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Lipid storage myopathy

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https://www.readbyqxmd.com/read/28624465/muscle-pathology-in-vici-syndrome-a-case-study-with-a-novel-mutation-in-epg5-and-a-summary-of-the-literature
#1
Carola Hedberg-Oldfors, Niklas Darin, Anders Oldfors
Vici syndrome is a disorder characterized by myopathy, cardiomyopathy, agenesis of the corpus callosum, immunodeficiency, cataracts, hypopigmentation, microcephaly, gross developmental delay and failure to thrive. It is caused by mutations in EPG5, which encodes a protein involved in the autophagy pathway. Although myopathy is part of the syndrome, few publications have described the muscle pathology. We present a detailed morphological analysis in a boy with Vici syndrome due to a novel homozygous one-base deletion in EPG5 (c...
May 8, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28503705/muscle-mri-in-neutral-lipid-storage-disease-nlsd
#2
Matteo Garibaldi, Giorgio Tasca, Jordi Diaz-Manera, Pierfancesco Ottaviani, Francesco Laschena, Donatella Pantoli, Simonetta Gerevini, Chiara Fiorillo, Lorenzo Maggi, Elisabetta Tasca, Adele D'Amico, Olimpia Musumeci, Antonio Toscano, Claudio Bruno, Roberto Massa, Corrado Angelini, Enrico Bertini, Giovanni Antonini, Elena Maria Pennisi
Neutral lipid storage disease (NLSD) is a rare inherited disorder of lipid metabolism resulting in lipid droplets accumulation in different tissues. Skeletal muscle could be affected in both two different form of disease: NLSD with myopathy (NLSD-M) and NLSD with ichthyosis (NLSD-I). We present the muscle imaging data of 12 patients from the Italian Network for NLSD: ten patients presenting NLSD-M and two patients with NLSD-I. In NLSD-M gluteus minimus, semimembranosus, soleus and gastrocnemius medialis in the lower limbs and infraspinatus in the upper limbs were the most affected muscles...
May 13, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28499397/neutral-lipid-storage-diseases-clinical-genetic-features-and-natural-history-in-a-large-cohort-of-italian-patients
#3
Elena Maria Pennisi, Marcello Arca, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Adele D'amico, Matteo Garibaldi, Francesca Gragnani, Lorenzo Maggi, Roberto Massa, Sara Missaglia, Lucia Morandi, Olimpia Musumeci, Elena Pegoraro, Emanuele Rastelli, Filippo Maria Santorelli, Elisabetta Tasca, Daniela Tavian, Antonio Toscano, Corrado Angelini
BACKGROUND: A small number of patients affected by Neutral Lipid Storage Diseases (NLSDs: NLSD type M with Myopathy and NLSD type I with Ichthyosis) have been described in various ethnic groups worldwide. However, relatively little is known about the progression and phenotypic variability of the disease in large specific populations. The aim of our study was to assess the natural history, disability and genotype-phenotype correlations in Italian patients with NLSDs. Twenty-one patients who satisfied the criteria for NLSDs were enrolled in a retrospective cross-sectional study to evaluate the genetic aspects, clinical signs at onset, disability progression and comorbidities associated with this group of diseases...
May 12, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28456887/heterogeneous-phenotypes-in-lipid-storage-myopathy-due-to-etfdh-gene-mutations
#4
Corrado Angelini, Daniela Tavian, Sara Missaglia
We present six novel patients affected by lipid storage myopathy (LSM) presenting mutations in the ETFDH gene. Although the diagnosis of multiple acyl-coenzyme-A dehydrogenase deficiency (MADD) in adult life is difficult, it is rewarding because of the possibility of treating patients with carnitine or riboflavin, leading to a full recovery. In our patients, a combination of precipitating risk factors including previous anorexia, alcoholism, poor nutrition, and pregnancy contributed to a metabolic critical condition that precipitated the catabolic state...
April 30, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28391974/generation-of-induced-pluripotent-stem-cells-as-disease-modelling-of-nlsdm
#5
D Tavian, S Missaglia, M Castagnetta, D Degiorgio, E M Pennisi, R A Coleman, P Dell'Era, C Mora, C Angelini, D A Coviello
Neutral Lipid Storage Disease with Myopathy (NLSDM) is a rare defect of triacylglycerol metabolism, characterized by the abnormal storage of neutral lipid in organelles known as lipid droplets (LDs). The main clinical features are progressive myopathy and cardiomyopathy. The onset of NLSDM is caused by autosomal recessive mutations in the PNPLA2 gene, which encodes adipose triglyceride lipase (ATGL). Despite its name, this enzyme is present in a wide variety of cell types and catalyzes the first step in triacylglycerol lipolysis and the release of fatty acids...
May 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28258942/late-onset-of-neutral-lipid-storage-disease-due-to-novel-pnpla2-mutations-causing-total-loss-of-lipase-activity-in-a-patient-with-myopathy-and-slight-cardiac-involvement
#6
Sara Missaglia, Lorenzo Maggi, Marina Mora, Sara Gibertini, Flavia Blasevich, Piergiuseppe Agostoni, Laura Moro, Denise Cassandrini, Filippo Maria Santorelli, Simonetta Gerevini, Daniela Tavian
Neutral lipid storage disease with myopathy (NLSDM) presents with skeletal muscle myopathy and severe dilated cardiomyopathy in nearly 40% of cases. NLSDM is caused by mutations in the PNPLA2 gene, which encodes the adipose triglyceride lipase (ATGL). Here we report clinical and genetic findings of a patient carrying two novel PNPLA2 mutations (c.696+4A>G and c.553_565delGTCCCCCTTCTCG). She presented at age 39 with right upper limb abduction weakness slowly progressing over the years with asymmetric involvement of proximal upper and lower limb muscles...
May 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27486434/statin-therapy-alters-lipid-storage-in-diabetic-skeletal-muscle
#7
Irena A Rebalka, Matthew J Raleigh, Laelie A Snook, Alexandra N Rebalka, Rebecca E K MacPherson, David C Wright, Jonathan D Schertzer, Thomas J Hawke
While statins significantly reduce cholesterol levels and thereby reduce the risk of cardiovascular disease, the development of myopathy with statin use is a significant clinical side effect. Recent guidelines recommend increasing inclusion criteria for statin treatment in diabetic individuals; however, the impact of statins on skeletal muscle health in those with diabetes (who already suffer from impairments in muscle health) is ill defined. Here, we investigate the effects of fluvastatin treatment on muscle health in wild type (WT) and streptozotocin (STZ)-induced diabetic mice...
2016: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/27428459/analysis-of-lipid-profile-in-lipid-storage-myopathy
#8
M'hammed Aguennouz, Marco Beccaria, Giorgia Purcaro, Marianna Oteri, Giuseppe Micalizzi, Olimpia Musumesci, Annmaria Ciranni, Rosa Maria Di Giorgio, Antonio Toscano, Paola Dugo, Luigi Mondello
Lipid dysmetabolism disease is a condition in which lipids are stored abnormally in organs and tissues throughout the body, causing muscle weakness (myopathy). Usually, the diagnosis of this disease and its characterization goes through dosage of Acyl CoA in plasma accompanied with evidence of droplets of intra-fibrils lipids in the patient muscle biopsy. However, to understand the pathophysiological mechanisms of lipid storage diseases, it is useful to identify the nature of lipids deposited in muscle fiber...
September 1, 2016: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/27270537/skeletal-muscle-magnetic-resonance-imaging-of-the-lower-limbs-in-late-onset-lipid-storage-myopathy-with-electron-transfer-flavoprotein-dehydrogenase-gene-mutations
#9
Xin-Yi Liu, Ming Jin, Zhi-Qiang Wang, Dan-Ni Wang, Jun-Jie He, Min-Ting Lin, Hong-Xia Fu, Ning Wang
BACKGROUND: Lipid storage myopathy (LSM) is a genetically heterogeneous group with variable clinical phenotypes. Late-onset multiple acyl-coenzyme A dehydrogenation deficiency (MADD) is a rather common form of LSM in China. Diagnosis and clinical management of it remain challenging, especially without robust muscle biopsy result and genetic detection. As the noninvasion and convenience, muscle magnetic resonance imaging (MRI) is a helpful assistant, diagnostic tool for neuromuscular disorders...
June 20, 2016: Chinese Medical Journal
https://www.readbyqxmd.com/read/27085974/lipolysis-and-lipophagy-in-lipid-storage-myopathies
#10
Corrado Angelini, Anna Chiara Nascimbeni, Giovanna Cenacchi, Elisabetta Tasca
AIMS: Triglycerides droplets are massively stored in muscle in Lipid Storage Myopathies (LSM). We studied in muscle regulators of lipophagy, the expression of the transcription factor-EB (TFEB) (a master regulator of lysosomal biogenesis), and markers of autophagy which are induced by starvation and exert a transcriptional control on lipid catabolism. METHODS: We investigated the factors that regulate lipophagy in muscle biopsies from 6 patients with different types of LSM: 2 cases of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD), 1 case of primary carnitine deficiency (CD), 2 cases of neutral lipid storage myopathy (NLSD-M), 1 case of carnitine-palmitoyl-transferase-II (CPT) deficiency...
July 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27000805/significant-clinical-heterogeneity-with-similar-etfdh-genotype-in-three-chinese-patients-with-late-onset-multiple-acyl-coa-dehydrogenase-deficiency
#11
Hong-Xia Fu, Xin-Yi Liu, Zhi-Qiang Wang, Ming Jin, Dan-Ni Wang, Jun-Jie He, Min-Ting Lin, Ning Wang
Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) with electron transfer flavoprotein dehydrogenase (ETFDH) gene mutations is the most common lipid storage myopathy (LSM) in China. Its clinical features vary widely and pose a challenge for diagnosis. We presented the significant clinical heterogeneity among three Chinese late-onset MADD patients with similar ETFDH genotype by collecting clinical information, muscle histology, and genetic analysis. Three novel compound heterozygous variants of ETFDH gene were identified: c...
July 2016: Neurological Sciences
https://www.readbyqxmd.com/read/26830983/a-historical-cohort-study-on-the-efficacy-of-glucocorticoids-and-riboflavin-among-patients-with-late-onset-multiple-acyl-coa-dehydrogenase-deficiency
#12
Xin-Yi Liu, Zhi-Qiang Wang, Dan-Ni Wang, Min-Ting Lin, Ning Wang
BACKGROUND: Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is the most common type of lipid storage myopathies in China. Most patients with late-onset MADD are well responsive to riboflavin. Up to now, these patients are often treated with glucocorticoids as the first-line drug because they are misdiagnosed as polymyositis without muscle biopsy or gene analysis. Although glucocorticoids seem to improve the fatty acid metabolism of late-onset MADD, the objective evaluation of their rationalization on this disorder and comparison with riboflavin treatment are unknown...
January 20, 2016: Chinese Medical Journal
https://www.readbyqxmd.com/read/26821934/severe-sensory-neuropathy-in-patients-with-adult-onset-multiple-acyl-coa-dehydrogenase-deficiency
#13
Zhaoxia Wang, Daojun Hong, Wei Zhang, Wurong Li, Xin Shi, Danhua Zhao, Xu Yang, He Lv, Yun Yuan
Multiple Acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid oxidation. Most patients with late-onset MADD are clinically characterized by lipid storage myopathy with dramatic responsiveness to riboflavin treatment. Abnormalities of peripheral neuropathy have rarely been reported in patients with late-onset MADD. We describe six patients who presented with proximal limb weakness and loss of sensation in the distal limbs. Muscle biopsy revealed typical myopathological patterns of lipid storage myopathy and blood acylcarnitine profiles showed a combined elevation of multiple acylcarnitines supporting the diagnosis of MADD...
February 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/26664991/metabolic-encephalopathy-and-lipid-storage-myopathy-associated-with-a-presumptive-mitochondrial-fatty-acid-oxidation-defect-in-a-dog
#14
Vanessa R Biegen, John P McCue, Taryn A Donovan, G Diane Shelton
A 1-year-old spayed female Shih Tzu presented for episodic abnormalities of posture and mentation. Neurological examination was consistent with a bilaterally symmetric multifocal encephalopathy. The dog had a waxing-and-waning hyperlactemia and hypoglycemia. Magnetic resonance imaging revealed bilaterally symmetric cavitated lesions of the caudate nuclei with less severe abnormalities in the cerebellar nuclei. Empirical therapy was unsuccessful, and the patient was euthanized. Post-mortem histopathology revealed bilaterally symmetric necrotic lesions of the caudate and cerebellar nuclei and multi-organ lipid accumulation, including a lipid storage myopathy...
2015: Frontiers in Veterinary Science
https://www.readbyqxmd.com/read/26600210/neutral-lipid-storage-disease-with-myopathy-and-extended-phenotype-with-novel-pnpla2-mutation
#15
REVIEW
Roberto Massa, Simone Pozzessere, Emanuele Rastelli, Laura Serra, Chiara Terracciano, Manuela Gibellini, Marco Bozzali, Marcello Arca
INTRODUCTION: Neutral lipid-storage disease with myopathy is caused by mutations in PNPLA2, which produce skeletal and cardiac myopathy. We report a man with multiorgan neutral lipid storage and unusual multisystem clinical involvement, including cognitive impairment. METHODS: Quantitative brain MRI with voxel-based morphometry and extended neuropsychological assessment were performed. In parallel, the coding sequences and intron/exon boundaries of the PNPLA2 gene were screened by direct sequencing...
April 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/26508640/hypophagia-and-metabolic-adaptations-in-mice-with-defective-atgl-mediated-lipolysis-cause-resistance-to-hfd-induced-obesity
#16
Renate Schreiber, Peter Hofer, Ulrike Taschler, Peter J Voshol, Gerald N Rechberger, Petra Kotzbeck, Doris Jaeger, Karina Preiss-Landl, Caleb C Lord, J Mark Brown, Guenter Haemmerle, Robert Zimmermann, Antonio Vidal-Puig, Rudolf Zechner
Adipose triglyceride lipase (ATGL) initiates intracellular triglyceride (TG) catabolism. In humans, ATGL deficiency causes neutral lipid storage disease with myopathy (NLSDM) characterized by a systemic TG accumulation. Mice with a genetic deletion of ATGL (AKO) also accumulate TG in many tissues. However, neither NLSDM patients nor AKO mice are exceedingly obese. This phenotype is unexpected considering the importance of the enzyme for TG catabolism in white adipose tissue (WAT). In this study, we identified the counteracting mechanisms that prevent excessive obesity in the absence of ATGL...
November 10, 2015: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/26265524/refractory-hyperlactatemia-with-organ-insufficiency-in-lipid-storage-myopathy
#17
Yuanda Xu, Li Zhou, Weibo Liang, Weiqun He, Xiaoqing Liu, Xiuling Liang, Nanshan Zhong, Yimin Li
Lipid storage myopathy is a metabolic disorder characterized by abnormal lipid accumulation in muscle fibers and progressive muscle weakness. Here, we report the case of a 17-year-old woman with progressive muscle weakness, refractory hyperlactatemia, and multiple organ insufficiency. Severe pneumonia was the initial diagnosis. After anti-infective treatment, fluid resuscitation, and mechanical ventilation, the patient's symptoms improved but hyperlactatemia and muscle weakness persisted. She was empirically treated with carnitine...
August 2015: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/26205240/bent-spine-syndrome-as-an-initial-manifestation-of-late-onset-multiple-acyl-coa-dehydrogenase-deficiency-a-case-report-and-literature-review
#18
REVIEW
Yufen Peng, Min Zhu, Junjun Zheng, Yuanzhao Zhu, Xiaobing Li, Caixia Wei, Daojun Hong
BACKGROUND: Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive inherited disease of metabolic dysfunction clinically characterized by fluctuating proximal muscle weakness, excise intolerance, and dramatic riboflavin responsiveness. Dropped head syndrome can occasionally be observed in some severe patients with late-onset MADD; however, bent spine syndrome as an initial symptom had not been reported in patients with late-onset MADD. CASE PRESENTATION: A 46-year-old man lost the ability to hold his trunk upright, and had difficulty in raising his head, but he had no obvious symptoms of limb weakness...
July 24, 2015: BMC Neurology
https://www.readbyqxmd.com/read/25998250/property-of-lysosomal-storage-disease-associated-with-midbrain-pathology-in-the-central-nervous-system-of-lamp-2-deficient-mice
#19
Akiko Furuta, Hisae Kikuchi, Hiromi Fujita, Daisuke Yamada, Yuuki Fujiwara, Tomohiro Kabuta, Ichizo Nishino, Keiji Wada, Yasuo Uchiyama
Lysosome-associated membrane protein-2 (LAMP-2) is the gene responsible for Danon disease, which is characterized by cardiomyopathy, autophagic vacuolar myopathy, and variable mental retardation. To elucidate the function of LAMP-2 in the central nervous system, we investigated the neuropathological changes in Lamp-2-deficient mice. Immunohistochemical observations revealed that Lamp-1 and cathepsin D-positive lysosomal structures increased in the large neurons of the mouse brain. Ubiquitin-immunoreactive aggregates and concanavalin A-positive materials were detected in these neurons...
June 2015: American Journal of Pathology
https://www.readbyqxmd.com/read/25956450/novel-missense-mutations-in-pnpla2-causing-late-onset-and-clinical-heterogeneity-of-neutral-lipid-storage-disease-with-myopathy-in-three-siblings
#20
Sara Missaglia, Elisabetta Tasca, Corrado Angelini, Laura Moro, Daniela Tavian
Neutral lipid storage disease with myopathy (NLSD-M) is a rare autosomal recessive disorder characterised by an abnormal accumulation of triacylglycerol into cytoplasmic lipid droplets (LDs). NLSD-M patients are mainly affected by progressive myopathy, cardiomyopathy and hepatomegaly. Mutations in the PNPLA2 gene cause variable phenotypes of NLSD-M. PNPLA2 codes for adipose triglyceride lipase (ATGL), an enzyme that hydrolyses fatty acids from triacylglycerol. This report outlines the clinical and genetic findings in a NLSD-M Italian family with three affected members...
June 2015: Molecular Genetics and Metabolism
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