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2. Spatial analyses of ALS incidence in Denmark over three decades

Author

Vieira, Verónica M, Hansen, Johnni, Gredal, Ole, and Weisskopf, Marc G

Subjects
Biomedical and Clinical Sciences, Neurosciences, Neurodegenerative, ALS, Brain Disorders, Rare Diseases, Neurological, Adult, Amyotrophic Lateral Sclerosis, Denmark, Female, Humans, Incidence, Logistic Models, Longitudinal Studies, Male, Middle Aged, Odds Ratio, Registries, Risk Factors, Spatial Analysis, Young Adult, Amyotrophic lateral sclerosis, spatial analysis, generalized additive models, Clinical Sciences
Abstract

OBJECTIVE:Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of the motor neuron with very few known risk factors. We conducted a spatial epidemiologic analysis of ALS incidence in Denmark to assess the contribution of sociodemographic determinants to geographic variation. METHODS:We analyzed 4249 ALS cases (1982-2013), each with 100 controls matched on sex and birth year. Odds ratio and 95% confidence bands at birth and diagnosis/index locations were calculated using generalized additive models. We included a bivariate spatial smooth for location in our conditional logistic regression adjusted for socioeconomic status and marital status. We also conducted analyses adjusted for both birth and diagnosis addresses to separate location effects. RESULTS:We observed significantly elevated ALS odds near Copenhagen for both the birth and diagnosis period analyses. Sociodemographic factors did not explain the observed patterns. When we further adjusted our spatial analyses by including both birth and diagnosis addresses, the significant area of elevated male ALS odds by birth address shifted to northwest Denmark away from Copenhagen, and there was little evidence of variation among women. Geographic variation at diagnosis differed between male and females, suggesting that patterns are not just due to regional variation in case ascertainment. CONCLUSION:ALS incidence in Denmark is associated with both location at birth and diagnosis, suggesting that geographic variation may be due to exposures occurring at birth or closer to diagnosis, although the latter could relate to case ascertainment issues.

Published
2018

11. Associations of Motor Symptom Severity and Quality of Life to Motor Task Performance in Upper and Lower Extremities Across Task Complexity in Parkinson's Disease.

Author

Malling, Anne Sofie B., Morberg, Bo M., Wermuth, Lene, Gredal, Ole, Bech, Per, and Jensen, Bente R.

Subjects
PARKINSON'S disease, TASK performance, QUALITY of life, SYMPTOMS, TASKS, LEG
Abstract

The authors examined the associations between the performance of upper- and lower-extremity motor tasks across task complexity and motor symptom severity, overall disease severity, and the physical aspects of quality of life in persons with Parkinson's disease. The performance was assessed for three lower-extremity tasks and two upper-extremity tasks of different levels of complexity. The motor symptoms and overall disease severity correlated significantly with all motor tasks with higher correlation coefficients in the complex tasks. Thus, the strength of the association between disease severity or severity of motor symptoms and motor performance is task-specific, with higher values in complex motor tasks than in simpler motor tasks. Mobility-related and activity-of-daily-living-related quality of life correlated with lower-extremity tasks of low and medium complexity and with the complex upper-extremity task, respectively; this suggests that Parkinson's Disease Questionnaire-39 is capable of differentiating between the impact of gross and fine motor function on quality of life. [ABSTRACT FROM AUTHOR]

Published
2019
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13. Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Author

Bladen, Catherine L., Thompson, Rachel, Jackson, Jacqueline M., Garland, Connie, Wegel, Claire, Ambrosini, Anna, Pisano, Paolo, Walter, Maggie C., Schreiber, Olivia, Lusakowska, Anna, Jedrzejowska, Maria, Kostera-Pruszczyk, Anna, van der Pol, Ludo, Wadman, Renske I., Gredal, Ole, Karaduman, Ayse, Topaloglu, Haluk, Yilmaz, Oznur, Matyushenko, Vitaliy, Rasic, Vedrana Milic, Kosac, Ana, Karcagi, Veronika, Garami, Marta, Herczegfalvi, Agnes, Monges, Soledad, Moresco, Angelica, Chertkoff, Lilien, Chamova, Teodora, Guergueltcheva, Velina, Butoianu, Niculina, Craiu, Dana, Korngut, Lawrence, Campbell, Craig, Haberlova, Jana, Strenkova, Jana, Alejandro, Moises, Jimenez, Alatorre, Ortiz, Genaro Gabriel, Enriquez, Gracia Viviana Gonzalez, Rodrigues, Miriam, Roxburgh, Richard, Dawkins, Hugh, Youngs, Leanne, Lahdetie, Jaana, Angelkova, Natalija, Saugier-Veber, Pascal, Cuisset, Jean-Marie, Bloetzer, Clemens, Jeannet, Pierre-Yves, Klein, Andrea, Nascimento, Andres, Tizzano, Eduardo, Salgado, David, Mercuri, Eugenio, Sejersen, Thomas, Kirschner, Jan, Rafferty, Karen, Straub, Volker, Bushby, Kate, Verschuuren, Jan, Beroud, Christophe, and Lochmüller, Hanns

Published
2014
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29. THE AUTHORS REPLY

Author

Dickerson, Aisha S, primary, Hansen, Johnni, additional, Gredal, Ole, additional, and Weisskopf, Marc G, additional

Published
2019
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33. Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS)

Author

Tommerup Niels, Petersen Michael B, Werdelin Lene, Panas Marios, Gredal Ole, Brondum-Nielsen Karen, Silahtaroglu Asli N, and Tümer Zeynep

Subjects
Genetics, QH426-470
Abstract

Abstract Background Amyotrophic lateral sclerosis (ALS) is a progressive lethal disorder of large motor neurons of the spinal cord and brain. In approximately 20% of the familial and 2% of sporadic cases the disease is due to a defect in the gene encoding the cytosolic antioxidant enzyme Cu, Zn-superoxide dismutase (SOD1). The underlying molecular defect is known only in a very small portion of the remaining cases and therefore involvement of other genes is likely. As SOD1 receives copper, essential for its normal function, by the copper chaperone, CCS (Copper Chaperone for SOD), we considered CCS as a potential candidate gene for ALS. Results We have characterized the genomic organization of CCS and determined exon-intron boundaries. The 823 bp coding region of the CCS is organized in 8 exons. We have evaluated involvement of the CCS in ALS by sequencing the entire coding region for mutations in 20 sporadic ALS patients. Conclusions No causative mutations for the ALS have been detected in the CCS gene in 20 sporadic ALS patients analyzed, but an intragenic single nucleotide polymorphism has been identified.

Published
2002
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41. ALS and the Military

Author

Seals, Ryan M., primary, Kioumourtzoglou, Marianthi-Anna, additional, Gredal, Ole, additional, Hansen, Johnni, additional, and Weisskopf, Marc G., additional

Published
2015
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50. Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Author

Bladen, Catherine L., primary, Thompson, Rachel, additional, Jackson, Jacqueline M., additional, Garland, Connie, additional, Wegel, Claire, additional, Ambrosini, Anna, additional, Pisano, Paolo, additional, Walter, Maggie C., additional, Schreiber, Olivia, additional, Lusakowska, Anna, additional, Jedrzejowska, Maria, additional, Kostera-Pruszczyk, Anna, additional, van der Pol, Ludo, additional, Wadman, Renske I., additional, Gredal, Ole, additional, Karaduman, Ayse, additional, Topaloglu, Haluk, additional, Yilmaz, Oznur, additional, Matyushenko, Vitaliy, additional, Rasic, Vedrana Milic, additional, Kosac, Ana, additional, Karcagi, Veronika, additional, Garami, Marta, additional, Herczegfalvi, Agnes, additional, Monges, Soledad, additional, Moresco, Angelica, additional, Chertkoff, Lilien, additional, Chamova, Teodora, additional, Guergueltcheva, Velina, additional, Butoianu, Niculina, additional, Craiu, Dana, additional, Korngut, Lawrence, additional, Campbell, Craig, additional, Haberlova, Jana, additional, Strenkova, Jana, additional, Alejandro, Moises, additional, Jimenez, Alatorre, additional, Ortiz, Genaro Gabriel, additional, Enriquez, Gracia Viviana Gonzalez, additional, Rodrigues, Miriam, additional, Roxburgh, Richard, additional, Dawkins, Hugh, additional, Youngs, Leanne, additional, Lahdetie, Jaana, additional, Angelkova, Natalija, additional, Saugier-Veber, Pascal, additional, Cuisset, Jean-Marie, additional, Bloetzer, Clemens, additional, Jeannet, Pierre-Yves, additional, Klein, Andrea, additional, Nascimento, Andres, additional, Tizzano, Eduardo, additional, Salgado, David, additional, Mercuri, Eugenio, additional, Sejersen, Thomas, additional, Kirschner, Jan, additional, Rafferty, Karen, additional, Straub, Volker, additional, Bushby, Kate, additional, Verschuuren, Jan, additional, Beroud, Christophe, additional, and Lochmüller, Hanns, additional

Published
2013
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