WorldCat Identities

Stefanis, Leonidas

Overview
Works: 10 works in 23 publications in 1 language and 508 library holdings
Roles: Author, Other, Editor
Publication Timeline
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Most widely held works by Leonidas Stefanis
The proteasome in neurodegeneration by Leonidas Stefanis( )

14 editions published between 2006 and 2014 in English and Undetermined and held by 494 WorldCat member libraries worldwide

There is increasing evidence that links together various common neurodegenerative diseases, such as Parkinson's and Alzheimer's diseases. Finding common themes in the pathophysiology of such disorders is increasingly important. This text addresses such a common theme - the proteasome. Since the discovery of the proteasome some 20 years ago, significant strides have been made in our understanding of proteasome biology and our understanding of the role the proteasome plays in a wide variety of biochemical events. Taken together, these studies have confirmed an important role for the proteasome in the fields of cell biology, oncology, immunology, gerontology, and neuroscience. The focus of this book is to provide an in depth analysis and provocative discussion of what role normal and aberrant proteasome function plays in regulating various aspects of brain homeostasis
Animal models for neurodegenerative disease by Jesús Avila( )

1 edition published in 2011 in English and held by 7 WorldCat member libraries worldwide

Annotation
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1 edition published in 2016 in English and held by 1 WorldCat member library worldwide

ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients( )

1 edition published in 2017 in English and held by 1 WorldCat member library worldwide

Abstract: Introduction: ADCY5 mutations have been recently identified as an important cause of early-onset hyperkinetic movement disorders. The phenotypic spectrum associated with mutations in this gene is expanding. However, the ADCY5 mutational frequency in cohorts of paediatric patients with hyperkinetic movement disorders has not been evaluated. Methods: We performed a screening of the entire ADCY5 coding sequence in 44 unrelated subjects with genetically undiagnosed childhood-onset hyperkinetic movement disorders, featuring chorea alone or in combination with myoclonus and dystonia. All patients had normal CSF analysis and brain imaging and were regularly followed-up in tertiary centers for paediatric movement disorders. Results: We identified five unrelated subjects with ADCY5 mutations (11% of the cohort). Three carried the p. R418W mutation, one the p. R418Q and one the p. R418G mutation. Mutations arose de novo in four cases, while one patient inherited the mutation from his similarly affected father. All patients had delayed motor and/or language milestones with or without axial hypotonia and showed generalized chorea and dystonia, with prominent myoclonic jerks in one case. Episodic exacerbations of the baseline movement disorder were observed in most cases, being the first disease manifestation in two patients. The disease course was variable, from stability to spontaneous improvement during adolescence. Conclusion: Mutations in ADCY5 are responsible for a hyperkinetic movement disorder that can be preceded by episodic attacks before the movement disorder becomes persistent and is frequently misdiagnosed as dyskinetic cerebral palsy. A residual degree of neck hypotonia and a myopathy-like facial appearance are frequently observed in patients with ADCY5 mutations. Highlights: ADCY5 mutational frequency in paediatric patients is unknown. 5/44 (11%) subjects in our cohort carried pathogenic ADCY5 mutations. Chorea-dystonia, exacerbations and developmental delay are often observed together. Disease course and clinical features are variable among patients with ADCY5 mutations. Residual cervical hypotonia and a myopathy-like face are additional diagnostic clues
The different faces of the p. A53T alpha-synuclein mutation: A screening of Greek patients with parkinsonism and/or dementia( )

1 edition published in 2018 in English and held by 1 WorldCat member library worldwide

Highlights: The p. A53T SNCA mutation is relatively common in Greek patients with PD or PD plus dementia. A53T-positive patients usually present with pure parkinsonism but rarely may present with dementia. Greek PD patients with positive family history and/or early onset should undergo testing for the p. A53T mutation. Abstract: Background: The p. A53T mutation in the alpha-synuclein ( SNCA ) gene is a rare cause of autosomal dominant Parkinson's disease (PD). Although generally rare, it is particularly common in the Greek population due to a founder effect. A53T-positive PD patients often develop dementia during disease course and may very rarely present with dementia. Methods: We screened for the p. A53T SNCA mutation a total of 347 cases of Greek origin with parkinsonism and/or dementia, collected over 15 years at the Neurogenetics Unit, Eginition Hospital, University of Athens. Cases were classified into: "pure parkinsonism", "pure dementia" and "parkinsonism plus dementia". Results: In total, 4 p. A53T SNCA mutation carriers were identified. All had autosomal dominant family history and early onset. Screening of the "pure parkinsonism" category revealed 2 cases with typical PD. The other two mutation carriers were identified in the "parkinsonism plus dementia" category. One had a diagnosis of PD dementia and the other of behavioral variant frontotemporal dementia. Screening of patients with "pure dementia" failed to identify any further A53T-positive cases. Conclusions: Our results confirm that the p. A53T SNCA mutation is relatively common in Greek patients with PD or PD plus dementia, particularly in cases with early onset and/or autosomal dominant family history
Frontotemporal dementia as the presenting phenotype of p.A53T mutation carriers in the alpha-synuclein gene( )

1 edition published in 2017 in English and held by 1 WorldCat member library worldwide

Alpha-synuclein dimerization in erythrocytes of patients with genetic and non-genetic forms of Parkinson's Disease( )

1 edition published in 2018 in English and held by 1 WorldCat member library worldwide

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1 edition published in 2018 in English and held by 1 WorldCat member library worldwide

Decreased levels of alpha-synuclein in cerebrospinal fluid of patients with clinically isolated syndrome and multiple sclerosis( )

1 edition published in 2015 in English and held by 1 WorldCat member library worldwide

Impaired degradation of mutant, -synuclein by chaperone-mediated autophagy by Ana Maria Cuervo( )

1 edition published in 2004 in English and held by 0 WorldCat member libraries worldwide

 
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The proteasome in neurodegeneration
Covers
Animal models for neurodegenerative disease
Languages
English (22)