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Glucose transporter‐1 deficiency syndrome with extreme phenotypic variability in a five‐generation family carrying a novel SLC2A1 variant.

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Title: Glucose transporter‐1 deficiency syndrome with extreme phenotypic variability in a five‐generation family carrying a novel SLC2A1 variant.
Authors: Giugno, Alessia (AUTHOR), Falcone, Elena (AUTHOR), Fortunato, Francesco (AUTHOR), Sammarra, Ilaria (AUTHOR), Procopio, Radha (AUTHOR), Gagliardi, Monica (AUTHOR), Bauleo, Alessia (AUTHOR), de Stefano, Laura (AUTHOR), Martino, Iolanda (AUTHOR), Gambardella, Antonio (AUTHOR)
Source: European Journal of Neurology. Aug2024, Vol. 31 Issue 8, p1-6. 6p.
Subjects: Phenotypic plasticity, Hippocampal sclerosis, Disabilities, Genetic variation, Neurological disorders
Abstract: Background and purpose: Glucose transporter‐1 (GLUT1) deficiency syndrome (GLUT1‐DS) is a metabolic disorder due to reduced expression of GLUT1, a glucose transporter of the central nervous system. GLUT1‐DS is caused by heterozygous SLC2A1 variants that mostly arise de novo. Here, we report a large family with heterogeneous phenotypes related to a novel SLC2A1 variant. Methods: We present clinical and genetic features of a five‐generation family with GLUT1‐DS. Results: The 14 (nine living) affected members had heterogeneous phenotypes, including seizures (11/14), behavioral disturbances (5/14), mild intellectual disability (3/14), and/or gait disabilities (2/14). Brain magnetic resonance imaging revealed hippocampal sclerosis in the 8‐year‐old proband, who also had drug‐responsive absences associated with attention‐deficit/hyperactivity disorder. His 52‐year‐old father, who had focal epilepsy since childhood, developed paraparesis related to a reversible myelitis associated with hypoglycorrhachia. Molecular study detected a novel heterozygous missense variant (c.446C>T) in exon 4 of SLC2A1 (NM: 006516.2) that cosegregated with the illness. This variant causes an amino acid replacement (p.Pro149Leu) at the fourth transmembrane segment of GLUT1, an important domain located at its catalytic core. Conclusions: Our study illustrates the extremely heterogenous phenotypes in familial GLUT1‐DS, ranging from milder classic phenotypes to more subtle neurological disorder including paraparesis. This novel SLC2A1 variant (c.446C>T) provides new insight into the pathophysiology of GLUT1‐DS. [ABSTRACT FROM AUTHOR]
Copyright of European Journal of Neurology is the property of Wiley-Blackwell 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: Glucose transporter‐1 deficiency syndrome with extreme phenotypic variability in a five‐generation family carrying a novel SLC2A1 variant.
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  Data: <searchLink fieldCode="AR" term="%22Giugno%2C+Alessia%22">Giugno, Alessia</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Falcone%2C+Elena%22">Falcone, Elena</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Fortunato%2C+Francesco%22">Fortunato, Francesco</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sammarra%2C+Ilaria%22">Sammarra, Ilaria</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Procopio%2C+Radha%22">Procopio, Radha</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gagliardi%2C+Monica%22">Gagliardi, Monica</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bauleo%2C+Alessia%22">Bauleo, Alessia</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22de+Stefano%2C+Laura%22">de Stefano, Laura</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Martino%2C+Iolanda%22">Martino, Iolanda</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gambardella%2C+Antonio%22">Gambardella, Antonio</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Neurology%22">European Journal of Neurology</searchLink>. Aug2024, Vol. 31 Issue 8, p1-6. 6p.
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  Data: <searchLink fieldCode="DE" term="%22Phenotypic+plasticity%22">Phenotypic plasticity</searchLink><br /><searchLink fieldCode="DE" term="%22Hippocampal+sclerosis%22">Hippocampal sclerosis</searchLink><br /><searchLink fieldCode="DE" term="%22Disabilities%22">Disabilities</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+variation%22">Genetic variation</searchLink><br /><searchLink fieldCode="DE" term="%22Neurological+disorders%22">Neurological disorders</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Background and purpose: Glucose transporter‐1 (GLUT1) deficiency syndrome (GLUT1‐DS) is a metabolic disorder due to reduced expression of GLUT1, a glucose transporter of the central nervous system. GLUT1‐DS is caused by heterozygous SLC2A1 variants that mostly arise de novo. Here, we report a large family with heterogeneous phenotypes related to a novel SLC2A1 variant. Methods: We present clinical and genetic features of a five‐generation family with GLUT1‐DS. Results: The 14 (nine living) affected members had heterogeneous phenotypes, including seizures (11/14), behavioral disturbances (5/14), mild intellectual disability (3/14), and/or gait disabilities (2/14). Brain magnetic resonance imaging revealed hippocampal sclerosis in the 8‐year‐old proband, who also had drug‐responsive absences associated with attention‐deficit/hyperactivity disorder. His 52‐year‐old father, who had focal epilepsy since childhood, developed paraparesis related to a reversible myelitis associated with hypoglycorrhachia. Molecular study detected a novel heterozygous missense variant (c.446C>T) in exon 4 of SLC2A1 (NM: 006516.2) that cosegregated with the illness. This variant causes an amino acid replacement (p.Pro149Leu) at the fourth transmembrane segment of GLUT1, an important domain located at its catalytic core. Conclusions: Our study illustrates the extremely heterogenous phenotypes in familial GLUT1‐DS, ranging from milder classic phenotypes to more subtle neurological disorder including paraparesis. This novel SLC2A1 variant (c.446C>T) provides new insight into the pathophysiology of GLUT1‐DS. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
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  Data: <i>Copyright of European Journal of Neurology is the property of Wiley-Blackwell 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: Aug2024
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