The natural history of degenerative ataxia: a retrospective study in 466 patients
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
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
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
Brain
1998
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).
Journal Article
<a href="http://doi.org/10.1093/brain/121.4.589" target="_blank" rel="noreferrer">10.1093/brain/121.4.589</a>
Temporal and spatial gait parameters in children with Cri du Chat Syndrome under single and dual task conditions
Children; Orthopedics; motor; Gait; Neurosciences & Neurology; walking; Sport Sciences; performance; concurrent task; Cri du Chat Syndrome; Dual-task; older-adults; parkinsons-disease; tone and motor problems; trajectory; characteristics
Aim: To describe temporal and spatial gait characteristics in individuals with Cri du Chat syndrome (CdCS) and to explore the effects of performing concurrent manual tasks while walking. Methods: The gait parameters of 14 participants with CdCS (mean age 10.3, range 3-20 years) and 14 age matched controls (mean age 10.1, range 3-20 years) were collected using the GAITRite (R) instrumented walkway. All participants first walked without any concurrent tasks and then performed 2 motor dual task walking conditions (pitcher and tray). Results: Individuals with CdCS took more frequent, smaller steps than controls, but, on average, had a comparable gait speed. In addition, there was a significant task by group interaction. Participants decreased gait speed, decreased cadence, decreased step length, and increased% time in double limb support under dual task conditions compared to single task conditions. However, the age-matched controls altered their gait for both manual tasks, and the participants with CdCS only altered their gait for the tray task. Interpretation: Although individuals with CdCS ambulate with a comparable gait speed to age-matched controls under single task conditions, they did not significantly alter their gait when carrying a pitcher with a cup of water inside, like controls. It is not clear whether or not individuals with CdCS had difficulty attending to task demands or had difficulty modifying their gait. (C) 2016 Elsevier B.V. All rights reserved.
Abbruzzese L D; Salazar R; Aubuchon M; Rao A K
Gait & Posture
2016
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).
<a href="http://doi.org/10.1016/j.gaitpost.2016.08.006" target="_blank" rel="noreferrer noopener">10.1016/j.gaitpost.2016.08.006</a>
Functional and gait assessment in children and adolescents affected by Friedreich's ataxia: A one-year longitudinal study
adolescent; reliability; preschool child; longitudinal study; human; article; child; female; male; controlled study; clinical article; walking; Friedreich's ataxia; functional assessment; gait; assessment of humans; Gait Analysis and the Scale for the Assessment and Rating of Ataxia; step length; stride length; walking velocity; tone and motor problems; trajectory; characteristics
Friedreich's ataxia is the most common autosomal recessive form of neurodegenerative ataxia. We present a longitudinal study on the gait pattern of children and adolescents affected by Friedreich's ataxia using Gait Analysis and the Scale for the Assessment and Rating of Ataxia (SARA). We assessed the spectrum of changes over 12 months of the gait characteristics and the relationship between clinical and instrumental evaluations. We enrolled 11 genetically confirmed patients affected by Friedreich's ataxia in this study together with 13 normally developing age-matched subjects. Eight patients completed a 12-month follow-up under the same protocol. By comparing the gait parameters of Friedreich's ataxia with the control group, we found significant differences for some relevant indexes. In particular, the increased knee and ankle extension in stance revealed a peculiar biomechanical pattern, which correlated reliably with SARA Total, Gait and Sitting scores. The knee pattern showed its consistency also at the follow-up: Knee extension increased from 6.8+/-3.5degree to -0.5+/-3.7degree and was significantly correlated with the SARA total score. This feature anticipated the loss of the locomotor function in two patients. In conclusion, our findings demonstrate that the selective and segmental analysis of kinetic/kinematic features of ataxic gait, in particular the behavior of the knee, provides sensitive measures to detect specific longitudinal and functional alterations, more than the SARA scale, which however has proved to be a reliable and practical assessment tool. Functional outcomes measures integrated by instrumental evaluation increase their sensitivity, reliability and suitability for the follow-up of the disease progression and for the application in clinical trials and in rehabilitative programs.
Vasco G; Gazzellini S; Petrarca M; Lispi M L; Pisano A; Zazza M; Bella G D; Castelli E; Bertini E
PLoS ONE
2016
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).
<a href="http://doi.org/10.1371/journal.pone.0162463" target="_blank" rel="noreferrer noopener">10.1371/journal.pone.0162463</a>