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https://www.readbyqxmd.com/read/29482223/efficacy-of-exome-targeted-capture-sequencing-to-detect-mutations-in-known-cerebellar-ataxia-genes
#1
Marie Coutelier, Monia B Hammer, Giovanni Stevanin, Marie-Lorraine Monin, Claire-Sophie Davoine, Fanny Mochel, Pierre Labauge, Claire Ewenczyk, Jinhui Ding, J Raphael Gibbs, Didier Hannequin, Judith Melki, Annick Toutain, Vincent Laugel, Sylvie Forlani, Perrine Charles, Emmanuel Broussolle, Stéphane Thobois, Alexandra Afenjar, Mathieu Anheim, Patrick Calvas, Giovanni Castelnovo, Thomas de Broucker, Marie Vidailhet, Antoine Moulignier, Robert T Ghnassia, Chantal Tallaksen, Cyril Mignot, Cyril Goizet, Isabelle Le Ber, Elisabeth Ollagnon-Roman, Jean Pouget, Alexis Brice, Andrew Singleton, Alexandra Durr
Importance: Molecular diagnosis is difficult to achieve in disease groups with a highly heterogeneous genetic background, such as cerebellar ataxia (CA). In many patients, candidate gene sequencing or focused resequencing arrays do not allow investigators to reach a genetic conclusion. Objectives: To assess the efficacy of exome-targeted capture sequencing to detect mutations in genes broadly linked to CA in a large cohort of undiagnosed patients and to investigate their prevalence...
February 26, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29467464/loss-of-the-drosophila-m-aaa-mitochondrial-protease-paraplegin-results-in-mitochondrial-dysfunction-shortened-lifespan-and-neuronal-and-muscular-degeneration
#2
Gautam Pareek, Ruth E Thomas, Leo J Pallanck
The progressive accumulation of dysfunctional mitochondria is implicated in aging and in common diseases of the elderly. To oppose this occurrence, organisms employ a variety of strategies, including the selective degradation of oxidatively damaged and misfolded mitochondrial proteins. Genetic studies in yeast indicate that the ATPase Associated with diverse cellular Activities (AAA+ ) family of mitochondrial proteases account for a substantial fraction of this protein degradation, but their metazoan counterparts have been little studied, despite the fact that mutations in the genes encoding these proteases cause a variety of human diseases...
February 21, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29451229/m-aaa-proteases-mitochondrial-calcium-homeostasis-and-neurodegeneration
#3
REVIEW
Maria Patron, Hans-Georg Sprenger, Thomas Langer
The function of mitochondria depends on ubiquitously expressed and evolutionary conserved m-AAA proteases in the inner membrane. These ATP-dependent peptidases form hexameric complexes built up of homologous subunits. AFG3L2 subunits assemble either into homo-oligomeric isoenzymes or with SPG7 (paraplegin) subunits into hetero-oligomeric proteolytic complexes. Mutations in AFG3L2 are associated with dominant spinocerebellar ataxia (SCA28) characterized by the loss of Purkinje cells, whereas mutations in SPG7 cause a recessive form of hereditary spastic paraplegia (HSP7) with motor neurons of the cortico-spinal tract being predominantly affected...
February 16, 2018: Cell Research
https://www.readbyqxmd.com/read/29246610/clinical-and-molecular-characterization-of-hereditary-spastic-paraplegias-a-next-generation-sequencing-panel-approach
#4
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
#5
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/29181771/correction-to-spg7-and-impaired-emotional-communication
#6
Linwei Zhang, Karen N McFarland, S H Subramony, Kenneth M Heilman, Tetsuo Ashizawa
The original version of this article unfortunately contained an incorrect assignment of affiliations of Linwei Zhang and Tetsuo Ashizawa.
December 2017: Cerebellum
https://www.readbyqxmd.com/read/29057857/case-series-of-autosomal-recessive-hereditary-spastic-paraparesis-with-novel-mutation-in-spg-7-gene
#7
Shakya Bhattacharjee, Nicholas Beauchamp, Brian E Murray, Timothy Lynch
Autosomal recessive hereditary spastic paraparesis is rare.We present 4 patients with slowly progressive predominantly lower limb spasticity and ataxia. Only one patient had family history of ataxia but without any underlying diagnosis. All of them proved negative for the mutation of Spinocerebelalr ataxia genes SCA 1,2,3 and 6. All had mutation in the SPG 7 gene suggestive of autosomal recessive hereditary spastic paraparesis. One of the heterozygous mutatnts showed a novel c1617delC ,p(Val540fs) frameshift mutation in exon 12 of the SPG 7 gene...
October 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/29026558/expanded-phenotype-in-a-patient-with-spastic-paraplegia-7
#8
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/28969390/mutations-in-dnm1l-as-in-opa1-result-indominant-optic-atrophy-despite-opposite-effectson-mitochondrial-fusion-and-fission
#9
Sylvie Gerber, Majida Charif, Arnaud Chevrollier, Tanguy Chaumette, Claire Angebault, Mariame Selma Kane, Aurélien Paris, Jennifer Alban, Mélanie Quiles, Cécile Delettre, Dominique Bonneau, Vincent Procaccio, Patrizia Amati-Bonneau, Pascal Reynier, Stéphanie Leruez, Raphael Calmon, Nathalie Boddaert, Benoit Funalot, Marlène Rio, Didier Bouccara, Isabelle Meunier, Hiromi Sesaki, Josseline Kaplan, Christian P Hamel, Jean-Michel Rozet, Guy Lenaers
Dominant optic atrophy is a blinding disease due to the degeneration of the retinal ganglion cells, the axons of which form the optic nerves. In most cases, the disease is caused by mutations in OPA1, a gene encoding a mitochondrial large GTPase involved in cristae structure and mitochondrial network fusion. Using exome sequencing, we identified dominant mutations in DNM1L on chromosome 12p11.21 in three large families with isolated optic atrophy, including the two families that defined the OPA5 locus on chromosome 19q12...
October 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28933964/identification-of-novel-spg11-mutations-in-a-cohort-of-chinese-families-with-hereditary-spastic-paraplegia
#10
Juan Du, Ya-Cen Hu, Bei-Sha Tang, Hong Jiang, Lu Shen
AIM OF THE STUDY: To investigate the mutation frequency of SPG11, SPG15, SPG5 and SPG7 in China. MATERIALS AND METHODS: We have scanned the whole exons of KIAA1840, ZFYVE26, SPG7 and CYP7B1 genes in a group of 36 unrelated Chinese ARHSP families. RESULTS: SPG11 mutations were found in 33.33% (12/36) of ARHSP patients in our study, and no mutation was identified in SPG15, SPG5 or SPG7 genes. Among the SPG11 mutations detected, c.1755_1758delAGCA/p...
February 2018: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28716262/new-genetic-causes-for-complex-hereditary-spastic-paraplegia
#11
Paulo Victor Sgobbi de Souza, Thiago Bortholin, Renan Braido Dias, Marco Antônio Troccoli Chieia, Stênio Burlin, Fernando George Monteiro Naylor, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira
INTRODUCTION: Hereditary Spastic Paraplegia (HSP) represents a complex and heterogeneous group of rare neurodegenerative disorders that share a common clinical feature of weakness and lower limb spasticity that can occur alone or in combination with a constellation of other neurological or systemic signs and symptoms. Although the core clinical feature of weakness and lower limb spasticity is virtually universal, the genetic heterogeneity is almost uncountable with more than 70 genetic forms described so far...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28444220/a-panel-study-on-patients-with-dominant-cerebellar-ataxia-highlights-the-frequency-of-channelopathies
#12
Marie Coutelier, Giulia Coarelli, Marie-Lorraine Monin, Juliette Konop, Claire-Sophie Davoine, Christelle Tesson, Rémi Valter, Mathieu Anheim, Anthony Behin, Giovanni Castelnovo, Perrine Charles, Albert David, Claire Ewenczyk, Mélanie Fradin, Cyril Goizet, Didier Hannequin, Pierre Labauge, Florence Riant, Pierre Sarda, Yves Sznajer, François Tison, Urielle Ullmann, Lionel Van Maldergem, Fanny Mochel, Alexis Brice, Giovanni Stevanin, Alexandra Durr
Autosomal dominant cerebellar ataxias have a marked heterogeneous genetic background, with mutations in 34 genes identified so far. This large amount of implicated genes accounts for heterogeneous clinical presentations, making genotype-phenotype correlations a major challenge in the field. While polyglutamine ataxias, linked to CAG repeat expansions in genes such as ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A and TBP, have been extensively characterized in large cohorts, there is a need for comprehensive assessment of frequency and phenotype of more 'conventional' ataxias...
June 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28396416/proteolytic-control-of-the-mitochondrial-calcium-uniporter-complex
#13
Chen-Wei Tsai, Yujiao Wu, Ping-Chieh Pao, Charles B Phillips, Carole Williams, Christopher Miller, Matthew Ranaghan, Ming-Feng Tsai
The mitochondrial calcium uniporter is a Ca2+ -activated Ca2+ channel complex mediating mitochondrial Ca2+ uptake, a process crucial for Ca2+ signaling, bioenergetics, and cell death. The uniporter is composed of the pore-forming MCU protein, the gatekeeping MICU1 and MICU2 subunits, and EMRE, a single-pass membrane protein that links MCU and MICU1 together. As a bridging subunit required for channel function, EMRE could paradoxically inhibit uniporter complex formation if expressed in excess. Here, we show that mitochondrial mAAA proteases AFG3L2 and SPG7 rapidly degrade unassembled EMRE using the energy of ATP hydrolysis...
April 25, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28195350/overcoming-the-divide-between-ataxias-and-spastic-paraplegias-shared-phenotypes-genes-and-pathways
#14
REVIEW
Matthis Synofzik, Rebecca Schüle
Autosomal-dominant spinocerebellar ataxias, autosomal-recessive spinocerebellar ataxias, and hereditary spastic paraplegias have traditionally been designated in separate clinicogenetic disease classifications. This classification system still largely frames clinical thinking and genetic workup in clinical practice. Yet, with the advent of next-generation sequencing, phenotypically unbiased studies have revealed the limitations of this classification system. Various genes (eg, SPG7, SYNE1, PNPLA6) traditionally rooted in either the ataxia or hereditary spastic paraplegia classification system have now been shown to cause ataxia on the one end of the disease continuum and hereditary spastic paraplegia on the other...
March 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27965395/causes-of-progressive-cerebellar-ataxia-prospective-evaluation-of-1500-patients
#15
M Hadjivassiliou, J Martindale, P Shanmugarajah, R A Grünewald, P G Sarrigiannis, N Beauchamp, K Garrard, R Warburton, D S Sanders, D Friend, S Duty, J Taylor, N Hoggard
BACKGROUND: Cerebellar ataxias are the result of diverse disease processes that can be genetic or acquired. Establishing a diagnosis requires a methodical approach with expert clinical evaluation and investigations. We describe the causes of ataxia in 1500 patients with cerebellar ataxia. METHODS: All patients were referred to the Sheffield Ataxia Centre, UK, and underwent extensive investigations, including, where appropriate genetic testing using next-generation sequencing (NGS)...
April 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27957547/clinical-and-genetic-study-of-hereditary-spastic-paraplegia-in-canada
#16
Nicolas Chrestian, Nicolas Dupré, Ziv Gan-Or, Anna Szuto, Shiyi Chen, Anil Venkitachalam, Jean-Denis Brisson, Jodi Warman-Chardon, Sohnee Ahmed, Setareh Ashtiani, Heather MacDonald, Noreen Mohsin, Karim Mourabit-Amari, Pierre Provencher, Kym M Boycott, Dimitri J Stavropoulos, Patrick A Dion, Peter N Ray, Oksana Suchowersky, Guy A Rouleau, Grace Yoon
OBJECTIVE: To describe the clinical, genetic, and epidemiologic features of hereditary spastic paraplegia (HSP) in Canada and to determine which clinical, radiologic, and genetic factors determine functional outcomes for patients with HSP. METHODS: We conducted a multicenter observational study of patients who met clinical criteria for the diagnosis of HSP in the provinces of Alberta, Ontario, and Quebec from 2012 to 2015. Characteristics of the participants were analyzed using descriptive statistics...
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/27847565/proteomic-analysis-of-a-rat-cerebral-ischemic-injury-model-after-human-cerebral-endothelial-cell-transplantation
#17
Tae-Min Choi, Misun Yun, Jung-Kil Lee, Jong-Tae Park, Man-Seok Park, Hyung-Seok Kim
OBJECTIVE: Cerebral endothelial cells have unique biological features and are fascinating candidate cells for stroke therapy. METHODS: In order to understand the molecular mechanisms of human cerebral endothelial cell (hCMEC/D3) transplantation in a rat stroke model, we performed proteomic analysis using 2-dimensional electrophoresis and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Protein expression was confirmed by quantitative real-time PCR and Western blot...
November 2016: Journal of Korean Neurosurgical Society
https://www.readbyqxmd.com/read/27790088/rare-variants-in-neurodegeneration-associated-genes-revealed-by-targeted-panel-sequencing-in-a-german-als-cohort
#18
Stefanie Krüger, Florian Battke, Andrea Sprecher, Marita Munz, Matthis Synofzik, Ludger Schöls, Thomas Gasser, Torsten Grehl, Johannes Prudlo, Saskia Biskup
Amyotrophic lateral sclerosis (ALS) is a progressive fatal multisystemic neurodegenerative disorder caused by preferential degeneration of upper and lower motor neurons. To further delineate the genetic architecture of the disease, we used comprehensive panel sequencing in a cohort of 80 German ALS patients. The panel covered 39 confirmed ALS genes and candidate genes, as well as 238 genes associated with other entities of the neurodegenerative disease spectrum. In addition, we performed repeat length analysis for C9orf72...
2016: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/27609023/a-19-gene-expression-signature-as-a-predictor-of-survival-in-colorectal-cancer
#19
Nurul Ainin Abdul Aziz, Norfilza M Mokhtar, Roslan Harun, Md Manir Hossain Mollah, Isa Mohamed Rose, Ismail Sagap, Azmi Mohd Tamil, Wan Zurinah Wan Ngah, Rahman Jamal
BACKGROUND: Histopathological assessment has a low potential to predict clinical outcome in patients with the same stage of colorectal cancer. More specific and sensitive biomarkers to determine patients' survival are needed. We aimed to determine gene expression signatures as reliable prognostic marker that could predict survival of colorectal cancer patients with Dukes' B and C. METHODS: We examined microarray gene expression profiles of 78 archived tissues of patients with Dukes' B and C using the Illumina DASL assay...
September 8, 2016: BMC Medical Genomics
https://www.readbyqxmd.com/read/27557734/spg7-and-impaired-emotional-communication
#20
Linwei Zhang, Karen N McFarland, S H Subramony, Kenneth M Heilman, Tetsuo Ashizawa
The goal of this report is to describe the genetic mutations of a patient with cerebellar degeneration who had ataxia and impaired emotional communication that led to damage of family relationships. We extracted genomic DNA from peripheral blood lymphocytes and performed whole exome sequencing (WES) in this patient and his unaffected parents and siblings. Found mutations were confirmed by Sanger sequencing in each individual. We found compound heterozygous mutations in the paraplegin (SPG7) gene. One mutated allele has been previously described as a disease-causing missense mutation for spastic paraplegia type 7 (SPG7) (c...
April 2017: Cerebellum
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