keyword
MENU ▼
Read by QxMD icon Read
search

arsacs

keyword
https://www.readbyqxmd.com/read/28870592/computer-based-assessment-of-upper-limb-incoordination-in-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay-patients-a-pilot-study
#1
Hung Tien Bui, Olivier Audet, Jean Mathieu, Cynthia Gagnon, Mario Leone
Ataxia refers to a group of neurological disorders characterized by a lack of coordination during voluntary movements. One of the most commonly used tests to assess upper-limb coordination is the Archimedes spiral test. The purpose of this research is to present an innovative computer-based Archimedes spiral test that can accurately assess coordination. Forty nine individuals (age: 25.2±7.1years) were recruited including thirteen patients diagnosed with Autosomal Recessive Spastic Ataxia of Charlevoix/Saguenay (ARSACS)...
September 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28843771/autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay-arsacs-a-polish-family-with-novel-sacs-mutations
#2
Magdalena Krygier, Agnieszka Konkel, Michał Schinwelski, Małgorzata Rydzanicz, Anna Walczak, Magdalena Sildatke-Bauer, Rafał Płoski, Jarosław Sławek
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare hereditary ataxia, characterized by the triad of early-onset cerebellar ataxia, peripheral sensorimotor neuropathy and lower limb spasticity. Although ARSACS is increasingly reported worldwide, we present the first Polish family with a comprehensive clinical and neuropsychological assessment, harboring two novel mutations in the SACS gene. Our results demonstrate the variability in cognitive and behavioral profiles in ARSACS, which is in line with other heredodegenerative ataxias...
August 17, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28658676/a-novel-homozygous-sacs-mutation-identified-by-whole-exome-sequencing-in-a-consanguineous-family-with-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay
#3
Hui Zeng, Jian-Guang Tang, Yi-Feng Yang, Zhi-Ping Tan, Jie-Qiong Tan
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a hereditary neurological disorder mostly manifested with a classical triad: progressive early-onset cerebellar ataxia, lower limb pyramidal signs, and peripheral neuropathy. We employed whole-exome sequencing and bioinformatics to identify the genetic cause in an ARSACS patient from a consanguineous family. Based on whole-exome sequences of the patient and her healthy parents, a novel homozygous deletion variant (NM_014363: c.9495_9508del; p...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28658401/autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay-a-family-report-from-south-brazil
#4
Daniela Burguêz, Camila Maria de Oliveira, Marcio Aloísio Bezerra Cavalcanti Rockenbach, Helena Fussiger, Leonardo Modesti Vedolin, Pablo Brea Winckler, Marcelo Krieger Maestri, Alessandro Finkelsztejn, Filippo Maria Santorelli, Laura Bannach Jardim, Jonas Alex Morales Saute
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset, neurodegenerative disorder caused by mutations in SACS, firstly reported in Quebec, Canada. The disorder is typically characterized by childhood onset ataxia, spasticity, neuropathy and retinal hypermyelination. The clinical picture of patients born outside Quebec, however, is often atypical. In the present article, the authors describe clinical and neuroradiological findings that raised the suspicion of an ARSACS diagnosis in two female cousins with Germanic background from Rio Grande do Sul, Brazil...
June 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28588446/purkinje-cell-degeneration-and-motor-coordination-deficits-in-a-new-mouse-model-of-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay
#5
Man Ding, Chao Weng, Shanghua Fan, Qian Cao, Zuneng Lu
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disorder. In 2007, a novel locus, SAX2, which is located on chromosome 17p13 and contains 3 genes, ankyrin repeat and FYVE domain-containing 1 (ANKFY1), β-arrestin 2 (ARRB2) and kinesin family member 1C (KIF1C), was linked to ARSACS. We generated Ankfy1 heterozygous (Ankfy1/+) mice to establish an animal model and examine the pathophysiological basis of ARSACS. The transgenic mice displayed an abnormal gait with progressive motor and cerebellar nerve dysfunction that was highly reminiscent of ARSACS...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28535259/altered-organization-of-the-intermediate-filament-cytoskeleton-and-relocalization-of-proteostasis-modulators-in-cells-lacking-the-ataxia-protein-sacsin
#6
Emma J Duncan, Roxanne Larivière, Teisha Y Bradshaw, Fabiana Longo, Nicolas Sgarioto, Matthew J Hayes, Lisa E L Romano, Suran Nethisinghe, Paola Giunti, Michaela B Bruntraeger, Heather D Durham, Bernard Brais, Francesca Maltecca, Benoit J Gentil, J Paul Chapple
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations in the gene SACS, encoding the 520 kDa protein sacsin. Although sacsin's physiological role is largely unknown, its sequence domains suggest a molecular chaperone or protein quality control function. Consequences of its loss include neurofilament network abnormalities, specifically accumulation and bundling of perikaryal and dendritic neurofilaments. To investigate if loss of sacsin affects intermediate filaments more generally, the distribution of vimentin was analysed in ARSACS patient fibroblasts and in cells where sacsin expression was reduced...
August 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28419508/experience-of-carrier-couples-identified-through-a-population-based-carrier-screening-pilot-program-for-four-founder-autosomal-recessive-diseases-in-saguenay-lac-saint-jean
#7
Jessica Tardif, Annabelle Pratte, Anne-Marie Laberge
A pilot population-based carrier screening program started in 2010 in the Saguenay-Lac-Saint-Jean region of Quebec, Canada, for four recessive diseases with local founder effects (tyrosinemia type I, autosomal recessive spastic ataxia of Charlevoix-Saguenay, congenital lactic acidosis, and Andermann syndrome). OBJECTIVES: The objective of this study was to describe the experience of carrier couples identified through this program. METHODS: Semi-structured interviews were performed with carrier couples...
April 18, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28320127/measurement-properties-of-a-new-wireless-electrogoniometer-for-quantifying-spasticity-during-the-pendulum-test-in-arsacs-patients
#8
Hung Tien Bui, Cynthia Gagnon, Olivier Audet, Jean Mathieu, Mario Leone
INTRODUCTION: Autosomal recessive spastic ataxia of Charlevoix/Saguenay (ARSACS) is a neuromuscular disorder that induces spasticity in lower limbs. The Wartenberg pendulum test is a classical method of assessing lower limb spasticity based on the dynamics of the pendular leg motion. However, in its original form, this test only provides subjective results and do not allow accurate assessment of spasticity. METHODS: Thirteen ARSACS patients were assessed using a new wireless electrogoniometer to measure spasticity by quantifying oscillation amplitudes and relaxation indices during the Wartenburg pendulum test...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28064175/neuroimaging-of-inflammation-in-memory-and-related-other-disorders-nimrod-study-protocol-a-deep-phenotyping-cohort-study-of-the-role-of-brain-inflammation-in-dementia-depression-and-other-neurological-illnesses
#9
W Richard Bevan-Jones, Ajenthan Surendranathan, Luca Passamonti, Patricia Vázquez Rodríguez, Robert Arnold, Elijah Mak, Li Su, Jonathan P Coles, Tim D Fryer, Young T Hong, Guy Williams, Franklin Aigbirhio, James B Rowe, John T O'Brien
INTRODUCTION: Inflammation of the central nervous system is increasingly regarded as having a role in cognitive disorders such as dementia and depression, but it is not clear how such inflammation relates to other aspects of neuropathology, structural and functional changes in the brain and symptoms (as assessed via clinical and neuropsychological assessment and MRI). This study will explore these pathophysiological mechanisms using positron emission tomography (PET) which allows in vivo imaging of inflammation, amyloid and τ deposition, together with neuropsychological profiling, MRI and peripheral biomarker analysis...
January 7, 2017: BMJ Open
https://www.readbyqxmd.com/read/28009664/effectiveness-of-non-pharmacological-interventions-for-the-prevention-and-management-of-psychological-and-social-morbidity-in-women-who-have-an-elective-abortion-a-systematic-review-protocol
#10
María Dolores Castillo-Bueno, Josefa Patricia Moreno-Pina, Maria Angeles Castaño-Molina, Marta González-Sánchez, Isabel García-Arsac
The objective of this review is to synthesize the best available evidence on the effectiveness of non-pharmacological interventions for the prevention and management of psychological and social morbidity in women who have an elective abortion.The specific review question that will be addressed is: In women (aged 13 years or more) with unwanted pregnancies who decide to have an elective abortion, which non-pharmacological interventions should be provided before, during and after the elective abortion procedure both in community and hospital environments to prevent and manage psychological and social morbidity?...
December 2016: JBI Database of Systematic Reviews and Implementation Reports
https://www.readbyqxmd.com/read/27980752/novel-compound-heterozygous-mutation-in-sacs-gene-leads-to-a-milder-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay-arsacs-in-a-finnish-family
#11
Johanna Palmio, Mikko Kärppä, Peter Baumann, Sini Penttilä, Jukka Moilanen, Bjarne Udd
Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare disorder outside Quebec causing childhood-onset cerebellar ataxia, peripheral neuropathy, and pyramidal tract signs. A Finnish family with milder form of ARSACS was found to harbor three mutations, p.E1100K, p.N1489S, and p.M1359T, in SACS gene. The mutations segregated with the disease.
December 2016: Clinical Case Reports
https://www.readbyqxmd.com/read/27871429/novel-sacs-mutations-associated-with-intellectual-disability-epilepsy-and-widespread-supratentorial-abnormalities
#12
Zafar Ali, Joakim Klar, Mohammad Jameel, Kamal Khan, Ambrin Fatima, Raili Raininko, Shahid Baig, Niklas Dahl
We describe eight subjects from two consanguineous families segregating with autosomal recessive childhood onset spastic ataxia, peripheral neuropathy and intellectual disability. The degree of intellectual disability varied from mild to severe and all four affected individuals in one family developed aggressive behavior and epilepsy. Using exome sequencing, we identified two novel truncating mutations (c.2656C>T (p.Gln886*)) and (c.4756_4760delAATCA (p.Asn1586Tyrfs*3)) in the SACS gene responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)...
December 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27772739/retinal-nerve-fiber-layer-thickening-in-arsacs-carriers
#13
Michel van Lint, Kristien Hoornaert, Marcel P M Ten Tusscher
PURPOSE: Two Caucasian Belgian families were diagnosed with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The ophthalmological findings in both ARSACS disease and carriers are described. METHODS: In addition to a complete ophthalmological assessment, in both patients and carriers, spectral-domain Optical Coherence Tomography scans of the peri-papillary retinal nerve fiber layer were performed. RESULTS: Molecular analysis revealed a missense mutation which has not been reported before...
November 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27622548/energy-deregulation-precedes-alteration-in-heart-energy-balance-in-young-spontaneously-hypertensive-rats-a-non-invasive-in-vivo31p-mr-spectroscopy-follow-up-study
#14
Veronique Deschodt-Arsac, Laurent Arsac, Julie Magat, Jerome Naulin, Bruno Quesson, Pierre Dos Santos
INTRODUCTION: Gradual alterations in cardiac energy balance, as assessed by the myocardial PCr/ATP-ratio, are frequently associated with the development of cardiac disease. Despite great interest for the follow-up of myocardial PCr and ATP content, cardiac MR-spectroscopy in rat models in vivo is challenged by sensitivity issues and cross-contamination from other organs. METHODS: Here we combined MR-Imaging and MR-Spectroscopy (Bruker BioSpec 9.4T) to follow-up for the first time in vivo the cardiac energy balance in the SHR, a genetic rat model of cardiac hypertrophy known to develop early disturbances in cytosolic calcium dynamics...
2016: PloS One
https://www.readbyqxmd.com/read/27567285/identification-of-mycobacterium-spp-and-nocardia-spp-from-solid-and-liquid-cultures-by-matrix-assisted-laser-desorption-ionization-time-of-flight-mass-spectrometry-maldi-tof-ms
#15
Victoria Girard, Sandrine Mailler, Martin Welker, Maud Arsac, Béatrice Cellière, Pierre-Jean Cotte-Pattat, Sonia Chatellier, Géraldine Durand, Anne-Marie Béni, Jacques Schrenzel, Elizabeth Miller, Rahima Dussoulier, W Michael Dunne, Susan Butler-Wu, Michael A Saubolle, Den Sussland, Melissa Bell, Alex van Belkum, Parampal Deol
Identification of microorganisms by MALDI-TOF MS has been widely accepted in clinical microbiology. However, for Mycobacterium spp. and Nocardia spp. such identification has not yet reached the optimal level of routine testing. Here we describe the development of an identification tool for 49 and 15 species of Mycobacterium spp. and Nocardia spp., respectively. During database construction, a number of ambiguous reference identifications were revealed and corrected via molecular analyses. Eventually, more than 2000 individual mass spectra acquired from 494 strains were included in a reference database and subjected to bio-statistical analyses...
November 2016: Diagnostic Microbiology and Infectious Disease
https://www.readbyqxmd.com/read/27476418/movement-disorders-in-mitochondrial-diseases
#16
REVIEW
C Tranchant, M Anheim
Mitochondrial diseases (MIDs) are a large group of heterogeneous disorders due to mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) genes, the latter encoding proteins involved in mitochondrial function. A multisystem clinical picture that involves several organs, including both the peripheral and central nervous systems, is a common presentation of MID. Movement disorders, even isolated ones, are not rare. Cerebellar ataxia is common in myoclonic epilepsy with ragged red fibers (MERFF) due to mutations in the mitochondrial transfer RNA (tRNA) lysine gene, in Kearns-Sayre syndrome due to mtDNA deletions, in sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) due to nuclear POLG1 gene mutations, and also in ARCA2, Friedreich's ataxia, SPG7, SCA28 and autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) due to mutations in nuclear genes involved in mitochondrial morphology or function...
August 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27433545/progressive-myoclonus-epilepsy-associated-with-sacs-gene-mutations
#17
Fábio A Nascimento, Laura Canafoglia, Danah Aljaafari, Mikko Muona, Anna-Elina Lehesjoki, Samuel F Berkovic, Silvana Franceschetti, Danielle M Andrade
Pathogenic variants in the SACS gene (OMIM #604490) cause autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ARSACS is a neurodegenerative early-onset progressive disorder, originally described in French Canadians, but later observed elsewhere.(1) Whole-exome sequencing of a large group of patients with unclassified progressive myoclonus epilepsies (PMEs) identified 2 patients bearing SACS gene mutations.(2) We detail the PME clinical features associated with SACS mutations and suggest the inclusion of the SACS gene in diagnostic screening of PMEs...
August 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27133561/syndrome-disintegration-exome-sequencing-reveals-that-fitzsimmons-syndrome-is-a-co-occurrence-of-multiple-events
#18
Christine M Armour, Amanda Smith, Taila Hartley, Jodi Warman Chardon, Sarah Sawyer, Jeremy Schwartzentruber, Raoul Hennekam, Jacek Majewski, Dennis E Bulman, Mohnish Suri, Kym M Boycott
In 1987 Fitzsimmons and Guilbert described identical male twins with progressive spastic paraplegia, brachydactyly with cone shaped epiphyses, short stature, dysarthria, and "low-normal" intelligence. In subsequent years, four other patients, including one set of female identical twins, a single female child, and a single male individual were described with the same features, and the eponym Fitzsimmons syndrome was adopted (OMIM #270710). We performed exome analysis of the patient described in 2009, and one of the original twins from 1987, the only patients available from the literature...
July 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26944128/a-novel-hemizygous-sacs-mutation-identified-by-whole-exome-sequencing-and-snp-array-analysis-in-a-chinese-arsacs-patient
#19
L Liu, X B Li, X H Zi, L Shen, Zh M Hu, Sh X Huang, D L Yu, H B Li, K Xia, B S Tang, R X Zhang
The array of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) has expanded worldwide after the first description in the Charlevoix-Saguenay region of Québec. Here, we report a Chinese ARSACS patient presenting progressive peripheral neuropathy (CMTNS2=15) with horizontal gaze nystagmus and mild spastic gait. Genetic studies including whole exome sequencing (WES), Sanger sequencing and single nucleotide polymorphism (SNP) array analysis revealed a novel hemizygous nonsense mutation (c.11803C>T, p...
March 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/26917082/foveal-hypoplasia-in-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay
#20
Christopher T Shah, Tyson S Ward, Julie A Matsumoto, Yevgeniy Shildkrot
A 14-year-old boy presented with a presumed diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The neurological examination, nerve conduction study, and brain imaging results were all consistent with the diagnosis. The ophthalmologic examination was notable for a prominent myelinated nerve fiber layer extending from the disk along the major temporal arcades in both eyes. Loss of foveal depression was noted clinically and on spectral domain optical coherence tomography. This case highlights a novel finding that may aid in the diagnosis of ARSACS...
February 2016: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
keyword
keyword
33442
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"