ArticlePloS one2015
Eight-Year Follow-Up of Neuropsychiatric Symptoms and Brain Structural Changes in Fabry Disease.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- Neuropsychiatric Symptoms and Their Association With Sex, Age, and Enzyme Replacement Therapy in Fabry Disease: A Systematic Review.Frontiers in psychiatry · 2022Pooled it
- NovelJournal of clinical medicine · 2026Review
- Prevalence and Clinical Correlates of Cerebrovascular Alterations in Fabry Disease: A Cross-Sectional Study.Brain sciences · 2025Article
- Clinical and Pathophysiologic Correlates of Basilar Artery Measurements in Fabry Disease.AJNR. American journal of neuroradiology · 2024Article
- Review
- Anderson-Fabry Disease: A New Piece of the Lysosomal Puzzle in Parkinson Disease?Biomedicines · 2022Review
- Survey about the Quality of Life of Italian Patients with Fabry Disease.Diseases (Basel, Switzerland) · 2021Article
- Attention Deficits and ADHD Symptoms in Adults with Fabry Disease-A Pilot Investigation.Journal of clinical medicine · 2021Article
- Left to themselves: Time to target chronic pain in childhood rare diseases.Neuroscience and biobehavioral reviews · 2021Review
- Characteristics of Neurological Symptoms in Adult Japanese Patients with Fabry Disease.Internal medicine (Tokyo, Japan) · 2021Article
- Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy.Molecular genetics and metabolism reports · 2021Article
- Fabry disease: GLA deletion alters a canonical splice site in a family with neuropsychiatric manifestations.Metabolic brain disease · 2021Article
- Cognitive functioning and depressive symptoms in Fabry disease: A follow-up study.Journal of inherited metabolic disease · 2020Article
- Depression, sleep disturbances, pain, disability and quality of LIFE in Brazilian Fabry disease patients.Molecular genetics and metabolism reports · 2020Article
- The Mini Mental State Examination does not accurately screen for objective cognitive impairment in Fabry Disease.JIMD reports · 2019Article
- Clinical practice guideline for cognitive impairment of cerebral small vessel disease.Aging medicine (Milton (N.S.W)) · 2019Article
- Neuroimaging in Fabry disease: current knowledge and future directions.Insights into imaging · 2018Review
- Reduced Intracranial Volume in Fabry Disease: Evidence of Abnormal Neurodevelopment?Frontiers in neurology · 2018Article
- Altered Gene Expression in Prefrontal Cortex of a Fabry Disease Mouse Model.Frontiers in molecular neuroscience · 2018Article
- Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study and Review of the Literature.JIMD reports · 2018Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Brain structural alterations and neuropsychiatric symptoms have been described repeatedly in Fabry disease, yet cognitive deficits have been shown to be only mild. Here, we aimed to investigate neuropsychiatric symptoms and brain structure longitudinally. We expected no clinically relevant increase of neuropsychiatric symptoms in parallel to increased brain structural alterations. We assessed 14 Fabry patients (46.1 ± 10.8 years) who had participated in our investigation eight years ago. Patients engaged in neuropsychiatric testing, as well as structural magnetic resonance imaging and angiography to determine white matter lesions, hippocampal volume, and the diameter of the larger intracranial arteries. While Fabry patients did not differ on cognitive performance, they showed progressive and significant hippocampal volume loss over the 8-year observation period. White matter lesions were associated with older age and higher white matter lesion load at baseline, but did not reach statistical significance when comparing baseline to follow-up. Likewise, intracranial artery diameters did not increase significantly. None of the imaging parameters were associated with the neuropsychiatric parameters. Depression frequency reduced from 50% at baseline to 21% at follow-up, but it did not reach significance. This investigation demonstrates clinical stability in cognitive function, while pronounced hippocampal atrophy is apparent throughout the 8 years. Our middle-aged Fabry patients appeared to compensate successfully for progressive hippocampal volume loss. The hippocampal volume decline indicates brain regional neuronal involvement in Fabry disease.
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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.