ArticleAJNR. American journal of neuroradiology2012
The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a.
Article in AJNR. American journal of neuroradiology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 52 citations in OpenAlex.
- Proteo-Metabolomic Profiling of PMM2-CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo-Inositol, and the Hexosamine Pathway.Journal of inherited metabolic disease · 2026Article
- Prenatal diagnosis of infratentorial anomalies: ultrasound, fetal MRI, and implications for counseling.Pediatric radiology · 2026Review
- Lipo-Glc-1,6-PIUBMB life · 2026Article
- Are there any differences between adult-onset cerebellitis and childhood cerebellitis?Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Neuroimaging in Children With Inherited Metabolic Epilepsies.Neurology · 2025Review
- Pontocerebellar hypoplasia: a review from 1912 to 2022.Brain communications · 2025Review
- [Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Review
- Neurological Consequences of Congenital Disorders of Glycosylation.Advances in neurobiology · 2023Article
- MR Neuroimaging in Pediatric Inborn Errors of Metabolism.Diagnostics (Basel, Switzerland) · 2022Review
- Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).Cerebellum (London, England) · 2021Article
- Diagnostic Approach to Cerebellar Hypoplasia.Cerebellum (London, England) · 2021Review
- A Proposed Clinical Classification and a Diagnostic Approach for Congenital Ataxias.Neurology. Clinical practice · 2021Review
- Typical MRI features of PLA2G6 mutation-related phospholipase-associated neurodegeneration (PLAN)/infantile neuroaxonal dystrophy (INAD).BMJ case reports · 2021Article
- Congenital Disorders of Glycosylation from a Neurological Perspective.Brain sciences · 2021Review
- Pontocerebellar Hypoplasia: a Pattern Recognition Approach.Cerebellum (London, England) · 2020Article
- Neuroradiological findings in three cases of pontocerebellar hypoplasia type 9 due toQuantitative imaging in medicine and surgery · 2019Article
- What's new in pontocerebellar hypoplasia? An update on genes and subtypes.Orphanet journal of rare diseases · 2018Review
- Neurometabolic disorders and congenital malformations of the central nervous system.Neurosciences (Riyadh, Saudi Arabia) · 2018Review
- Cerebellar atrophy with T2/FLAIR hyperintense cerebellar cortex: a new imaging phenotype of combined complex II/III deficiency.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2018Article
- Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.International journal of molecular sciences · 2018Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
summaryCDG-1a is an early-onset neurodegenerative disease with selective hindbrain involvement and highly variable clinical presentation. We retrospectively reviewed the clinical records and MR imaging studies of 5 children (3 boys and 2 girls aged 12 days to 2 years at presentation) with molecularly confirmed CDG-1a. The cerebellum was hypoplastic at presentation in 4 cases, progressive bulk loss involved the cerebellum and the pons in all cases, and the cerebellar cortex and subcortical white matter were hyperintense on T2-weighted and FLAIR images in all. We conclude that CDG-1a likely results from a combination of cerebellar hypoplasia and atrophy. Cerebellar volume loss with diffuse T2/FLAIR hyperintensity seems to be a peculiar association in the field of cerebellar atrophies, and may be useful to address the differential diagnosis.
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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.