck, Dana M Bis, Sarah Wiethoff, Peter Bauer, Alessia Arnoldi, Wilson Marques, Laura Bannach Jardim, Stefan Hauser, Chiara Criscuolo, Alessandro Filla, Stephan Züchner, Maria Teresa Bassi, Thomas Klopstock, Peter De Jonghe, Ingemar Björkhem, Rebecca Schüle
Spastic paraplegia type 5 (SPG5) is a rare subtype of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative disorders defined by progressive neurodegeneration of the corticospinal tract motor neurons. SPG5 is caused by recessive mutations in the gene CYP7B1 encoding oxysterol-7α-hydroxylase. This enzyme is involved in the degradation of cholesterol into primary bile acids. CYP7B1 deficiency has been shown to lead to accumulation of neurotoxic oxysterols. In this multicentre study, we have performed detailed clinical and biochemical analysis in 34 genetically confirmed SPG5 cases from 28 families, studied dose-dependent neurotoxicity of oxysterols in human cortical neurons and performed a randomized placebo-controlled double blind interventional trial targeting oxysterol accumulation in serum of SPG5 patients...
November 6, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29124833/a-nonstop-variant-in-reep1-causes-peripheral-neuropathy-by-unmasking-a-3-utr-encoded-aggregation-inducing-motif
#4
Andrea S Bock, Sven Günther, Julia Mohr, Lisa V Goldberg, Amir Jahic, Cornelia Klisch, Christian A Hübner, Saskia Biskup, Christian Beetz
Single nucleotide variants that abolish the stop codon ('nonstop' alterations) are a unique type of substitution in genomic DNA. Whether they confer instability of the mutant mRNA or result in expression of a C-terminally extended protein depends on the absence or presence of a downstream in-frame stop codon, respectively. Of the predicted protein extensions, only few have been functionally characterized. In a family with autosomal dominant Charcot-Marie-Tooth disease type 2, i.e. an axonopathy affecting sensory neurons as well as lower motor neurons, we identified a heterozygous nonstop variant in REEP1...
November 9, 2017: Human Mutation
https://www.readbyqxmd.com/read/29123918/whole-genome-sequencing-identifies-a-novel-homozygous-exon-deletion-in-the-nt5c2-gene-in-a-family-with-intellectual-disability-and-spastic-paraplegia
#5
Hossein Darvish, Luis J Azcona, Abbas Tafakhori, Mona Ahmadi, Azadeh Ahmadifard, Coro Paisán-Ruiz
Hereditary spastic paraplegias are a rare group of clinically and genetically heterogeneous neurodegenerative diseases, with upper motor neuron degeneration and progressive lower limb spasticity as their main phenotypic features. Despite that 76 distinct loci have been reported and some casual genes identified, most of the underlying causes still remain unidentified. Moreover, a wide range of clinical manifestations is present in most hereditary spastic paraplegias subtypes, adding further complexity to their differential clinical diagnoses...
2017: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/29112700/reply-complicated-hereditary-spastic-paraplegia-due-to-atp13a2-mutations-what-s-in-a-name
#6
Rebecca Schüle
No abstract text is available yet for this article.
November 3, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29112699/complicated-hereditary-spastic-paraplegia-due-to-atp13a2-mutations-what-s-in-a-name
#7
Susanne de Bot, Erik-Jan Kamsteeg, Bart P C van deWarrenburg
No abstract text is available yet for this article.
November 3, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29107646/spastic-paraplegia-type-31-a-novel-reep1-splice-site-donor-variant-and-expansion-of-the-phenotype-variability
#8
Masaki Kamada, Toshitaka Kawarai, Ryosuke Miyamoto, Rie Kawakita, Yuki Tojima, Celeste Montecchiani, Laura D'Onofrio, Carlo Caltagirone, Antonio Orlacchio, Ryuji Kaji
Mutations in REEP1 have been identified in three types of neurological disorders, autosomal dominant form of Hereditary Spastic Paraplegia type 31 (SPG31), autosomal dominant distal hereditary motor neuronopathy type VB (HMN5B), and autosomal recessive form of congenital axonal neuropathy and diaphragmatic palsy. Previous studies demonstrated different molecular pathogenesis in SPG31, including loss-of-function, gain-of-function and haploinsufficiency. A four-generation family from Japan, including 12 members, was investigated clinically and genetically...
October 21, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29096665/genotype-phenotype-correlations-and-expansion-of-the-molecular-spectrum-of-ap4m1-related-hereditary-spastic-paraplegia
#9
Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan M Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi, Triantafyllia Kalantzakou, Henry Houlden, Andrew B Singleton, Georgia Xiromerisiou
BACKGROUND: Autosomal recessive hereditary spastic paraplegia (HSP) due to AP4M1 mutations is a very rare neurodevelopmental disorder reported for only a few patients. METHODS: We investigated a Greek HSP family using whole exome sequencing (WES). RESULTS: A novel AP4M1A frameshift insertion, and a very rare missense variant were identified in all three affected siblings in the compound heterozygous state (p.V174fs and p.C319R); the unaffected parents were carriers of only one variant...
November 2, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29070749/a-amyotrophic-lateral-sclerosis-als-4-family-misdiagnosed-as-hereditary-spastic-paraplegia-a-case-report
#10
Takaki Taniguchi, Youichi Hokezu, Takashi Okada, Masato Ishibashi, Akihiro Hashiguchi, Eiji Matsuura, Hiroshi Takashima
We report a 44 years old man with slowly progressive muscular atrophy of the extremities for over 30 years. He experienced difficulty in walking in his 10's and was diagnosed as hereditary spastic paraplegia (HSP) in his 20's. And then, muscle atrophy of the extremities slowly progressed especially in his distal muscles. Sensory axonal neuropathy was detected with sural nerve biopsy. His father and uncle have been diagnosed as HSP in their early days. His father noticed weakness of his leg in his 20's. He lost motor function of the leg in his 60's...
October 26, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/29060107/segmentation-of-gait-sequences-using-inertial-sensor-data-in-hereditary-spastic-paraplegia
#11
Christine F Martindale, Martin Strauss, Heiko Gassner, Julia List, Meinard Muller, Jochen Klucken, Zacharias Kohl, Bjoern M Eskofier
Gait analysis is an important tool for diagnosis, monitoring and treatment of neurological diseases. Among these are hereditary spastic paraplegias (HSPs) whose main characteristic is heterogeneous gait disturbance. So far HSP gait has been analysed in a limited number of studies, and within a laboratory set up only. Although the rarity of orphan diseases often limits larger scale studies, the investigation of these diseases is still important, not only to the affect population, but also for other diseases which share gait characteristics...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/29046784/the-role-of-gene-variants-in-the-pathogenesis-of-neurodegenerative-disorders-as-revealed-by-next-generation-sequencing-studies-a-review
#12
REVIEW
Shirley Yin-Yu Pang, Kay-Cheong Teo, Jacob Shujui Hsu, Richard Shek-Kwan Chang, Miaoxin Li, Pak-Chung Sham, Shu-Leong Ho
The clinical diagnosis of neurodegenerative disorders based on phenotype is difficult in heterogeneous conditions with overlapping symptoms. It does not take into account the disease etiology or the highly variable clinical course even amongst patients diagnosed with the same disorder. The advent of next generation sequencing (NGS) has allowed for a system-wide, unbiased approach to identify all gene variants in the genome simultaneously. With the plethora of new genes being identified, genetic rather than phenotype-based classification of Mendelian diseases such as spinocerebellar ataxia (SCA), hereditary spastic paraplegia (HSP) and Charcot-Marie-Tooth disease (CMT) has become widely accepted...
2017: Translational Neurodegeneration
https://www.readbyqxmd.com/read/29034544/cyp2u1-activity-is-altered-by-missense-mutations-in-hereditary-spastic-paraplegia-56
#13
Christelle M Durand, Laura Dhers, Christelle Tesson, Alessandra Tessa, Laetitia Fouillen, Stéphanie Jacqueré, Laure Raymond, Isabelle Coupry, Giovanni Benard, Frédéric Darios, Khalid H El-Hachimi, Guja Astrea, François Rivier, Guillaume Banneau, Claire Pujol, Didier Lacombe, Alexandra Durr, Patrick J Babin, Filippo M Santorelli, Nicolas Pietrancosta, Jean-Luc Boucher, Daniel Mansuy, Giovanni Stevanin, Cyril Goizet
Hereditary Spastic Paraplegia (HSP) is an inherited disorder of the central nervous system mainly characterized by gradual spasticity and weakness of the lower limbs. SPG56 is a rare autosomal recessive early onset complicated form of HSP caused by mutations in CYP2U1. The CYP2U1 enzyme was shown to catalyze the hydroxylation of arachidonic acid. Here, we report two further SPG56 families carrying 3 novel CYP2U1 missense variants and the development of an in vitro biochemical assay to determine the pathogenicity of missense variants of uncertain clinical significance...
October 16, 2017: Human Mutation
https://www.readbyqxmd.com/read/29026558/expanded-phenotype-in-a-patient-with-spastic-paraplegia-7
#14
Jennifer Gass, Patrick R Blackburn, Jessica Jackson, Sarah Macklin, Jay van Gerpen, Paldeep S Atwal
Hereditary spastic paraplegia is a group of clinically and genetically heterogeneous neurodegenerative disorders, often characterized by weakness and spasticity in the lower limbs. In our study, we describe a spastic paraplegia type 7 patient with an expanded phenotype who was diagnosed after the discovery of pathogenic variants in SPG7.
October 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29023604/correction-targeted-high-throughput-sequencing-in-hereditary-ataxia-and-spastic-paraplegia
#15
Zafar Iqbal, Siri L Rydning, Iselin M Wedding, Jeanette Koht, Lasse Pihlstrøm, Aina H Rengmark, Sandra P Henriksen, Chantal M E Tallaksen, Mathias Toft
[This corrects the article DOI: 10.1371/journal.pone.0174667.].
2017: PloS One
https://www.readbyqxmd.com/read/28991695/monozygotic-twins-with-a-new-compound-heterozygous-spg11-mutation-and-different-disease-expression
#16
Christiane Schneider-Gold, Gabriele Dekomien, Martin Regensburger, Ruth Schneider, Nadine Trampe, Christos Krogias, Carsten Lukas, Barbara Bellenberg
BACKGROUND: A pair of monozygotic 22-year-old twins with complicated hereditary spastic paraplegia caused by a novel SPG11 mutation is described. METHODS: Genetic testing and thorough clinical examination, magnetic resonance imaging (MRI) and MR-spectroscopy were performed. RESULTS: The twins were compound heterozygous for a known frameshift as well as a novel splice site mutation in the SPG11 gene. Clinically the patients showed a similar spectrum of symptoms but different disease presentation...
October 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28981953/-hereditary-spastic-paraplegia-a-pedigree-with-five-cases
#17
Pingping Ning, Ran An, Yanming Xu
No abstract text is available yet for this article.
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28970574/autosomal-dominant-transmission-of-complicated-hereditary-spastic-paraplegia-due-to-a-dominant-negative-mutation-of-kif1a-spg30-gene
#18
Chong Kun Cheon, So-Hee Lim, Yoo-Mi Kim, Doyoun Kim, Na-Yoon Lee, Tae-Sung Yoon, Nam-Soon Kim, Eunjoon Kim, Jae-Ran Lee
KIF1A is a brain-specific anterograde motor protein that transports cargoes towards the plus-ends of microtubules. Many variants of the KIF1A gene have been associated with neurodegenerative diseases and developmental delay. Homozygous mutations of KIF1A have been identified in a recessive subtype of hereditary spastic paraplegia (HSP), SPG30. In addition, KIF1A mutations have been found in pure HSP with autosomal dominant inheritance. Here we report the first case of familial complicated HSP with a KIF1A mutation transmitted in autosomal dominant inheritance...
October 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28967438/identification-of-specific-gait-patterns-in-patients-with-cerebellar-ataxia-spastic-paraplegia-and-parkinson-s-disease-a-non-hierarchical-cluster-analysis
#19
Mariano Serrao, Giorgia Chini, Matteo Bergantino, Diego Sarnari, Carlo Casali, Carmela Conte, Alberto Ranavolo, Christian Marcotulli, Martina Rinaldi, Gianluca Coppola, Fabiano Bini, Francesco Pierelli, Franco Marinozzi
Patients with degenerative neurological diseases such as cerebellar ataxia, spastic paraplegia, and Parkinson's disease often display progressive gait function decline that inexorably impacts their autonomy and quality of life. Therefore, considering the related social and economic costs, one of the most important areas of intervention in neurorehabilitation should be the treatment of gait abnormalities. This study aims to determine whether an entire dataset of gait parameters recorded in patients with degenerative neurological diseases can be clustered into homogeneous groups distinct from each other and from healthy subjects...
September 26, 2017: Human Movement Science
https://www.readbyqxmd.com/read/28957403/gene-selection-tool-gst-a-r-based-tool-for-genetic-disorders-based-on-the-sliding-window-proportion-test-using-whole-exome-sequencing-data
#20
Sugi Lee, Minah Jung, Jaeeun Jung, Kunhyang Park, Jea-Woon Ryu, Jeongkil Kim, Dae-Soo Kim
Whole-exome sequencing (WES) can identify causative mutations in hereditary diseases. However, WES data might have a large candidate variant list, including false positives. Moreover, in families, it is more difficult to select disease-associated variants because many variants are shared among members. To reduce false positives and extract accurate candidates, we used a multilocus variant instead of a single-locus variant (SNV). We set up a specific window to analyze the multilocus variant and devised a sliding-window approach to observe all variants...
2017: PloS One
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