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Peripheral vein injection of AAV8-MTM1 leads to long-term survival and correction of severe muscle pathology in a canine model of X-linked myotubular myopathy: Results from a dose escalation study
Mutations in the myotubularin gene (MTM1) result in X-linked myotubular myopathy (XLMTM), a fatal pediatric disease of the skeletal muscle characterized by small centrally nucleated myofibers containing abnormal mitochondrial accumulations. Patients typically present with severe hypotonia and respiratory failure. Previous studies in Mtm1 mutant mice demonstrated efficacy of gene therapy to treat the disease. We also previously reported that administration of an adeno-associated virus serotype 8 (AAV8) vector expressing myotubularin under the muscle-specific desmin promoter via high pressure regional hind limb perfusion pro...
Source: Neuromuscular Disorders - September 11, 2015 Category: Neurology Authors: D. Mack, K. Poulard, M. Goddard, J. Snyder, R. Grange, J. Doering, J. Strande, V. Latournerie, P. Veron, L. Yang, L. Buscara, C. Le Bec, S. Martin, M. O'Callaghan, F. Mingozzi, A. Beggs, M. Lawlor, F. Mavilio, M. Childers, A. Buj-Bello Source Type: research

G.p.41
Mutations in the myotubularin gene (MTM1) result in X-linked myotubular myopathy (XLMTM), a fatal pediatric disease of skeletal muscle characterized by small centrally nucleated myofibers containing abnormal mitochondrial accumulations. Patients typically present with severe hypotonia and respiratory failure. Previous local studies in Mtm1-mutant mice demonstrated potential efficacy of gene therapy to treat the disease. We recently reported that administration of adeno-associated virus serotype 8 (AAV8) vector expressing myotubularin under the muscle-specific desmin promoter, delivered systemically in myotubularin deficien...
Source: Neuromuscular Disorders - October 1, 2014 Category: Neurology Authors: D.L. Mack, M. Goddard, J.M. Snyder, J. Doering, M.W. Lawlor, P. Moullier, M. O’Callaghan, A.H. Beggs, F. Mavilio, K. Poulard, V. Latournerie, A. Buj-Bello, Source Type: research

Intravoxel incoherent motion magnetic resonance imaging findings in the acute phase of MELAS: a case report
ConclusionThese findings imply a breakdown of autoregulation with hyperperfusion and vasogenic edema during the acute phase of MELAS, as described in previous reports. IVIM imaging is a valuable, noninvasive tool that simultaneously quantifies perfusion and diffusion parameters. We report a patient in the acute phase of MELAS who appears to show characteristic radiological findings using IVIM imaging. This type of imaging is a valuable technique that allows noninvasive and simultaneous measurement of both regional perfusion and diffusion.
Source: Brain and Behavior - September 11, 2014 Category: Neurology Authors: Ryuji Uehara, Koji Yamashita, Akio Hiwatashi, Osamu Togao, Kazufumi Kikuchi, Jun Yokoyama, Dai Matsuse, Takashi Yoshiura, Hiroshi Honda Tags: Methods Source Type: research

G.P.41: Canine X-linked myotubular myopathy: A dose-finding study of systemic AAV8-MTM1 effects on muscle strength, gait, respiration, neuromuscular function and survival
Mutations in the myotubularin gene (MTM1) result in X-linked myotubular myopathy (XLMTM), a fatal pediatric disease of skeletal muscle characterized by small centrally nucleated myofibers containing abnormal mitochondrial accumulations. Patients typically present with severe hypotonia and respiratory failure. Previous local studies in Mtm1-mutant mice demonstrated potential efficacy of gene therapy to treat the disease. We recently reported that administration of adeno-associated virus serotype 8 (AAV8) vector expressing myotubularin under the muscle-specific desmin promoter, delivered systemically in myotubularin deficien...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: D.L. Mack, M. Goddard, J.M. Snyder, J. Doering, M.W. Lawlor, P. Moullier, M. O’Callaghan, A.H. Beggs, F. Mavilio, K. Poulard, V. Latournerie, A. Buj-Bello, M. Childers Source Type: research

Detection of Presymptomatically Latent Lesions Developing into Stroke-Like Episodes by Arterial Spin-Labeling Perfusion MRI in MELAS Patients (P03.162)
CONCLUSIONS: These findings suggest that regional ASL hyperperfusion in the presymptomatic phase precedes the appearance of upcoming stroke-like lesions, and that presymptomatic SEs had already occurred several months before the onset of clinical symptoms. ASL imaging has great potential for detecting presymptomatic stroke-like lesions and predicting the emergence of SEs.Supported by: In part by Grants-in-Aid for the Scientific Research on Innovative Areas from the Ministry of Education, Culture, Sports, Science and Technology of Japan and Young Scientists (B) from the Japan Society for the Promotion of Science, and the Re...
Source: Neurology - February 14, 2013 Category: Neurology Authors: Ikawa, M., Kimura, H., Muramatsu, T., Matsunaga, A., Tsujikawa, T., Yamamoto, T., Kosaka, N., Kinoshita, K., Yamamura, O., Hamano, T., Nakamoto, Y., Yoneda, M. Tags: P03 Cerebrovascular Disease III Source Type: research