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Genetic causes of acute encephalopathy in adults: beyond inherited metabolic and epileptic disorders.

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Title: Genetic causes of acute encephalopathy in adults: beyond inherited metabolic and epileptic disorders.
Authors: Parissis, Dimitrios (AUTHOR), Dimitriou, Maria (AUTHOR), Ioannidis, Panagiotis (AUTHOR)
Source: Neurological Sciences. Mar2022, Vol. 43 Issue 3, p1617-1626. 10p.
Subjects: Brain diseases, Inborn errors of metabolism, Genetic counseling, Diagnostic errors, Cognition, Genetic variation, Epilepsy, Diagnostic imaging
Abstract: Acute encephalopathy is a widely used term, implying a rapidly progressive multifocal or diffuse brain dysfunction, caused by acute structural disturbance or a myriad of metabolic, toxic, epileptic, or infection-related factors. Apart from the more common acquired causes, a broad range of rare inherited disorders may produce spells of encephalopathy in adulthood, posing diagnostic challenges to clinicians. Among the latter, neurometabolic disorders and epileptic syndromes constitute typical examples. Interestingly, certain genetic entities have the potential to provoke episodic changes of cognition, via alternative, neither metabolic nor epileptic, mechanisms. Our aim is to provide a short and focused overview of their clinicoradiological features and potential pathophysiology. As the neurogenetic landscape is rapidly evolving, it is important to be familiar with these chameleons, in order to provide swift diagnosis and proper genetic counselling. Highlights: • Approaching a patient with episodic impairment of consciousness is one of the most demanding tasks in the field of clinical neurology. • After excluding common and uncommon acquired causes of acute encephalopathy, one should always think of the genetic variants. • Among the latter, encephalopathies of metabolic origin due to enzymatic deficiency or mitochondrial dysfunction are commonly analyzed in the literature. • Certain genetic diseases without evidence of metabolic alteration or epileptic component should also be considered in differential diagnosis, principally in terms of genetic counselling and preventing, or treating disabling attacks. [ABSTRACT FROM AUTHOR]
Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Data: Genetic causes of acute encephalopathy in adults: beyond inherited metabolic and epileptic disorders.
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  Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Mar2022, Vol. 43 Issue 3, p1617-1626. 10p.
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  Data: Acute encephalopathy is a widely used term, implying a rapidly progressive multifocal or diffuse brain dysfunction, caused by acute structural disturbance or a myriad of metabolic, toxic, epileptic, or infection-related factors. Apart from the more common acquired causes, a broad range of rare inherited disorders may produce spells of encephalopathy in adulthood, posing diagnostic challenges to clinicians. Among the latter, neurometabolic disorders and epileptic syndromes constitute typical examples. Interestingly, certain genetic entities have the potential to provoke episodic changes of cognition, via alternative, neither metabolic nor epileptic, mechanisms. Our aim is to provide a short and focused overview of their clinicoradiological features and potential pathophysiology. As the neurogenetic landscape is rapidly evolving, it is important to be familiar with these chameleons, in order to provide swift diagnosis and proper genetic counselling. Highlights: • Approaching a patient with episodic impairment of consciousness is one of the most demanding tasks in the field of clinical neurology. • After excluding common and uncommon acquired causes of acute encephalopathy, one should always think of the genetic variants. • Among the latter, encephalopathies of metabolic origin due to enzymatic deficiency or mitochondrial dysfunction are commonly analyzed in the literature. • Certain genetic diseases without evidence of metabolic alteration or epileptic component should also be considered in differential diagnosis, principally in terms of genetic counselling and preventing, or treating disabling attacks. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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              Text: Mar2022
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