SynthesisNeuroradiology2007
Decreased T2 signal in the thalami may be a sign of lysosomal storage disease.
Synthesis in Neuroradiology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
41 citing papers in PubMed, 86 citations in OpenAlex.
- Structural and Functional Brain Changes in Children and Adolescents With Obesity.Obesity reviews : an official journal of the International Association for the Study of Obesity · 2025Review
- AAV-delivered PPT1 provides long-term neurological benefits in CLN1 mice and achieves therapeutic levels in sheep brain.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Enzyme Replacement Therapy for CLN2 Disease: MRI Volumetry Shows Significantly Slower Volume Loss Compared with a Natural History Cohort.AJNR. American journal of neuroradiology · 2024Article
- Pediatric onset neuronal ceroid lipofuscinoses: Unraveling clinical and genetic specifications.Pakistan journal of medical sciences · 2024Article
- Topological Structural Brain Connectivity Alterations in Aspartylglucosaminuria: A Case-Control Study.AJNR. American journal of neuroradiology · 2023Article
- Volume mismatch indicates tumors in paramedial bithalamic diseases: a retrospective study.Frontiers in neurology · 2023Article
- Progressive MRI brain volume changes in ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinosis.Brain communications · 2023Article
- A cross-sectional natural history study of aspartylglucosaminuria.JIMD reports · 2022Article
- Infantile Sandhoff disease with ventricular septal defect: a case report.Journal of medical case reports · 2022Article
- Neuroimaging Pearls from the MDS Congress Video Challenge. Part 2: Acquired Disorders.Movement disorders clinical practice · 2022Review
- Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?Journal of cardiovascular development and disease · 2022Review
- Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview.Frontiers in neurology · 2022Review
- Neuronal Ceroid Lipofuscinosis: Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India.Journal of pediatric genetics · 2021Article
- Bilateral lesions of the basal ganglia and thalami (central grey matter)-pictorial review.Neuroradiology · 2020Review
- Associations Between Body Weight, Hippocampal Volume, and Tissue Signal Intensity in 12- to 18-Year-Olds.Obesity (Silver Spring, Md.) · 2020Article
- Topological Alterations of the Structural Brain Connectivity Network in Children with Juvenile Neuronal Ceroid Lipofuscinosis.AJNR. American journal of neuroradiology · 2019Article
- Discovery of a CLN7 model of Batten disease in non-human primates.Neurobiology of disease · 2018Article
- Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations.Orphanet journal of rare diseases · 2018Article
- Global and Widespread Local White Matter Abnormalities in Juvenile Neuronal Ceroid Lipofuscinosis.AJNR. American journal of neuroradiology · 2018Article
- Synergistic effects of treating the spinal cord and brain in CLN1 disease.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionLysosomal disorders are rare and are caused by genetically transmitted lysosomal enzyme deficiencies. A decreased T2 signal in the thalamus has occasionally been reported.
aimsBecause the finding of bilateral abnormal signal intensity of the thalamus on T2-weighted images has not been systematically reviewed, and its value as a diagnostic tool critically evaluated, we carried out a systematic review of the literature.
methodsArticles in English with 30 trios of keywords were collected from PubMed. Exclusion criteria were lack of conventional T2-weighted images in the protocol and not being a human study. Finally, 111 articles were included. The thalamus was considered affected only if mentioned in the text or in the figure legends.
resultsSome 117 patients with various lysosomal diseases and five patients with ceruloplasmin deficiency were reported to have a bilateral decrease in T2 signal intensity. At least one article reported a bilateral decrease in signal intensity of the thalami on T2-weighted images in association with GM1 and GM2 gangliosidosis and with Krabbe's disease, aspartylglucosaminuria, mannosidosis, fucosidosis, and mucolipidosis IV. Furthermore, thalamic alteration was a consistent finding in several types of neuronal ceroid lipofuscinosis (NCL) including CLN1 (infantile NCL), CLN2 (classic late infantile NCL), CLN3 (juvenile NCL), CLN5 (Finnish variant late infantile NCL), and CLN7 (Turkish variant late infantile NCL).
conclusionA decrease in T2 signal intensity in the thalami seems to be a sign of lysosomal disease.
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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.