Follow‐up of 25 patients with treatable ataxia: A comprehensive case series study (original) (raw)
Related papers
Comparison of cerebellar ataxias: A three-year prospective longitudinal assessment
Movement Disorders, 2011
A B S T R A C T : We quantitatively investigated the clinical severity and progression of diseases with ataxia, as measured with the Scale for the Assessment and Rating of Ataxia, and examined the potential application of the Scale for the Assessment and Rating of Ataxia for future therapeutic trials. Severity of ataxia was assessed in 238 patients with spinocerebellar ataxia type 2, spinocerebellar ataxia type 3, spinocerebellar ataxia type 6, spinocerebellar ataxia type 17, multiple system atrophycerebellar variant, or Gerstman-Strä ussler-Scheinker disease. Among them, 119 (50%) were longitudinally examined three to seven times, in a period of 8 to 38 months, resulting in a total set of 535 assessments. The differences between spinocerebellar ataxia and multiple system atrophy-cerebellar variant were ascertained cross-sectionally and longitudinally. Gerstman-Strä ussler-Scheinker disease had the fastest progression, followed by multiple system atrophy-cerebellar variant, spinocerebellar ataxia type 17, spinocerebellar ataxia type 3, spinocerebellar ataxia type 2, and spinocerebellar ataxia type 6. Patients with multiple system atrophy-cerebellar variant had a faster progression in gait, sitting, speech, and total score than patients with spinocerebellar ataxias. For a randomized, case-control trial, a sample size of 47 for spinocerebellar ataxia and 85 for multiple system atrophycerebellar variant in the treatment or placebo arms would have a sufficient statistical power to demonstrate the efficacy of a new therapy that would retard ataxia progression by 1 point per year as measured by the Scale for the Assessment and Rating of Ataxia. The results will have a significant impact on the planning and implementation of future therapeutic trials of spinocerebellar ataxia and multiple system atrophy-cerebellar variant. V C 2011 Movement Disorder Society
The Cerebellum, 2019
There is currently no accepted classification of autosomal recessive cerebellar ataxias, a group of disorders characterized by important genetic heterogeneity and complex phenotypes. The objective of this task force was to build a consensus on the classification of autosomal recessive ataxias in order to develop a general approach to a patient presenting with ataxia, organize disorders according to clinical presentation, and define this field of research by identifying common pathogenic molecular mechanisms in these disorders. The work of this task force was based on a previously published systematic scoping review of the literature that identified autosomal recessive disorders characterized primarily by cerebellar motor dysfunction and cerebellar degeneration. The task force regrouped 12 international ataxia experts who decided on general orientation and specific issues. We identified 59 disorders that are classified as primary autosomal recessive cerebellar ataxias. For each of these disorders, we present geographical and ethnical specificities along with distinctive clinical and imagery features. These primary recessive ataxias were organized in a clinical and a pathophysiological classification, and we present a general clinical approach to the patient presenting with ataxia. We also identified a list of 48 complex multisystem disorders that are associated with ataxia and should be included in the differential diagnosis of autosomal recessive ataxias. This classification is the result of a consensus among a panel of international experts, and it promotes a unified understanding of autosomal recessive cerebellar disorders for clinicians and researchers.
Treatable Ataxia: a comprehensive case series study
2021
Autosomal recessive cerebellar ataxias are a group of heterogeneous early-onset progressive disorders that some of them are treatable. We performed 4-year-follow up for 25 patients that considered as treatable ataxia in the literature. According to our study, patients would benefit from early detection of treatable ataxia, close observation, and follow-up.
Prevalence of ataxia in children: A systematic review
Neurology, 2013
Objective: To estimate the prevalence of childhood ataxia resulting from both genetic and acquired causes. Methods: A systematic review was conducted following the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-analyses) statement. Five databases were searched for articles reporting a frequency measure (e.g., prevalence, incidence) of ataxia in children. Included articles were first grouped according to the World Health Organization (WHO) regions and subsequently classified according to etiology (genetic, acquired, or mixed). Each article was assessed for its risk of bias on the domains of sampling, measurement, and analysis. Incidence values were converted to prevalence estimates whenever possible. European prevalence estimates for different etiologies of ataxia were summed to gauge the overall prevalence of childhood ataxia. Results: One hundred fifteen articles were included in the review. More than 50% of the data originated from the Europe WHO region. Data from this region also showed the least susceptibility to bias. Little data were available for Africa and Southeast Asia. The prevalence of acquired ataxias was found to vary more greatly across regions than the genetic ataxias. Ataxic cerebral palsy was found to be a significant contributor to the overall prevalence of childhood ataxia across WHO regions. The prevalence of childhood ataxias in Europe was estimated to be ;26/100,000 children and likely reflects a minimum prevalence worldwide. Conclusions: The findings show that ataxia is a common childhood motor disorder with a higher prevalence than previously assumed. More research concerning the epidemiology, assessment, and treatment of childhood ataxia is warranted. Neurology ® 2014;82:80-89 GLOSSARY CI 5 confidence interval; TAN 5 tropical ataxic neuropathy; WHO 5 World Health Organization. Ataxia refers to a lack or loss of movement coordination. It is associated with damage or dysfunction of the cerebellum or its afferent and efferent projections. 1 Ataxia is especially debilitating for children because they are still developing and learning motor competency. 2 Childhood ataxia can have hereditary causes, such as ataxia telangiectasia, or acquired causes, such as infection or tumor. The duration of ataxia varies greatly: from short, transient episodes, such as postinfectious cerebellar demyelination, 3 to lifelong conditions, such as Dandy-Walker syndrome. The prevalence of some ataxia-causing conditions has been reported. However, most reports are focused on a single condition and a specific geographical location, making it difficult to generalize the prevalence estimates. Furthermore, few studies separate the prevalence of ataxia in children vs adults. 4-12 Given the multitude of ataxia-causing conditions and recognizing that each can be quite rare, the overall prevalence of childhood ataxia is likely underestimated. Yet overall prevalence data are needed to accurately assess the impact and societal cost of childhood ataxia. The purpose of this article is to systematically review the literature on the prevalence of ataxia in children across World Health Organization (WHO) regions. The prevalence of childhood
Autosomal dominant cerebellar ataxias - a systematic review of clinical features.PDF
2014
BACKGROUND AND PURPOSE: To assess, through systematic review, distinctive or common clinical signs of autosomal dominant cerebellar ataxias (ADCAs), also referred to as spinocerebellar ataxias (SCAs) in genetic nomenclature. METHODS: This was a structured search of electronic databases up to September 2012 conducted by two independent reviewers. Publications containing proportions or descriptions of ADCA clinical features written in several languages were selected. Gray literature was included and a back-search was conducted of retrieved publication reference lists. Initial selection was based on title and abstract screening, followed by full-text reading of potentially relevant publications. Clinical findings and demographic data from genetically confirmed patients were extracted. Data were analyzed using the chi-squared test and controlled for alpha-error inflation by applying the Holms step-down procedure. RESULTS: In all, 1062 publications reviewing 12 141 patients (52% male) from 30 SCAs were analyzed. Mean age at onset was 35 ± 11 years. Onset symptoms in 3945 patients revealed gait ataxia as the most frequent sign (68%), whereas overall non-ataxia symptom frequency was 50%. Some ADCAs often presented non-ataxia symptoms at onset, such as SCA7 (visual impairment), SCA14 (myoclonus) and SCA17 (parkinsonism). Therefore a categorization into two groups was established: pure ataxia and mainly non-ataxia forms. During overall disease course, dysarthria (90%) and saccadic eye movement alterations (69%) were the most prevalent non-ataxia findings. Some ADCAs were clinically restricted to cerebellar dysfunction, whilst others presented additional features. CONCLUSIONS: Autosomal dominant cerebellar ataxias encompass a broad spectrum of clinical features with high prevalence of non-ataxia symptoms. Certain features distinguish different genetic subtypes. A new algorithm for ADCA classification at disease onset is proposed.
“The red flags” in clinical approach to acute ataxia – the experience in cohort of 76 children
Objectives: The aim of our study is to define the most frequent etiology, clinical presentation, and predictive factors of outcome in children with acute ataxia (AA) and to determine “the red flags” in the diagnostic approach to children with AA. Methods: The retrospective study included the patients with AA treated in Institute from 2015 - 2021. The inclusion criteria were: children aged 1 - 18 years; evolution time of ataxia within 72 hours, diagnosis made by a physician. The exclusion criteria were: anamnestic data about ataxia without confirmation by any physician; chronic/persistent ataxia; psychogenic or postictal ataxia. Clinical presentation was divided into two categories: 1. isolated cerebellar signs (CS): ataxic gait, dysmetria, dysdiadochokinesia, intention tremor, dysarthria, and nystagmus; 2. CS-plus symptoms which included CS associated with any of other symptoms such as encephalopathy (GCS <15), awareness disturbances, vomiting, headache, a new onset limb or facia...
Prevalence of Ataxia in Children
Ataxia refers to a lack or loss of movement coordination. It is associated with damage or dysfunction of the cerebellum or its afferent and efferent projections.1 Ataxia is especially debilitating for children because they are still developing and learning motor competency. 2 Childhood ataxia can have hereditary causes, such as ataxia telangiectasia, or acquired causes, such as infection or tumor. The duration of ataxia varies greatly: from short, transient episodes, such as post infectious cerebellar demyelination,3 to lifelong conditions, such as Dandy-Walker syndrome. The prevalence of some ataxia-causing conditions has been reported. However, most reports are focused on a single condition and a specific geographical location, making it difficult to generalize the prevalence estimates. Furthermore, few studies separate the prevalence of ataxia in children vs adults.4–12 Given the multitude of ataxia-causing conditions and recognizing that each can be quite rare, the overall prevalence of childhood ataxia is likely underestimated. Yet overall prevalence data are needed to accurately assess the impact and societal cost of childhood ataxia. The purpose of this article is to systematically review the literature on the prevalence of ataxia in children across World Health Organization (WHO) regions. The prevalence of childhood ataxia is estimated by systematically examining prevalence estimates for the many different causes of childhood ataxia.
Iranian Journal of Child Neurology, 2017
Objective This study was conducted on the demographic data, clinical characteristics, electroencephalography, neuroradiological findings, and their impact on the recurrence of ataxia. Materials & Methods A 3-yr retrospective review of 49 children with ataxia in Mofid Children Hospital, Tehran, Iran was conducted from Apr 2013 to Apr 2016. The demographic, clinical and paraclinical data were recorded in pre-prepared questionnaires. The patients were also classified in two groups of with or without recurrence and the results were compared. The diagnostic etiologies in our patients were classified as brain tumor, drug ingestion, encephalitis, post infectious immune-mediated disorders, pseudoataxia, trauma, congenital malformations of the central nervous system and hereditary ataxias. Results Forty-nine children with ataxia were enrolled. The mean age of the patients with a recurrence of ataxia was more than those without a recurrence. Neurodevelopmental delay in patients with recurrenc...
Investigating ataxia in childhood
Archives of disease in childhood - Education & practice edition, 2019
Ataxia is a common presentation to an acute paediatric unit and it can often be difficult to determine the cause. It is important to distinguish between serious causes, for example, brain tumours and encephalitis, and more benign causes in order to guide investigations and treatment. In this review, we describe the different types of ataxia, the causes associated with them, the examination findings and what investigations to perform in order to make a diagnosis.