The natural history of degenerative ataxia: a retrospective study in 466 patients

Title

The natural history of degenerative ataxia: a retrospective study in 466 patients

Creator

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

Publisher

Brain

Date

1998

Subject

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

Description

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

Rights

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

Journal Article

Citation List Month

Backlog

Pages

589-600

Volume

121 ( Pt 4)

Citation

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, “The natural history of degenerative ataxia: a retrospective study in 466 patients,” Pediatric Palliative Care Library, accessed January 23, 2022, https://pedpalascnetlibrary.omeka.net/items/show/12043.

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