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

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 inher...

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Bibliographic Details
Published in:Neurological sciences 2022-03, Vol.43 (3), p.1617-1626
Main Authors: Parissis, Dimitrios, Dimitriou, Maria, Ioannidis, Panagiotis
Format: Article
Language:English
Subjects:
Adult
Brain Diseases - genetics
Cognition
Differential diagnosis
Encephalopathy
Epilepsy
Epileptic Syndromes
Genetic counseling
Genetic disorders
Genetic diversity
Hereditary diseases
Humans
Magnetic Resonance Imaging
Medicine
Medicine & Public Health
Metabolic disorders
Metabolism
Mitochondria
Neurology
Neuroradiology
Neurosciences
Neurosurgery
Psychiatry
Review
Review Article
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Summary: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.
ISSN:1590-1874
1590-3478
DOI:10.1007/s10072-022-05899-y