4.4 Article

The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Clinical Neurology

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study

Nour Elkhateeb et al.

Summary: This study aims to characterize epilepsy in argininosuccinic aciduria and correlate it with clinical, biochemical, radiological, and electroencephalographic data. It found that epilepsy is frequent and polymorphic in argininosuccinic aciduria, and is associated with neurodevelopmental comorbidities. Prognostic factors for pharmacoresistance in epilepsy were also identified.

EPILEPSIA (2023)

Article Radiology, Nuclear Medicine & Medical Imaging

Quantitative [123]I-Ioflupane DaTSCAN single-photon computed tomography-computed tomography in Parkinsonism

Elena Missir et al.

Summary: This study aimed to develop a novel method to quantify the uptake of dopamine transporter (DAT) and serotonin transporter (SERT) in different brain regions and improve image quality. A prospective study was conducted using SPECT-CT technology in patients with Parkinsonism. The results showed that SPECT-CT provided more accurate quantification, improved image quality, and enabled absolute quantification of extra-striatal regions.

NUCLEAR MEDICINE COMMUNICATIONS (2023)

Article Medicine, Research & Experimental

Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide-mediated dysregulation of claudin expression

Jordan Kho et al.

Summary: Nitric oxide (NO) is a critical signaling molecule implicated in neurocognitive diseases. Excessive and insufficient NO production have both been linked to pathology. This study investigates the effects of NO on brain endothelial cells and the blood-brain barrier using a model of NO deficiency. The results suggest that ASL-mediated NO synthesis is necessary for maintaining brain microvascular endothelial cell functions and BBB integrity.

JCI INSIGHT (2023)

Article Endocrinology & Metabolism

Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism: An overview on European data

Femke Molema et al.

Summary: The study provided a general overview of liver and/or kidney transplantation in AOA patients in Europe, with posttransplant survival rates ranging from 78% to 100% and the highest risk of mortality within 14 days posttransplantation. Neurological complications were mainly reported in specific types of MMA patients, while nonneurological complications were more common in MMA, PA, and UCD patients, with virtually no occurrences in MSUD patients.

JOURNAL OF INHERITED METABOLIC DISEASE (2021)

Article Endocrinology & Metabolism

Biomarkers for liver disease in urea cycle disorders

Sandesh C. S. Nagamani et al.

Summary: This study evaluated the utility of non-invasive biomarkers for liver fibrosis in UCDs, finding a high burden of liver disease in participants with abnormalities in ultrasound patterns and increased liver stiffness. Serum biomarker analysis revealed elevated FibroTestTM scores in 32% and increased ActiTestTM scores in 25% of participants. Liver stiffness did not correlate with ultrasound appearance or FibroTestTM scores. Further studies are needed to explore new tools for identifying and monitoring UCD individuals at risk for liver disease.

MOLECULAR GENETICS AND METABOLISM (2021)

Review Clinical Neurology

Review of Multi-Modal Imaging in Urea Cycle Disorders: The Old, the New, the Borrowed, and the Blue

Kuntal Sen et al.

Summary: The urea cycle disorders (UCD) are rare genetic disorders resulting from deficiencies in enzymes or proteins that remove waste nitrogen from the body. This review focuses on neuroimaging studies in two types of UCD, highlighting the cognitive and neurobehavioral impacts, especially on executive function and working memory. Clinical management aims at neuroprotection from hyperammonemia and other metabolites, with a major challenge and research focus on preventing neurological injury. Neuroimaging modalities, particularly multimodal imaging platforms, provide valuable information for understanding neurocognitive function and biomarkers, improving clinical decision-making and therapeutic interventions.

FRONTIERS IN NEUROLOGY (2021)

Article Neurosciences

Multi-Electrode Array Analysis Identifies Complex Dopamine Responses and Glucose Sensing Properties of Substantia Nigra Neurons in Mouse Brain Slices

Nadja Mannal et al.

Summary: This study identified two distinct types of dopamine-inhibited and dopamine-excited neurons in the substantia nigra, with complex regulations by dopamine and glucose within physiological brain glucose levels. Excitement of SN DA neurons by glucose was observed, with an EC50 range of 0.35 to 2.3 mM, highlighting a novel subtype of dopamine-excited neurons and the joint regulation by dopamine and glucose.

FRONTIERS IN SYNAPTIC NEUROSCIENCE (2021)

Article Multidisciplinary Sciences

Impact of mRNA chemistry and manufacturing process on innate immune activation

Jennifer Nelson et al.

SCIENCE ADVANCES (2020)

Article Medicine, Research & Experimental

Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency

Lindsay C. Burrage et al.

JCI INSIGHT (2020)

Article Endocrinology & Metabolism

Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects

Julien Baruteau et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2019)

Article Endocrinology & Metabolism

Neuropsychological attributes of urea cycle disorders: A systematic review of the literature

Susan E. Waisbren et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2019)

Review Cell Biology

Molecular Imaging of the Dopamine Transporter

Giovanni Palermo et al.

Article Genetics & Heredity

Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension

Jordan Kho et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2018)

Review Genetics & Heredity

Argininosuccinic aciduria: from a monogenic to a complex disorder

Ayelet Erez

GENETICS IN MEDICINE (2013)

Article Medicine, General & Internal

Magnetic resonance imaging findings and neurodevelopmental outcomes in neonates with urea-cycle defects

Anna Catherine Gunz et al.

INTERNATIONAL MEDICAL CASE REPORTS JOURNAL (2013)

Article Clinical Neurology

Diffusion-Weighted Imaging in Acute Hyperammonemic Encephalopathy

Michael Rosario et al.

NEUROHOSPITALIST (2013)

Article Genetics & Heredity

Nitric-Oxide Supplementation for Treatment of Long-Term Complications in Argininosuccinic Aciduria

Sandesh C. S. Nagamani et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Review Genetics & Heredity

Argininosuccinate lyase deficiency

Sandesh C. S. Nagamani et al.

GENETICS IN MEDICINE (2012)

Review Endocrinology & Metabolism

Optimizing therapy for argininosuccinic aciduria

Sandesh C. S. Nagamani et al.

MOLECULAR GENETICS AND METABOLISM (2012)

Article Genetics & Heredity

Argininosuccinate Lyase Deficiency-Argininosuccinic Aciduria and Beyond

Ayelet Erez et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2011)

Article Biochemistry & Molecular Biology

Requirement of argininosuccinate lyase for systemic nitric oxide production

Ayelet Erez et al.

NATURE MEDICINE (2011)

Article Endocrinology & Metabolism

Systemic hypertension in two patients with ASL deficiency: A result of nitric oxide deficiency?

Nicola Brunetti-Pierri et al.

MOLECULAR GENETICS AND METABOLISM (2009)

Article Endocrinology & Metabolism

Cognitive outcome in urea cycle disorders

AL Gropman et al.

MOLECULAR GENETICS AND METABOLISM (2004)