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Hereditary spastic paraplegia

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https://www.readbyqxmd.com/read/29327099/-genetics-of-tremor
#1
REVIEW
G Kuhlenbäumer, F Hopfner
BACKGROUND: Tremor is a symptom of many diseases and can constitute a disease of its own: essential tremor. OBJECTIVE: The genetics of essential tremor and differential diagnosis of monogenic diseases with the symptom tremor. MATERIAL AND METHODS: Literature search and search of clinical genetics databases, e.g. OMIM, GeneReviews, MDSGene and the German Neurological Society (DGN) guidelines. RESULTS: The genetics of essential tremor remain unresolved in spite of large, adequately powered studies...
January 11, 2018: Der Nervenarzt
https://www.readbyqxmd.com/read/29310658/the-involvement-of-endoplasmic-reticulum-formation-and-protein-synthesis-efficiency-in-vcp-and-atl1-related-neurological-disorders
#2
REVIEW
Yu-Tzu Shih, Yi-Ping Hsueh
The endoplasmic reticulum (ER) is the biggest organelle in cells and is involved in versatile cellular processes. Formation and maintenance of ER morphology are regulated by a series of proteins controlling membrane fusion and curvature. At least six different ER morphology regulators have been demonstrated to be involved in neurological disorders-including Valosin-containing protein (VCP), Atlastin-1 (ATL1), Spastin (SPAST), Reticulon 2 (RTN2), Receptor expression enhancing protein 1 (REEP1) and RAB10-suggesting a critical role of ER formation in neuronal activity and function...
January 8, 2018: Journal of Biomedical Science
https://www.readbyqxmd.com/read/29284203/severe-methylenetetrahydrofolate-reductase-mthfr-deficiency-a-rare-treatable-cause-of-complicated-hereditary-spastic-paraplegia
#3
Alessia Perna, Marcella Masciullo, Anna Modoni, Elena Cellini, Elena Parrini, Enzo Ricci, Alice M Donati, Gabriella Silvestri
BACKGROUND: Juvenile or adult onset forms of severe 5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency manifesting as complicated hereditary spastic paraplegia have been rarely described. METHODS: Two siblings with mental retardation developed a progressive spastic paraparesis in their late teens. Their diagnostic assessment included extensive neurophysiologic, neuroimaging and metabolic studies. RESULTS: Brain MRI showed occipital white matter alterations; EMG documented a mixed polyneuropathy...
December 28, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29278326/functional-contribution-of-the-spastic-paraplegia-related-triglyceride-hydrolase-ddhd2-to-the-formation-and-content-of-lipid-droplets
#4
Jordon M Inloes, William B Kiosses, Huajin Wang, Tobias C Walther, Robert V Farese, Benjamin F Cravatt
Deleterious mutations in the serine lipase DDHD2 are a causative basis of complex hereditary spastic paraplegia (HSP, subtype SPG54) in humans. We recently found that DDHD2 is a principal triglyceride hydrolase in the central nervous system (CNS) and that genetic deletion of this enzyme in mice leads to ectopic lipid droplet (LD) accumulation in neurons throughout the brain. Nonetheless, how HSP-related mutations in DDHD2 relate to triglyceride metabolism and LD formation remains poorly understood. Here, we have characterized a set of HSP-related mutations in DDHD2 and found that they disrupt triglyceride hydrolase activity in vitro and impair the capacity of DDHD2 to protect cells from LD accumulation following exposure to free fatty acid, an outcome that was also observed with a DDHD2-selective inhibitor...
December 26, 2017: Biochemistry
https://www.readbyqxmd.com/read/29249364/resting-state-fmri-studies-in-spg4-linked-hereditary-spastic-paraplegia
#5
Xinxin Liao, Mufang Huang, Wu Xing, Xinwei Wu, Weihua Liao, Xiaoyi Wang, Beisha Tang, Lu Shen
OBJECTIVE: The study aimed to investigate the functional alterations of spontaneous brain activity in patients with spastic paraplegia type 4 (SPG4), and the relationship with the severity of spasticity. METHODS: Twelve patients with SPG4 and ten healthy controls underwent resting-state functional magnetic resonance imaging (rs-fMRI). Amplitude of low-frequency fluctuation (ALFF) and regional homogeneity (ReHo) were used to characterize regional neural function, and functional connectivity (FC) was used to evaluate the functional integration of the brain network...
January 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29248984/different-cerebellar-ataxia-phenotypes-associated-with-mutations-of-the-pnpla6-gene-in-brazilian-patients-with-recessive-ataxias
#6
Hélio Afonso Ghizoni Teive, Carlos Henrique F Camargo, Mario Teruo Sato, Naoye Shiokawa, Cesar L Boguszewski, Salmo Raskin, Cassandra Buck, Stephanie B Seminara, Renato Puppi Munhoz
Autosomal recessive cerebellar ataxias (ARCAs) represent a heterogeneous group of inherited disorders. The association of early-onset cerebellar ataxia with hypogonadotropic hypogonadism is related to two syndromes, known as Gordon Holmes syndrome (GHS-ataxia and pyramidal signs with hypogonadotropic hypogonadism) and Boucher-Neuhäuser syndrome (BNS-ataxia with chorioretinal dystrophy). Mutations in the PNPLA6 gene have been identified as the cause of hereditary spastic paraplegia and complex forms of ataxia associated with retinal and endocrine manifestations...
December 16, 2017: Cerebellum
https://www.readbyqxmd.com/read/29246610/clinical-and-molecular-characterization-of-hereditary-spastic-paraplegias-a-next-generation-sequencing-panel-approach
#7
Daniela Burguez, Márcia Polese-Bonatto, Laís Alves Jacinto Scudeiro, Ingemar Björkhem, Ludger Schöls, Laura Bannach Jardim, Ursula Matte, Maria Luiza Saraiva-Pereira, Marina Siebert, Jonas Alex Morales Saute
BACKGROUND: Molecular diagnosis of hereditary spastic paraplegias (HSP) is a difficult task due to great clinical and genetic heterogeneity. We aimed to characterize clinical and molecular findings of HSP families from Rio Grande do Sul, Brazil; and to evaluate the diagnostic yield of a next-generation sequencing (NGS) panel with twelve HSP-related genes. METHODS: A consecutive series of HSP index cases with familial recurrence of spasticity, consanguinity or thin corpus callosum (TCC) were included in this cross-sectional study...
December 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29246608/patterns-and-modulations-of-pendular-nystagmus-in-a-family-with-hereditary-spastic-paraplegia
#8
Eun Hye Oh, Jae-Hyeok Lee, Jin-Hong Shin, Hyang-Sook Kim, Ji-Soo Kim, Hyo-Jung Kim, Seo-Young Choi, Kwang-Dong Choi, David S Zee, Jae-Hwan Choi
Hereditary spastic paraplegia (HSP) is characterized by progressive spasticity and weakness of the lower extremities. Additional findings include ataxia, extrapyramidal signs, and dementia. Pendular nystagmus (PN) has been reported in some subtypes of HSP caused by PLP1 (SPG2) or paraplegin (SPG7) mutation. To describe the patterns and modulation of PN in HSP, we performed eye movement recording using video-oculography in a Korean family with HSP and PN. The PN was convergent-divergent in the oblique plane with a frequency of 6 to 7Hz and maximum amplitude at about 1...
December 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29236946/reply-polr3a-variants-in-hereditary-spastic-paraplegia-and-ataxia
#9
Martina Minnerop, Delia Kurzwelly, Tim W Rattay, Dagmar Timmann, Holger Hengel, Matthis Synofzik, Claudia Stendel, Rita Horvath, Rebecca Schüle, Alfredo Ramirez
No abstract text is available yet for this article.
December 11, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29236826/hereditary-spastic-paraplegia-from-1880-to-2017-an-historical-review
#10
Ingrid Faber, Eduardo Rafael Pereira, Alberto R M Martinez, Marcondes França, Hélio Afonso Ghizoni Teive
The authors have constructed a brief timeline of major clinical research related to hereditary spastic paraplegia (HSP). This timeline summarizes the evolution of HSP research, from the first clinical descriptions by Adolf von Strümpell in 1880 to the present day, with the transformation of these diseases into a rapidly-growing and heterogeneous group of neurogenetic diseases.
November 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29234670/mitochondrial-energy-metabolism-is-required-for-lifespan-extension-by-the-spastic-paraplegia-associated-protein-spartin
#11
Julia Ring, Patrick Rockenfeller, Claudia Abraham, Jelena Tadic, Michael Poglitsch, Katherina Schimmel, Julia Westermayer, Simon Schauer, Bettina Achleitner, Christa Schimpel, Barbara Moitzi, Gerald N Rechberger, Stephan J Sigrist, Didac Carmona-Gutierrez, Guido Kroemer, Sabrina Büttner, Tobias Eisenberg, Frank Madeo
Hereditary spastic paraplegias, a group of neurodegenerative disorders, can be caused by loss-of-function mutations in the protein spartin. However, the physiological role of spartin remains largely elusive. Here we show that heterologous expression of human or Drosophila spartin extends chronological lifespan of yeast, reducing age-associated ROS production, apoptosis, and necrosis. We demonstrate that spartin localizes to the proximity of mitochondria and physically interacts with proteins related to mitochondrial and respiratory metabolism...
November 30, 2017: Microbial Cell
https://www.readbyqxmd.com/read/29234271/the-enigmatic-role-of-gba2-in-controlling-locomotor-function
#12
REVIEW
Marina A Woeste, Dagmar Wachten
The non-lysosomal glucosylceramidase GBA2 catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. Loss of GBA2 function results in accumulation of glucosylceramide. Mutations in the human GBA2 gene have been associated with hereditary spastic paraplegia (HSP) and autosomal-recessive cerebellar ataxia (ARCA). Patients suffering from these disorders exhibit impaired locomotion and neurological abnormalities. GBA2 mutations found in these patients have been proposed to impair GBA2 function. However, the molecular mechanism underlying the occurrence of mutations in the GBA2 gene and the development of locomotor dysfunction is not well-understood...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29228183/plasma-oxysterols-biomarkers-for-diagnosis-and-treatment-in-spastic-paraplegia-type-5
#13
Cecilia Marelli, Foudil Lamari, Dominique Rainteau, Alexandre Lafourcade, Guillaume Banneau, Lydie Humbert, Marie-Lorraine Monin, Elodie Petit, Rabab Debs, Giovanni Castelnovo, Elisabeth Ollagnon, Julie Lavie, Julie Pilliod, Isabelle Coupry, Patrick J Babin, Claire Guissart, Imen Benyounes, Urielle Ullmann, Gaetan Lesca, Christel Thauvin-Robinet, Pierre Labauge, Sylvie Odent, Claire Ewenczyk, Claude Wolf, Giovanni Stevanin, David Hajage, Alexandra Durr, Cyril Goizet, Fanny Mochel
The hereditary spastic paraplegias are an expanding and heterogeneous group of disorders characterized by spasticity in the lower limbs. Plasma biomarkers are needed to guide the genetic testing of spastic paraplegia. Spastic paraplegia type 5 (SPG5) is an autosomal recessive spastic paraplegia due to mutations in CYP7B1, which encodes a cytochrome P450 7α-hydroxylase implicated in cholesterol and bile acids metabolism. We developed a method based on ultra-performance liquid chromatography electrospray tandem mass spectrometry to validate two plasma 25-hydroxycholesterol (25-OHC) and 27-hydroxycholesterol (27-OHC) as diagnostic biomarkers in a cohort of 21 patients with SPG5...
December 8, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29228109/polr3a-variants-in-hereditary-spastic-paraplegia-and-ataxia
#14
Laurence Gauquelin, Martine Tétreault, Isabelle Thiffault, Emily Farrow, Neil Miller, Byunggil Yoo, Eric Bareke, Grace Yoon, Oksana Suchowersky, Nicolas Dupré, Mark Tarnopolsky, Bernard Brais, Nicole I Wolf, Jacek Majewski, Guy A Rouleau, Ziv Gan-Or, Geneviève Bernard
No abstract text is available yet for this article.
December 8, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29214587/rare-neurodegenerative-diseases-clinical-and-genetic-update
#15
Antoni Matilla-Dueñas, Marc Corral-Juan, Agustí Rodríguez-Palmero Seuma, Dolores Vilas, Lourdes Ispierto, Sara Morais, Jorge Sequeiros, Isabel Alonso, Víctor Volpini, Carmen Serrano-Munuera, Guillem Pintos-Morell, Ramiro Álvarez, Ivelisse Sánchez
More than 600 human disorders afflict the nervous system. Of these, neurodegenerative diseases are usually characterised by onset in late adulthood, progressive clinical course, and neuronal loss with regional specificity in the central nervous system. They include Alzheimer's disease and other less frequent dementias, brain cancer, degenerative nerve diseases, encephalitis, epilepsy, genetic brain disorders, head and brain malformations, hydrocephalus, stroke, Parkinson's disease, multiple sclerosis, amyotrophic lateral sclerosis (ALS or Lou Gehrig's Disease), Huntington's disease, and Prion diseases, among others...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29209898/clinical-application-of-next-generation-sequencing-in-hereditary-spinocerebellar-ataxia-increasing-the-diagnostic-yield-and-broadening-the-ataxia-spasticity-spectrum-a-retrospective-analysis
#16
REVIEW
Daniele Galatolo, Alessandra Tessa, Alessandro Filla, Filippo M Santorelli
One of the hardest challenges in medical genetics is to reach a molecular diagnosis in the presence of rare brain disorders. Hereditary spinocerebellar ataxia (HA), characterized by high clinical and genetic heterogeneity, is among the diseases that present this challenge. HA can have features overlapping with those of other neurological diseases, especially hereditary spastic paraplegia (HSP), as routine clinical application of next generation sequencing (NGS) has confirmed. This article reviews different NGS methods applied in heterogeneous cohorts of patients with suspected HA and suggests that exome sequencing should be considered the first-tier genetic approach in this setting...
December 6, 2017: Neurogenetics
https://www.readbyqxmd.com/read/29193663/clinical-and-genetic-characterization-of-ap4b1-associated-spg47
#17
Darius Ebrahimi-Fakhari, Chi Cheng, Kira Dies, Amelia Diplock, Danielle B Pier, Conor S Ryan, Brendan C Lanpher, Jennifer Hirst, Wendy K Chung, Mustafa Sahin, Elisabeth Rosser, Basil Darras, James T Bennett
The hereditary spastic paraplegias (HSPs) are a heterogeneous group of disorders characterized by degeneration of the corticospinal and spinocerebellar tracts leading to progressive spasticity. One subtype, spastic paraplegia type 47 (SPG47 or HSP-AP4B1), is due to bi-allelic loss-of-function mutations in the AP4B1 gene. AP4B1 is a subunit of the adapter protein complex 4 (AP-4), a heterotetrameric protein complex that regulates the transport of membrane proteins. Since 2011, 11 individuals from six families with AP4B1 mutations have been reported, nine of whom had homozygous mutations and were from consanguineous families...
November 28, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29180453/a-hereditary-spastic-paraplegia-associated-atlastin-variant-exhibits-defective-allosteric-coupling-in-the-catalytic-core
#18
John P O'Donnell, Laura J Byrnes, Richard B Cooley, Holger Sondermann
The dynamin-related GTPase atlastin (ATL) catalyzes membrane fusion of the endoplasmic reticulum (ER) and thus establishes a network of branched membrane tubules. When ATL function is compromised, the morphology of the ER deteriorates, and these defects can result in neurological disorders such as hereditary spastic paraplegia (HSP) and hereditary sensory neuropathy (HSN). ATLs harness the energy of GTP hydrolysis to initiate a series of conformational changes that enable homodimerization and subsequent membrane fusion...
November 27, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29180427/ap-4-mediates-export-of-atg9a-from-the-trans-golgi-network-to-promote-autophagosome-formation
#19
Rafael Mattera, Sang Yoon Park, Raffaella De Pace, Carlos M Guardia, Juan S Bonifacino
AP-4 is a member of the heterotetrameric adaptor protein (AP) complex family involved in protein sorting in the endomembrane system of eukaryotic cells. Interest in AP-4 has recently risen with the discovery that mutations in any of its four subunits cause a form of hereditary spastic paraplegia (HSP) with intellectual disability. The critical sorting events mediated by AP-4 and the pathogenesis of AP-4 deficiency, however, remain poorly understood. Here we report the identification of ATG9A, the only multispanning membrane component of the core autophagy machinery, as a specific AP-4 cargo...
November 27, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29169913/the-strategic-function-of-the-p5-atpase-atp13a2-in-toxic-waste-disposal
#20
Felicitas de Tezanos Pinto, Hugo Pedro Adamo
The P-type ATPase ATP13A2 protein was originally associated with a form of Parkinson's Disease (PD) known as Kufor Rakeb Syndrome (KRS). However, in the last years it has been found to underlay variants of neuronal ceroid-lipofuscinoses and hereditary spastic paraplegia. These findings expand the clinical and genetic spectrum of ATP13A2-associated disorders, which are commonly characterized by lysosomal dysfunction. Nowadays it is well known that lysosomes are not merely related to the degradation and recycling of cellular waste, but are also involved in fundamental processes such as secretion, plasma membrane repair, signaling, energy metabolism and autophagy...
November 20, 2017: Neurochemistry International
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