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40
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Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1093/brain/121.4.589" target="_blank" rel="noreferrer">http://doi.org/10.1093/brain/121.4.589</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
The natural history of degenerative ataxia: a retrospective study in 466 patients
Publisher
An entity responsible for making the resource available
Brain
Date
A point or period of time associated with an event in the lifecycle of the resource
1998
Subject
The topic of the resource
Child; Female; Humans; Male; Adult; Prognosis; Aged; Middle Aged; Disease Progression; Survival Analysis; Risk Factors; Time Factors; Wheelchairs; Gait; adolescent; Preschool; Q3 Literature Search; retrospective studies; Age of Onset; Sex Characteristics; Cerebellar Ataxia/genetics/mortality/physiopathology; Friedreich Ataxia/genetics/mortality/physiopathology; Multiple System Atrophy/genetics/mortality/physiopathology; Spinocerebellar Degenerations/genetics/mortality/physiopathology; Trinucleotide Repeats
Creator
An entity primarily responsible for making the resource
Klockgether T; Ludtke R; Kramer B; Abele M; Burk K; Schols L; Riess O; Laccone F; Boesch S; Lopes-Cendes I; Brice A; Inzelberg R; Zilber N; Dichgans J
Description
An account of the resource
The aim of the present study was (i) to compare disease progression and survival in different types of degenerative ataxia, and (ii) to identify variables that may modify the rate of disease progression. We included patients suffering from Friedreich's ataxia (FRDA, n = 83), early onset cerebellar ataxia (EOCA, n = 30), autosomal dominant cerebellar ataxia (ADCA) type I (ADCA-I, n = 273), ADCA-III (n = 13) and multiple system atrophy (MSA, n = 67). Molecular genetic testing allowed us to assign 202 ADCA-I patients to one of the following subgroups: spinocerebellar ataxia type I (SCAI, n = 36), SCA2 (n = 56) and SCA3 (n = 110). To assess disease progression we defined the following disease stages: stage 0 = no gait difficulties; stage 1 = disease onset, as defined by onset of gait difficulties; stage 2 = loss of independent gait; stage 3 = confinement to wheelchair; stage 4 = death. Disease progression was most rapid in MSA, intermediate in FRDA, ADCA-I and ADCA-III and slowest in EOCA. The rate of progression was similar in SCA1, SCA2 and SCA3. The CAG repeat length was a significant risk factor for faster progression in SCA2 and SCA3, but not in SCA1. In FRDA, the time until confinement to wheelchair was shorter in patients with earlier disease onset, suggesting that patients with long GAA repeats and early disease onset have a poor prognosis. Female gender increased the risk of becoming dependent on walking aids or a wheelchair, but it did not influence survival in FRDA, SCA3 and MSA. In SCA2, female gender was associated with shortened survival. In MSA, later age of onset increased the risk of rapid progression and death.
1998
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1093/brain/121.4.589" target="_blank" rel="noreferrer">10.1093/brain/121.4.589</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
1998
Abele M
Adolescent
Adult
Age of Onset
Aged
Backlog
Boesch S
Brain
Brice A
Burk K
Cerebellar Ataxia/genetics/mortality/physiopathology
Child
Dichgans J
Disease Progression
Female
Friedreich Ataxia/genetics/mortality/physiopathology
Gait
Humans
Inzelberg R
Journal Article
Klockgether T
Kramer B
Laccone F
Lopes-Cendes I
Ludtke R
Male
Middle Aged
Multiple System Atrophy/genetics/mortality/physiopathology
Preschool
Prognosis
Q3 Scoping Review Results
Retrospective Studies
Riess O
Risk Factors
Schols L
Sex Characteristics
Spinocerebellar Degenerations/genetics/mortality/physiopathology
Survival Analysis
Time Factors
Trinucleotide Repeats
Wheelchairs
Zilber N
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1126/science.282.5391.1075" target="_blank" rel="noreferrer">http://doi.org/10.1126/science.282.5391.1075</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Genetic classification of primary neurodegenerative disease
Publisher
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Science
Date
A point or period of time associated with an event in the lifecycle of the resource
1998
Subject
The topic of the resource
Humans; Mutation; Brain; Neurodegenerative Diseases; Genes; Trinucleotide Repeats; Parkinson Disease; Alzheimer Disease; Dominant; Nerve Tissue Proteins; Peptides; Synucleins; tau Proteins
Creator
An entity primarily responsible for making the resource
Hardy J; Gwinn-Hardy K
Description
An account of the resource
Review During the past 10 years (the "decade of the brain"), some of the genetic causes of many of the primary neurodegenerative diseases, which include Alzheimer's disease, Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis, prion disease, and many ataxic syndromes, have been found. These breakthroughs mean that for many of these diseases we now know the initiating trigger as well as the final outcome. These diseases have many pathological mechanisms in common, and there may be relatively few pathways to neuronal death seen in these disorders. Thus, treatment strategies developed for a particular disease may be found to have efficacy in more than one disorder.
1998-11
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1126/science.282.5391.1075" target="_blank" rel="noreferrer">10.1126/science.282.5391.1075</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
1998
Alzheimer Disease
Backlog
Brain
Dominant
Genes
Gwinn-Hardy K
Hardy J
Humans
Journal Article
Mutation
Nerve Tissue Proteins
Neurodegenerative Diseases
Parkinson Disease
Peptides
Science
Synucleins
tau Proteins
Trinucleotide Repeats