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Total 63 results found since Jan 2013.
Laryngeal carcinoma presenting as polymyositis: A paraneoplastic syndrome
We report a case of elderly male, who presented with proximal muscle weakness and found to be associated with laryngeal carcinoma. Diagnosis of polymyositis (PM) was confirmed based on clinical features, laboratory test, and muscle biopsy. Exclusion of other commonly associated malignancies was done. This patient improved gradually after 6 months of immunosuppressive therapy and management of underlying cancer.
Source: Annals of Indian Academy of Neurology - February 2, 2016 Category: Neurology Authors: Ritesh SahuBhanu Pratap RathaurTejendra Sukdeo ChaudhariRakesh ShuklaKiran Preet Malhotra Source Type: research
ATGL-ko mice are resistant to diet-induced obesity Biochemistry
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...
Source: Proceedings of the National Academy of Sciences - November 10, 2015 Category: Science Authors: Schreiber, R., Hofer, P., Taschler, U., Voshol, P. J., Rechberger, G. N., Kotzbeck, P., Jaeger, D., Preiss-Landl, K., Lord, C. C., Brown, J. M., Haemmerle, G., Zimmermann, R., Vidal-Puig, A., Zechner, R. Tags: Biological Sciences Source Type: research
Diseases caused by mutations in ORAI1 and STIM1
Ca2+ release‐activated Ca2+ (CRAC) channels mediate a specific form of Ca2+ influx called store‐operated Ca2+ entry (SOCE) that contributes to the function of many cell types. CRAC channels are composed of ORAI1 proteins located in the plasma membrane, which form its ion‐conducting pore. ORAI1 channels are activated by stromal interaction molecule (STIM) 1 and STIM2 located in the endoplasmic reticulum. Loss‐ and gain‐of‐function gene mutations in ORAI1 and STIM1 in human patients cause distinct disease syndromes. CRAC channelopathy is caused by loss‐of‐function mutations in ORAI1 and STIM1 that abolish CRA...
Source: Annals of the New York Academy of Sciences - October 15, 2015 Category: Science Authors: Rodrigo S. Lacruz, Stefan Feske Tags: Original Article Source Type: research
Structural basis of Lmod2 function in muscle cells Biochemistry
Leiomodin (Lmod) is a class of potent tandem-G-actin–binding nucleators in muscle cells. Lmod mutations, deletion, or instability are linked to lethal nemaline myopathy. However, the lack of high-resolution structures of Lmod nucleators in action severely hampered our understanding of their essential cellular functions. Here we report the crystal structure of...
Source: Proceedings of the National Academy of Sciences - October 13, 2015 Category: Science Authors: Chen, X., Ni, F., Kondrashkina, E., Ma, J., Wang, Q. Tags: Biological Sciences Source Type: research
Polyneuritis cranialis with generalized hyperreflexia as a presenting manifestation of thyrotoxicosis
Gaurav M Kasundra, Amita Narendra Bhargava, Bharat Bhushan, Khichar Shubhakaran, Isha SoodAnnals of Indian Academy of Neurology 2015 18(2):240-242A 22-year-old male student with no past medical illness, presented with acute onset dysarthria, binocular diplopia, and dysphagia over 10 hours. On examination, he had tachycardia, hypertension, generalized hyper-reflexia, and bilateral pupil sparing oculomotor, troclear, abducens, trigeminal, facial, glossopharyngeal, and vagus nerve palsy. Rest examination was unremarkable. Facial nerve conduction study (NCS) showed decreased amplitude bilaterally and neurogenic pattern on elec...
Source: Annals of Indian Academy of Neurology - May 8, 2015 Category: Neurology Authors: Gaurav M KasundraAmita Narendra BhargavaBharat BhushanKhichar ShubhakaranIsha Sood Source Type: research
Cofactor regulation of p97/VCP disease mutants Biochemistry
Dominant mutations in p97/VCP (valosin-containing protein) cause a rare multisystem degenerative disease with varied phenotypes that include inclusion body myopathy, Paget’s disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis. p97 disease mutants have altered N-domain conformations, elevated ATPase activity, and altered cofactor association. We have now discovered a previously...
Source: Proceedings of the National Academy of Sciences - April 7, 2015 Category: Science Authors: Zhang, X., Gui, L., , Bulfer, S. L., Sanghez, V., Wong, D. E., Lee, Y., Lehmann, L., Lee, J. S., Shih, P.-Y., Lin, H. J., Iacovino, M., Weihl, C. C., Arkin, M. R., Wang, Y., Chou, T.-F. Tags: PNAS Plus Source Type: research
A case of congenital myopathy masquerading as paroxysmal dyskinesia
Harsh Patel, Biswaroop Chakrabarty, Sheffali Gulati, Mehar C Sharma, Lokesh SainiAnnals of Indian Academy of Neurology 2014 17(4):441-443Gastroesophageal reflux (GER) disease is a significant comorbidity of neuromuscular disorders. It may present as paroxysmal dyskinesia, an entity known as Sandifer syndrome. A 6-week-old neonate presented with very frequent paroxysms of generalized stiffening and opisthotonic posture since day 22 of life. These were initially diagnosed as seizures and he was started on multiple antiepileptics which did not show any response. After a normal video electroencephalogram (VEEG) was documented,...
Source: Annals of Indian Academy of Neurology - November 5, 2014 Category: Neurology Authors: Harsh PatelBiswaroop ChakrabartySheffali GulatiMehar C SharmaLokesh Saini Source Type: research
Myopathies of endocrine disorders: A prospective clinical and biochemical study
Conclusion: We found varied clinical presentations of endocrine myopathies. All the patients with neuromuscular complaints should be investigated for endocrine causes because significant number of them recovers fully with specific treatment.
Source: Annals of Indian Academy of Neurology - August 12, 2014 Category: Neurology Authors: Vikas SharmaPapori BorahLakshya J BasumataryMarami DasMunindra GoswamiAshok K Kayal Source Type: research
Samd4 is a metabolic regulator through mTORC1 Genetics
Sterile alpha motif domain containing protein 4 (Samd4) is an RNA binding protein that mediates translational repression. We identified a Samd4 missense mutation, designated supermodel, that caused leanness and kyphosis associated with myopathy and adipocyte defects in C57BL/6J mice. The supermodel mutation protected homozygous mice from high fat diet-induced obesity,...
Source: Proceedings of the National Academy of Sciences - May 20, 2014 Category: Science Authors: Chen, Z., Holland, W., Shelton, J. M., Ali, A., Zhan, X., Won, S., Tomisato, W., Liu, C., Li, X., Moresco, E. M. Y., Beutler, B. Tags: Biological Sciences Source Type: research
An interesting case of reversible metabolic myopathy: Tumor induced osteomalacia
Hanmayyagari Babul Reddy, Guntaka Mounika, V. Sri Nagesh, I. Satish RaoAnnals of Indian Academy of Neurology 2014 17(2):237-238
Source: Annals of Indian Academy of Neurology - May 17, 2014 Category: Neurology Authors: Hanmayyagari Babul ReddyGuntaka MounikaV. Sri NageshI. Satish Rao Source Type: research
CRAC channel mutations in Stormorken syndrome Genetics
Signaling through the store-operated Ca2+ release-activated Ca2+ (CRAC) channel regulates critical cellular functions, including gene expression, cell growth and differentiation, and Ca2+ homeostasis. Loss-of-function mutations in the CRAC channel pore-forming protein ORAI1 or the Ca2+ sensing protein stromal interaction molecule 1 (STIM1) result in severe immune dysfunction and nonprogressive myopathy....
Source: Proceedings of the National Academy of Sciences - March 18, 2014 Category: Science Authors: Nesin, V., Wiley, G., Kousi, M., Ong, E.-C., Lehmann, T., Nicholl, D. J., Suri, M., Shahrizaila, N., Katsanis, N., Gaffney, P. M., Wierenga, K. J., Tsiokas, L. Tags: Biological Sciences Source Type: research
T-tubule dysferlin stabilizes Ca2+ signaling Physiology
Dysferlinopathies, most commonly limb girdle muscular dystrophy 2B and Miyoshi myopathy, are degenerative myopathies caused by mutations in the DYSF gene encoding the protein dysferlin. Studies of dysferlin have focused on its role in the repair of the sarcolemma of skeletal muscle, but dysferlin’s association with calcium (Ca2+) signaling proteins...
Source: Proceedings of the National Academy of Sciences - December 17, 2013 Category: Science Authors: Kerr, J. P., Ziman, A. P., Mueller, A. L., Muriel, J. M., Kleinhans-Welte, E., Gumerson, J. D., Vogel, S. S., Ward, C. W., Roche, J. A., Bloch, R. J. Tags: Biological Sciences Source Type: research
Hyperkeratosis as a clue to diagnosis in a patient with myopathy
Ayşe Nurcan Cebeci, Barış EkiciAnnals of Indian Academy of Neurology 2013 16(4):668-669
Source: Annals of Indian Academy of Neurology - October 25, 2013 Category: Neurology Authors: Ayşe Nurcan CebeciBarış Ekici Source Type: research
Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis
Aralikatte Onkarappa Saroja, Karkal Ravishankar Naik, Atcharayam Nalini, Narayanappa GayathriAnnals of Indian Academy of Neurology 2013 16(4):712-715Bethlem myopathy and Ullrich congenital muscular dystrophy form a spectrum of collagenopathies caused by genetic mutations encoding for any of the three subunits of collagen VI. Bethlem phenotype is relatively benign and is characterized by proximal dominant myopathy, keloids, contractures, distal hyperextensibility, and follicular hyperkeratosis. Three patients from a single family were diagnosed to have Bethlem myopathy based on European Neuromuscular Centre Bethlem Consorti...
Source: Annals of Indian Academy of Neurology - October 25, 2013 Category: Neurology Authors: Aralikatte Onkarappa SarojaKarkal Ravishankar NaikAtcharayam NaliniNarayanappa Gayathri Source Type: research
Myopathy with normal creatinine phosphokinase in a young man
Inuka Kishara Gooneratne, Manjula Chandragomi Caldera, Ranjanie Gamage, Shirani Samarathunga, Janakie FernandoAnnals of Indian Academy of Neurology 2013 16(3):407-408
Source: Annals of Indian Academy of Neurology - August 26, 2013 Category: Neurology Authors: Inuka Kishara GooneratneManjula Chandragomi CalderaRanjanie GamageShirani SamarathungaJanakie Fernando Source Type: research
