Inherited Neurometabolic Disorders represent a complex group of hereditary metabolic diseases which originates neurological symptoms and signs as a main clinical manifestation. This expanding group of inherited disorders discloses several challenges in clinical practice, mainly regarding atypical late-onset forms both in chronic and acute presentations. In most clinical and research centers, adult-onset Inherited Neurometabolic Disorders are included in the differential diagnosis of common neurological syndromes only after expensive, complex, and frequently unavailable diagnostic work-up. Early diagnosis is essential for these potentially treatable diseases, thus reducing the risk of severe motor handicap and cognitive compromise and life-threatening acute episodes. Inborn Errors of Metabolism may present with several distinct neurological phenotypes in the adult population, including acute or recurrent encephalopathy, parkinsonism, dystonia, choreoathetosis, myoclonus, progressive myoclonic epilepsy, status epilepticus, cerebellar ataxia, spastic-ataxias, spastic paraparesis, neuropsychiatric disturbances, motor neuron disease, autonomic disorders, axonal and demyelinating neuropathies, metabolic myopathies, sensorineural deafness, and neuro-ophthalmological disturbances.
There is currently a lot of new publications and knowledge in the literature regarding Adult Inherited Neurometabolic Disorders, which is quite difficult to be accessed frequently to keep clinicians updated to differential diagnosis, diagnostic approaches, and even new therapeutic purposes. The main goal of this Research Topic is to provide clinicians the possibility to access ultra high quality content, written by the most important researchers in the field, and with special focus on topics which are necessary in the clinician’s daily practices. Access to high quality manuscripts will bring readers the possibility of organizing their ideas about pathophysiological mechanisms, diagnostic work-up, clinical presentation, and management both in chronic and acute settings. This is a pioneer approach in current medical literature.
The main themes which will be considered in the scope of this Research Topic include:
- Diagnostic approaches and differential diagnosis in acute and chronic presentations of Adult Inherited Neurometabolic Disorders, including neuromuscular symptoms and signs;
- Neuroimaging studies;
- NGS-based techniques and WES-based diagnostic work-up for Adult Inherited Neurometabolic Disorders;
- Diagnostic approach and management of emergency presentations of Adult Inherited Neurometabolic Disorders;
- Pathophysiological mechanisms and biomarkers involved with Adult Neurometabolic Diseases;
- Groups of adult-onset neurological syndromes associated with Inherited Neurometabolic disorders (Movement Disorders, Leukodystrophies, Neuromuscular Diseases, Epilepsy, Stroke, Headache, Neuropsychiatric disturbances, Dementia);
- Late-onset mitochondrial encephalomyopathies;
- Inherited Neurometabolic Disorders and Neurocritical Care.
This Research Topic welcomes mainly Review, Mini Review, Original Research, Protocols, and Case Reports.
Inherited Neurometabolic Disorders represent a complex group of hereditary metabolic diseases which originates neurological symptoms and signs as a main clinical manifestation. This expanding group of inherited disorders discloses several challenges in clinical practice, mainly regarding atypical late-onset forms both in chronic and acute presentations. In most clinical and research centers, adult-onset Inherited Neurometabolic Disorders are included in the differential diagnosis of common neurological syndromes only after expensive, complex, and frequently unavailable diagnostic work-up. Early diagnosis is essential for these potentially treatable diseases, thus reducing the risk of severe motor handicap and cognitive compromise and life-threatening acute episodes. Inborn Errors of Metabolism may present with several distinct neurological phenotypes in the adult population, including acute or recurrent encephalopathy, parkinsonism, dystonia, choreoathetosis, myoclonus, progressive myoclonic epilepsy, status epilepticus, cerebellar ataxia, spastic-ataxias, spastic paraparesis, neuropsychiatric disturbances, motor neuron disease, autonomic disorders, axonal and demyelinating neuropathies, metabolic myopathies, sensorineural deafness, and neuro-ophthalmological disturbances.
There is currently a lot of new publications and knowledge in the literature regarding Adult Inherited Neurometabolic Disorders, which is quite difficult to be accessed frequently to keep clinicians updated to differential diagnosis, diagnostic approaches, and even new therapeutic purposes. The main goal of this Research Topic is to provide clinicians the possibility to access ultra high quality content, written by the most important researchers in the field, and with special focus on topics which are necessary in the clinician’s daily practices. Access to high quality manuscripts will bring readers the possibility of organizing their ideas about pathophysiological mechanisms, diagnostic work-up, clinical presentation, and management both in chronic and acute settings. This is a pioneer approach in current medical literature.
The main themes which will be considered in the scope of this Research Topic include:
- Diagnostic approaches and differential diagnosis in acute and chronic presentations of Adult Inherited Neurometabolic Disorders, including neuromuscular symptoms and signs;
- Neuroimaging studies;
- NGS-based techniques and WES-based diagnostic work-up for Adult Inherited Neurometabolic Disorders;
- Diagnostic approach and management of emergency presentations of Adult Inherited Neurometabolic Disorders;
- Pathophysiological mechanisms and biomarkers involved with Adult Neurometabolic Diseases;
- Groups of adult-onset neurological syndromes associated with Inherited Neurometabolic disorders (Movement Disorders, Leukodystrophies, Neuromuscular Diseases, Epilepsy, Stroke, Headache, Neuropsychiatric disturbances, Dementia);
- Late-onset mitochondrial encephalomyopathies;
- Inherited Neurometabolic Disorders and Neurocritical Care.
This Research Topic welcomes mainly Review, Mini Review, Original Research, Protocols, and Case Reports.
