Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease
- Authors: Healy, Daniel , Falchi, Mario , O'Sullivan, Sean , Bonifati, Vincenzo , Durr, Alexandra , Bressman, Susan , Brice, Alexis , Aasly, Jan , Zabetian, Cyrus , Goldwurm, Stefano , Ferreira, Joaquim , Tolosa, Eduardo , Kay, Denise , Klein, Christine , Williams, David , Marras, Connie , Lang, Anthony , Wszolek, Zbigniew , Berciano, Jose , Schapira, Anthony , Lynch, Timothy , Bhatia, Kailash , Gasser, Thomas , Lees, Andrew , Wood, Nicholas
- Date: 2008
- Type: Text , Journal article
- Relation: The Lancet Neurology Vol. 7, no. 7 (2008), p. 583-590
- Full Text: false
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- Description: Background Mutations in LRRK2, the gene that encodes leucine-rich repeat kinase 2, are a cause of Parkinson's disease (PD). The International LRRK2 Consortium was established to answer three key clinical questions: can LRRK2-associated PD be distinguished from idiopathic PD; which mutations in LRRK2 are pathogenic; and what is the age-specific cumulative risk of PD for individuals who inherit or are at risk of inheriting a deleterious mutation in LRRK2? Methods Researchers from 21 centres across the world collaborated on this study. The frequency of the common LRRK2 Gly2019Ser mutation was estimated on the basis of data from 24 populations worldwide, and the penetrance of the mutation was defined in 1045 people with mutations in LRRK2 from 133 families. The LRRK2 phenotype was defined on the basis of 59 motor and non-motor symptoms in 356 patients with LRRK2-associated PD and compared with the symptoms of 543 patients with pathologically proven idiopathic PD. Findings Six mutations met the consortium's criteria for being proven pathogenic. The frequency of the common LRRK2 Gly2019Ser mutation was 1% of patients with sporadic PD and 4% of patients with hereditary PD; the frequency was highest in the middle east and higher in southern Europe than in northern Europe. The risk of PD for a person who inherits the LRRK2 Gly2019Ser mutation was 28% at age 59 years, 51% at 69 years, and 74% at 79 years. The motor symptoms (eg, disease severity, rate of progression, occurrence of falls, and dyskinesia) and non-motor symptoms (eg, cognition and olfaction) of LRRK2-associated PD were more benign than those of idiopathic PD. Interpretation Mutations in LRRK2 are a clinically relevant cause of PD that merit testing in patients with hereditary PD and in subgroups of patients with PD. However, this knowledge should be applied with caution in the diagnosis and counselling of patients.
Father Zimmerman (1871-1950) : the first Brazilian diamotist
- Authors: Gomes, Doriedson Ferreira , Caldas, Obderan , Mendes, Eduardo da Silva , Gell, Peter , Williams, David
- Date: 2012
- Type: Text , Journal article
- Relation: Diatom Research Vol. 27, no. 3 (2012), p. 177-188
- Full Text: false
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- Description: This paper describes the scientific life of Father Zimmermann, Brazil's first diatomist. Father Zimmermann, a Jesuit priest born in Ehingen, Germany in 1871, studied theology in Britain in the early 20th century. His scientific life began in Portugal where, with other Jesuits, he founded the scientific journal Brotéria, for which he wrote several papers on diatoms. After the fall of the Portuguese monarchy in 1910, several conservative priests, including Zimmermann, immigrated to Brazil. In Brazil, he became a teacher at the Padre Antonio Vieira School in Salvador in the state of Bahia, where he taught a myriad of disciplines. In addition to his teaching and religious activities, along with his fellow priests, Zimmermann continued to edit Brotéria. By the end of his career in Portugal, Zimmermann had described a total of 69 new but not all valid diatom names. In 1913, Zimmermann began a series of articles entitled ‘Contribuição para o estudo das diatomaceas dos Estados Unidos do Brazil’ (Contribution to the study of diatoms of the United States of Brazil), in which he described two new genera and 49 new species from rivers, lakes, wetlands, reservoirs and beaches in the states of Bahia, Minas Gerais, Rio de Janeiro, São Paulo and Rio Grande do Sul. In addition to his taxonomic descriptions, Zimmermann who was an accomplished naturalist, also wrote about diatom movements and evolution. His diatom studies were compiled in a book entitled Diatomées, which has never been published. Father Zimmermann's contribution to the study of diatoms deserves proper recognition. This paper aims to serve such purpose. Farther Zimmermann died in Salvador in 1950.
Successful protection against canid predation on Little Penguins (Eudyptula Minor) in Australia using Maremma guardian dogs: ‘The Warrnambool method’
- Authors: King, Kristie , Wallis, Robert , Wallis, Anne , Peucker, Amanda , Williams, David
- Date: 2015
- Type: Text , Journal article
- Relation: International Journal of Arts & Sciences Vol. , no. (2015), p.
- Full Text: false
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- Description: The Little Penguin (Eudyptula minor) is the world’s smallest penguin, weighing up to 1.2 kg. It lives in coastal environments along southern Australia and New Zealand and breeds on sand dunes and rocky outcrops of islands and mainland sites where it can be safe from predation. Little Penguins have bred on Middle Island, Warrnambool on the Victorian coast in Australia for at least 60 years. In 1999 a survey found 342 active penguin burrows and a population of over 500 adult penguins breeding on the island. The colony was then subjected to intense predation by the introduced Red Fox (Vulpes vulpes), so that by 2005 only four birds were recorded arriving on the island to breed. Fox control methods proved ineffective and the colony seemed doomed to extirpation. However, since introduction of Maremma guardian dogs to the island in 2006, there has been an apparent cessation of fox predation of the island’s seabirds. This has facilitated a steady increase in the number of penguins breeding on the island. Data on the colony’s recovery are presented as well as a description of critical factors in this successful wildlife management process. Using guardian dogs to help protect threatened but heavily predated populations has become known as “the Warrnambool method for conserving wildlife”.