ArticleJournal of child neurology2012
Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients.
Article in Journal of child neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- Pooled it
- Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.International journal of molecular sciences · 2023Article
- Review
- Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.Movement disorders clinical practice · 2020Article
- Childhood-onset cerebellar ataxia in Japan: A questionnaire-based survey.Brain and behavior · 2019Article
- Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family.Cerebellum (London, England) · 2018Article
- Cerebellum and neurodegenerative diseases: Beyond conventional magnetic resonance imaging.World journal of radiology · 2017Review
- Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis.Neuroradiology · 2016Article
- Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.Orphanet journal of rare diseases · 2016Article
- PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.Brain : a journal of neurology · 2015Article
- Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.Journal of neurology · 2015Article
- Radiological imaging in ataxia telangiectasia: a review.Cerebellum (London, England) · 2014Review
- X-ray fluorescence imaging reveals subcellular biometal disturbances in a childhood neurodegenerative disorder.Chemical science · 2014Article
- ICON: the early diagnosis of congenital immunodeficiencies.Journal of clinical immunology · 2014Review
- Subcutaneous fat pads on body MRI--an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a).Pediatric radiology · 2014Article
- Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability.JIMD reports · 2014Article
- Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.Neurogenetics · 2013Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Hereditary ataxias associated with cerebellar atrophy are a heterogeneous group of disorders. Selection of appropriate clinical and genetic tests for patients with cerebellar atrophy poses a diagnostic challenge. Neuroimaging is a crucial initial investigation in the diagnostic evaluation of ataxia in childhood, and the presence of cerebellar atrophy helps guide further investigations. We performed a detailed review of 300 patients with confirmed cerebellar atrophy on magnetic resonance imaging over a 10-year period. A diagnosis was established in 47% of patients: Mitochondrial disorders were most common, followed by neuronal ceroid lipofuscinosis, ataxia telangiectasia, and late-onset GM2 gangliosidosis. We review the common causes of cerebellar atrophy in childhood and propose a diagnostic approach based on correlating specific neuroimaging patterns with clinical and genetic diagnoses.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.