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1. Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Author

Opie-Martin, Sarah, Iacoangeli, Alfredo, Topp, Simon D., Abel, Olubunmi, Mayl, Keith, Mehta, Puja R., Shatunov, Aleksey, Fogh, Isabella, Bowles, Harry, Limbachiya, Naomi, Spargo, Thomas P., Al-Khleifat, Ahmad, Williams, Kelly L., Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A., Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela J., Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H., Landers, John E., Glass, Jonathan D., Mora, Jesus S., Robberecht, Wim, Damme, Philip Van, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard, Veldink, Jan H., Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Silani, Vincenzo, Blair, Ian P., Fan, Dong-sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Basak, Nazli A., Siddique, Teepu, Miller, Timothy, Brown, Robert H., Al-Chalabi, Ammar, and Shaw, Christopher E.

Published
2024
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2. The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Author

Opie-Martin, Sarah, Iacoangeli, Alfredo, Topp, Simon D., Abel, Olubunmi, Mayl, Keith, Mehta, Puja R., Shatunov, Aleksey, Fogh, Isabella, Bowles, Harry, Limbachiya, Naomi, Spargo, Thomas P., Al-Khleifat, Ahmad, Williams, Kelly L., Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A., Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela J., Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H., Landers, John E., Glass, Jonathan D., Mora, Jesus S., Robberecht, Wim, Damme, Philip Van, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard, Veldink, Jan H., Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Silani, Vincenzo, Blair, Ian P., Fan, Dong-sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Basak, Nazli A., Siddique, Teepu, Miller, Timothy, Brown, Robert H., Al-Chalabi, Ammar, and Shaw, Christopher E.

Published
2022
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3. Defining SOD1 ALS natural history to guide therapeutic clinical trial design

Author

Bali, Taha, Self, Wade, Liu, Jingxia, Siddique, Teepu, Wang, Leo H, Bird, Thomas D, Ratti, Elena, Atassi, Nazem, Boylan, Kevin B, Glass, Jonathan D, Maragakis, Nicholas J, Caress, James B, McCluskey, Leo F, Appel, Stanley H, Wymer, James P, Gibson, Summer, Zinman, Lorne, Mozaffar, Tahseen, Callaghan, Brian, McVey, April L, Jockel-Balsarotti, Jennifer, Allred, Peggy, Fisher, Elena R, Lopate, Glenn, Pestronk, Alan, Cudkowicz, Merit E, and Miller, Timothy M

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Brain Disorders, Neurosciences, ALS, Rare Diseases, Clinical Research, Neurodegenerative, Clinical Trials and Supportive Activities, Adult, Age of Onset, Amyotrophic Lateral Sclerosis, Clinical Trials as Topic, Disease Progression, Humans, Middle Aged, Mutation, Research Design, Retrospective Studies, Superoxide Dismutase, Vital Capacity, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

ImportanceUnderstanding the natural history of familial amyotrophic lateral sclerosis (ALS) caused by SOD1 mutations (ALSSOD1) will provide key information for optimising clinical trials in this patient population.ObjectiveTo establish an updated natural history of ALSSOD1.Design, setting and participantsRetrospective cohort study from 15 medical centres in North America evaluated records from 175 patients with ALS with genetically confirmed SOD1 mutations, cared for after the year 2000.Main outcomes and measuresAge of onset, survival, ALS Functional Rating Scale (ALS-FRS) scores and respiratory function were analysed. Patients with the A4V (Ala-Val) SOD1 mutation (SOD1A4V), the largest mutation population in North America with an aggressive disease progression, were distinguished from other SOD1 mutation patients (SOD1non-A4V) for analysis.ResultsMean age of disease onset was 49.7±12.3 years (mean±SD) for all SOD1 patients, with no statistical significance between SOD1A4V and SOD1non-A4V (p=0.72, Kruskal-Wallis). Total SOD1 patient median survival was 2.7 years. Mean disease duration for all SOD1 was 4.6±6.0 and 1.4±0.7 years for SOD1A4V. SOD1A4V survival probability (median survival 1.2 years) was significantly decreased compared with SOD1non-A4V (median survival 6.8 years; p

Published
2017

4. Correction to: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration (Nature Communications, (2022), 13, 1, (6901), 10.1038/s41467-022-34620-y)

Author

Neurologen, Projectafdeling ALS, Brain, Neurogenetica, Genetic Risks, Opie-Martin, Sarah, Iacoangeli, Alfredo, Topp, Simon D., Abel, Olubunmi, Mayl, Keith, Mehta, Puja R., Shatunov, Aleksey, Fogh, Isabella, Bowles, Harry, Limbachiya, Naomi, Spargo, Thomas P., Al-Khleifat, Ahmad, Williams, Kelly L., Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A., Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela J., Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H., Landers, John E., Glass, Jonathan D., Mora, Jesus S., Robberecht, Wim, Damme, Philip Van, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard, Veldink, Jan H., Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Silani, Vincenzo, Blair, Ian P., Fan, Dong Sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Basak, Nazli A., Siddique, Teepu, Miller, Timothy, Brown, Robert H., Al-Chalabi, Ammar, Shaw, Christopher E., Neurologen, Projectafdeling ALS, Brain, Neurogenetica, Genetic Risks, Opie-Martin, Sarah, Iacoangeli, Alfredo, Topp, Simon D., Abel, Olubunmi, Mayl, Keith, Mehta, Puja R., Shatunov, Aleksey, Fogh, Isabella, Bowles, Harry, Limbachiya, Naomi, Spargo, Thomas P., Al-Khleifat, Ahmad, Williams, Kelly L., Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A., Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela J., Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H., Landers, John E., Glass, Jonathan D., Mora, Jesus S., Robberecht, Wim, Damme, Philip Van, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard, Veldink, Jan H., Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Silani, Vincenzo, Blair, Ian P., Fan, Dong Sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Basak, Nazli A., Siddique, Teepu, Miller, Timothy, Brown, Robert H., Al-Chalabi, Ammar, and Shaw, Christopher E.

Published
2024

7. The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Author

Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512), Opie-Martin, Sarah; Iacoangeli, Alfredo; Topp, Simon D.; Abel, Olubunmi; Mayl, Keith; Mehta, Puja R.; Shatunov, Aleksey; Fogh, Isabella; Bowles, Harry; Limbachiya, Naomi; Spargo, Thomas P.; Al-Khleifat, Ahmad; Williams, Kelly L.; Jockel-Balsarotti, Jennifer; Bali, Taha; Self, Wade; Henden, Lyndal; Nicholson, Garth A.; Ticozzi, Nicola; McKenna-Yasek, Diane; Tang, Lu; Shaw, Pamela J.; Chio, Adriano; Ludolph, Albert; Weishaupt, Jochen H.; Landers, John E.; Glass, Jonathan D.; Mora, Jesus S.; Robberecht, Wim; Van Damme, Philip; McLaughlin, Russell; Hardiman, Orla; van den Berg, Leonard; Veldink, Jan H.; Corcia, Phillippe; Stevic, Zorica; Siddique, Nailah; Silani, Vincenzo; Blair, Ian P.; Fan, Dong-sheng; Esselin, Florence; de la Cruz, Elisa; Camu, William; Siddique, Teepu; Miller, Timothy; Brown, Robert H.; Al-Chalabi, Ammar; Shaw, Christopher E., Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), School of Medicine, Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512), Opie-Martin, Sarah; Iacoangeli, Alfredo; Topp, Simon D.; Abel, Olubunmi; Mayl, Keith; Mehta, Puja R.; Shatunov, Aleksey; Fogh, Isabella; Bowles, Harry; Limbachiya, Naomi; Spargo, Thomas P.; Al-Khleifat, Ahmad; Williams, Kelly L.; Jockel-Balsarotti, Jennifer; Bali, Taha; Self, Wade; Henden, Lyndal; Nicholson, Garth A.; Ticozzi, Nicola; McKenna-Yasek, Diane; Tang, Lu; Shaw, Pamela J.; Chio, Adriano; Ludolph, Albert; Weishaupt, Jochen H.; Landers, John E.; Glass, Jonathan D.; Mora, Jesus S.; Robberecht, Wim; Van Damme, Philip; McLaughlin, Russell; Hardiman, Orla; van den Berg, Leonard; Veldink, Jan H.; Corcia, Phillippe; Stevic, Zorica; Siddique, Nailah; Silani, Vincenzo; Blair, Ian P.; Fan, Dong-sheng; Esselin, Florence; de la Cruz, Elisa; Camu, William; Siddique, Teepu; Miller, Timothy; Brown, Robert H.; Al-Chalabi, Ammar; Shaw, Christopher E., Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), and School of Medicine

Abstract

Superoxide dismutase (SOD1) gene variants may cause amyotrophic lateral sclerosis, some of which are associated with a distinct phenotype. Most studies assess limited variants or sample sizes. In this international, retrospective observational study, we compare phenotypic and demographic characteristics between people with SOD1-ALS and people with ALS and no recorded SOD1 variant. We investigate which variants are associated with age at symptom onset and time from onset to death or censoring using Cox proportional-hazards regression. The SOD1-ALS dataset reports age of onset for 1122 and disease duration for 883 people; the comparator population includes 10,214 and 9010 people respectively. Eight variants are associated with younger age of onset and distinct survival trajectories; a further eight associated with younger onset only and one with distinct survival only. Here we show that onset and survival are decoupled in SOD1-ALS. Future research should characterise rarer variants and molecular mechanisms causing the observed variability. Analysis of age of onset and disease duration in a large, international cohort of people with SOD1-ALS shows that there is a distinct phenotype and that onset and progression are decoupled., United Kingdom, Medical Research Council; Economic and Social Research Council; European Community’s Health Seventh Framework Programme; European Research Council (ERC); Horizon 2020; Framework Programme; Programme Grants for Applied Research; Research and Innovation Programme; Avexis/Novartis; United Kingdom Dementia Research Institute; National Institute for Health Research (NIHR) Maudsley Biomedical Research Centre at South London Maudsley Foundation Trust; King’s College London; Motor Neurone Disease Association; ALS Association; Psychiatry Research Trust; Health Holland, Top Sector Life Sciences & Health; ALS Foundation Netherlands

Published
2022

10. Defining SOD1 ALS natural history to guide therapeutic clinical trial design

Author

Bali, Taha, primary, Self, Wade, additional, Liu, Jingxia, additional, Siddique, Teepu, additional, Wang, Leo H, additional, Bird, Thomas D, additional, Ratti, Elena, additional, Atassi, Nazem, additional, Boylan, Kevin B, additional, Glass, Jonathan D, additional, Maragakis, Nicholas J, additional, Caress, James B, additional, McCluskey, Leo F, additional, Appel, Stanley H, additional, Wymer, James P, additional, Gibson, Summer, additional, Zinman, Lorne, additional, Mozaffar, Tahseen, additional, Callaghan, Brian, additional, McVey, April L, additional, Jockel-Balsarotti, Jennifer, additional, Allred, Peggy, additional, Fisher, Elena R, additional, Lopate, Glenn, additional, Pestronk, Alan, additional, Cudkowicz, Merit E, additional, and Miller, Timothy M, additional

Published
2016
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11. Survival and Disease Progression in SOD1 Familial ALS in North America (P3.185)

Author

Bali, Taha, primary, Self, Wade, additional, Siddique, Teepu, additional, Wang, Leo, additional, Ratti, Elena, additional, Boylan, Kevin, additional, Glass, Jonathan, additional, Maragakis, Nicholas, additional, Caress, James, additional, Scherer, Steven, additional, Appel, Stanley, additional, Wymer, James, additional, Gibson, Summer, additional, Zinman, Lorne, additional, Mozaffar, Tahseen, additional, Jockel-Balsarotti, Jennifer, additional, Allred, Margaret, additional, Liu, Esther, additional, Fisher, Elena, additional, Lopate, Glenn, additional, Pestronk, Alan, additional, Cudkowicz, Merit, additional, and Miller, Timothy, additional

Published
2016
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12. Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in ALS

Author

Harms, Matthew B., Cady, Janet, Zaidman, Craig, Cooper, Paul, Bali, Taha, Allred, Peggy, Cruchaga, Carlos, Baughn, Michael, Pestronk, Alan, Goate, Alison, Ravits, John, and Baloh, Robert H.

Subjects
Cohort Studies, Male, C9orf72 Protein, Amyotrophic Lateral Sclerosis, Mutation, Humans, Proteins, Female, Trinucleotide Repeat Expansion, Article, Introns
Abstract

Hexanucleotide repeat expansions in C9ORF72 are a common cause of familial and apparently sporadic amyotrophic lateral sclerosis (ALS) and frontal temporal dementia (FTD). The mechanism by which expansions cause neurodegeneration is unknown, but current evidence supports both loss-of-function and gain-of-function mechanisms. We used pooled next-generation sequencing of the C9ORF72 gene in 389 ALS patients to look for traditional loss-of-function mutations. Although rare variants were identified, none were likely to be pathogenic, suggesting that mutations other than the repeat expansion are not a common cause of ALS, and providing supportive evidence for a gain-of-function mechanism. We also show by repeat-primed PCR genotyping that the C9ORF72 expansion frequency varies by geographical region within the United States, with an unexpectedly high frequency in the Mid-West. Finally we also show evidence of somatic instability of the expansion size by Southern blot, with the largest expansions occurring in brain tissue.

Published
2013

14. Spinal gout mimicking paraspinal abscess: A case report

Author

Udayakumar, Deepak, Kteleh, Tarek, Alfata, Sarab, Bali, Taha, Joseph, Amy, Udayakumar, Deepak, Kteleh, Tarek, Alfata, Sarab, Bali, Taha, and Joseph, Amy

Abstract

Gout is usually thought of as a peripheral joint disease. However, case reports are available describing gouty lesions in the spine. We report a case of a 51 year old African American woman with no previous history of gout who presented with lower back pain and fever and was found to have multiple small fluid collections in the paraspinal muscles at the L3 to L5 levels on the MRI. She was empirically treated with antibiotics, since the fluid was not accessible for drainage initially. Unsuccessful antibiotic therapy and an episode of peripheral gout during this hospitalization prompted the diagnosis of axial gout as the cause for the paraspinal lesions in this patient. CT guided aspiration of the paraspinal lesions confirmed monosodium urate (gout) crystals under polarized microscopy.

Published
2010

17. The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Author

Sarah Opie-Martin, Alfredo Iacoangeli, Simon D. Topp, Olubunmi Abel, Keith Mayl, Puja R. Mehta, Aleksey Shatunov, Isabella Fogh, Harry Bowles, Naomi Limbachiya, Thomas P. Spargo, Ahmad Al-Khleifat, Kelly L. Williams, Jennifer Jockel-Balsarotti, Taha Bali, Wade Self, Lyndal Henden, Garth A. Nicholson, Nicola Ticozzi, Diane McKenna-Yasek, Lu Tang, Pamela J. Shaw, Adriano Chio, Albert Ludolph, Jochen H. Weishaupt, John E. Landers, Jonathan D. Glass, Jesus S. Mora, Wim Robberecht, Philip Van Damme, Russell McLaughlin, Orla Hardiman, Leonard van den Berg, Jan H. Veldink, Phillippe Corcia, Zorica Stevic, Nailah Siddique, Vincenzo Silani, Ian P. Blair, Dong-sheng Fan, Florence Esselin, Elisa de la Cruz, William Camu, Nazli A. Basak, Teepu Siddique, Timothy Miller, Robert H. Brown, Ammar Al-Chalabi, Christopher E. Shaw, Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512), Opie-Martin, Sarah, Iacoangeli, Alfredo, Topp, Simon D., Abel, Olubunmi, Mayl, Keith, Mehta, Puja R., Shatunov, Aleksey, Fogh, Isabella, Bowles, Harry, Limbachiya, Naomi, Spargo, Thomas P., Al-Khleifat, Ahmad, Williams, Kelly L., Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A., Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela J., Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H., Landers, John E., Glass, Jonathan D., Mora, Jesus S., Robberecht, Wim, Van Damme, Philip, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard, Veldink, Jan H., Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Silani, Vincenzo, Blair, Ian P., Fan, Dong-sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Siddique, Teepu, Miller, Timothy, Brown, Robert H., Al-Chalabi, Ammar, Shaw, Christopher E., Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), and School of Medicine

Subjects
General Physics and Astronomy, VARIANTS, epidemiology [Amyotrophic Lateral Sclerosis], AMYOTROPHIC-LATERAL-SCLEROSIS, General Biochemistry, Genetics and Molecular Biology, Superoxide Dismutase-1, genetics [Superoxide Dismutase], Humans, Science & Technology, Multidisciplinary, MUTATIONS, Superoxide Dismutase, Phenotype, Mutation, Amyotrophic Lateral Sclerosis, SOD1 protein, human, General Chemistry, GENE, genetics [Superoxide Dismutase-1], Multidisciplinary Sciences, genetics [Amyotrophic Lateral Sclerosis], Multidisciplinary sciences, Science and technology, Science & Technology - Other Topics, TRIAL, ddc:500
Abstract

Superoxide dismutase (SOD1) gene variants may cause amyotrophic lateral sclerosis, some of which are associated with a distinct phenotype. Most studies assess limited variants or sample sizes. In this international, retrospective observational study, we compare phenotypic and demographic characteristics between people with SOD1-ALS and people with ALS and no recorded SOD1 variant. We investigate which variants are associated with age at symptom onset and time from onset to death or censoring using Cox proportional-hazards regression. The SOD1-ALS dataset reports age of onset for 1122 and disease duration for 883 people; the comparator population includes 10,214 and 9010 people respectively. Eight variants are associated with younger age of onset and distinct survival trajectories; a further eight associated with younger onset only and one with distinct survival only. Here we show that onset and survival are decoupled in SOD1-ALS. Future research should characterise rarer variants and molecular mechanisms causing the observed variability. Analysis of age of onset and disease duration in a large, international cohort of people with SOD1-ALS shows that there is a distinct phenotype and that onset and progression are decoupled., United Kingdom, Medical Research Council; Economic and Social Research Council; European Community’s Health Seventh Framework Programme; European Research Council (ERC); Horizon 2020; Framework Programme; Programme Grants for Applied Research; Research and Innovation Programme; Avexis/Novartis; United Kingdom Dementia Research Institute; National Institute for Health Research (NIHR) Maudsley Biomedical Research Centre at South London Maudsley Foundation Trust; King’s College London; Motor Neurone Disease Association; ALS Association; Psychiatry Research Trust; Health Holland, Top Sector Life Sciences & Health; ALS Foundation Netherlands

Published
2022
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