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13 results on '"Baxter, Peter S"'

3. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

Author

Foley, A. Reghan, Menezes, Manoj P., Pandraud, Amelie, Gonzalez, Michael A., Al-Odaib, Ahmad, Abrams, Alexander J., Sugano, Kumiko, Yonezawa, Atsushi, Manzur, Adnan Y., Burns, Joshua, Hughes, Imelda, McCullagh, B. Gary, Jungbluth, Heinz, Lim, Ming J., Lin, Jean-Pierre, Megarbane, Andre, Urtizberea, J. Andoni, Shah, Ayaz H., Antony, Jayne, Webster, Richard, Broomfield, Alexander, Ng, Joanne, Mathew, Ann A., O’Byrne, James J., Forman, Eva, Scoto, Mariacristina, Prasad, Manish, O’Brien, Katherine, Olpin, Simon, Oppenheim, Marcus, Hargreaves, Iain, Land, John M., Wang, Min X., Carpenter, Kevin, Horvath, Rita, Straub, Volker, Lek, Monkol, Gold, Wendy, Farrell, Michael O., Brandner, Sebastian, Phadke, Rahul, Matsubara, Kazuo, McGarvey, Michael L., Scherer, Steven S., Baxter, Peter S., King, Mary D., Clayton, Peter, Rahman, Shamima, Reilly, Mary M., Ouvrier, Robert A., Christodoulou, John, Züchner, Stephan, Muntoni, Francesco, and Houlden, Henry

Published
2014
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5. Post‐Treatment Movement Disorder in a Child with Late‐onset Cobalamin Deficiency.

Author

Fadilah, Ala, Baxter, Peter S., Sarrigiannis, Ptolemaios G., Sengupta, Soma, Sharrard, Mark J., and Mordekar, Santosh R.

Subjects
*VITAMIN B12, *MYOCLONUS, *MOVEMENT disorders, *VITAMIN B deficiency, *BLINKING (Physiology)
Abstract

Discussion This is the first report of a post-treatment hyperkinetic movement disorder, in late onset inherited cobalamin deficiencies. Keywords: cobalamin C; movement disorder; late onset cobalamin disorders; photosensitivity; post-treatment movement disorder EN cobalamin C movement disorder late onset cobalamin disorders photosensitivity post-treatment movement disorder 245 248 4 02/07/22 20220201 NES 220201 New onset movement disorders have been reported following treatment for B12 deficiency but not in late onset cobalamin disorders. Movement disorder, late onset cobalamin disorders, photosensitivity, post-treatment movement disorder, cobalamin C. [Extracted from the article]

Published
2022
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7. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

Author

Foley, A. Reghan, primary, Menezes, Manoj P., additional, Pandraud, Amelie, additional, Gonzalez, Michael A., additional, Al-Odaib, Ahmad, additional, Abrams, Alexander J., additional, Sugano, Kumiko, additional, Yonezawa, Atsushi, additional, Manzur, Adnan Y., additional, Burns, Joshua, additional, Hughes, Imelda, additional, McCullagh, B. Gary, additional, Jungbluth, Heinz, additional, Lim, Ming J., additional, Lin, Jean-Pierre, additional, Megarbane, Andre, additional, Urtizberea, J. Andoni, additional, Shah, Ayaz H., additional, Antony, Jayne, additional, Webster, Richard, additional, Broomfield, Alexander, additional, Ng, Joanne, additional, Mathew, Ann A., additional, O’Byrne, James J., additional, Forman, Eva, additional, Scoto, Mariacristina, additional, Prasad, Manish, additional, O’Brien, Katherine, additional, Olpin, Simon, additional, Oppenheim, Marcus, additional, Hargreaves, Iain, additional, Land, John M., additional, Wang, Min X., additional, Carpenter, Kevin, additional, Horvath, Rita, additional, Straub, Volker, additional, Lek, Monkol, additional, Gold, Wendy, additional, Farrell, Michael O., additional, Brandner, Sebastian, additional, Phadke, Rahul, additional, Matsubara, Kazuo, additional, McGarvey, Michael L., additional, Scherer, Steven S., additional, Baxter, Peter S., additional, King, Mary D., additional, Clayton, Peter, additional, Rahman, Shamima, additional, Reilly, Mary M., additional, Ouvrier, Robert A., additional, Christodoulou, John, additional, Züchner, Stephan, additional, Muntoni, Francesco, additional, and Houlden, Henry, additional

Published
2013
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13. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

Author

Foley, A Reghan, Menezes, Manoj P, Pandraud, Amelie, Gonzalez, Michael A, Al-Odaib, Ahmad, Abrams, Alexander J, Sugano, Kumiko, Yonezawa, Atsushi, Manzur, Adnan Y, Burns, Joshua, Hughes, Imelda, McCullagh, B Gary, Jungbluth, Heinz, Lim, Ming J, Lin, Jean-Pierre, Megarbane, Andre, Urtizberea, J Andoni, Shah, Ayaz H, Antony, Jayne, Webster, Richard, Broomfield, Alexander, Ng, Joanne, Mathew, Ann A, O'Byrne, James J, Forman, Eva, Scoto, Mariacristina, Prasad, Manish, O'Brien, Katherine, Olpin, Simon, Oppenheim, Marcus, Hargreaves, Iain, Land, John M, Wang, Min X, Carpenter, Kevin, Horvath, Rita, Straub, Volker, Lek, Monkol, Gold, Wendy, Farrell, Michael O, Brandner, Sebastian, Phadke, Rahul, Matsubara, Kazuo, McGarvey, Michael L, Scherer, Steven S, Baxter, Peter S, King, Mary D, Clayton, Peter, Rahman, Shamima, Reilly, Mary M, Ouvrier, Robert A, Christodoulou, John, Züchner, Stephan, Muntoni, Francesco, and Houlden, Henry

Subjects
Male, Adolescent, Genotype, riboflavin therapy, RFVT2, Hearing Loss, Sensorineural, Riboflavin, Bulbar Palsy, Progressive, childhood neuronopathy, Receptors, G-Protein-Coupled, Young Adult, Sural Nerve, Carnitine, Image Processing, Computer-Assisted, Humans, Exome, Motor Neuron Disease, Child, Neurologic Examination, food and beverages, Brain, Sequence Analysis, DNA, Vitamins, Microarray Analysis, Magnetic Resonance Imaging, 3. Good health, Pedigree, Child, Preschool, Mutation, RNA, Brown-Vialetto-Van Laere syndrome, Female, SLC52A2
Abstract

Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in 1894, and subsequently called Brown-Vialetto-Van Laere syndrome, is characterized by progressive pontobulbar palsy, sensorineural hearing loss and respiratory insufficiency. There has been no treatment for this progressive neurodegenerative disorder, which leads to respiratory failure and usually death during childhood. We recently reported the identification of SLC52A2, encoding riboflavin transporter RFVT2, as a new causative gene for Brown-Vialetto-Van Laere syndrome. We used both exome and Sanger sequencing to identify SLC52A2 mutations in patients presenting with cranial neuropathies and sensorimotor neuropathy with or without respiratory insufficiency. We undertook clinical, neurophysiological and biochemical characterization of patients with mutations in SLC52A2, functionally analysed the most prevalent mutations and initiated a regimen of high-dose oral riboflavin. We identified 18 patients from 13 families with compound heterozygous or homozygous mutations in SLC52A2. Affected individuals share a core phenotype of rapidly progressive axonal sensorimotor neuropathy (manifesting with sensory ataxia, severe weakness of the upper limbs and axial muscles with distinctly preserved strength of the lower limbs), hearing loss, optic atrophy and respiratory insufficiency. We demonstrate that SLC52A2 mutations cause reduced riboflavin uptake and reduced riboflavin transporter protein expression, and we report the response to high-dose oral riboflavin therapy in patients with SLC52A2 mutations, including significant and sustained clinical and biochemical improvements in two patients and preliminary clinical response data in 13 patients with associated biochemical improvements in 10 patients. The clinical and biochemical responses of this SLC52A2-specific cohort suggest that riboflavin supplementation can ameliorate the progression of this neurodegenerative condition, particularly when initiated soon after the onset of symptoms.

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