Lack of SLC2A1 (Glucose Transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood

Elisa De Grandis, Michela Stagnaro, Roberta Biancheri, Melania Giannotta, Giuseppe Gobbi, Monica Traverso, Edvige Veneselli, Federico Zara

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Alternating hemiplegia of childhood is a rare, predominantly sporadic disorder. Diagnosis is clinical, and little is known about genetics. Glucose transporter 1 deficiency syndrome shares with alternating hemiplegia of childhood paroxysmal and nonparoxysmal symptoms. The aim of the study was to investigate glucose transporter 1 mutations in 30 Italian patients. Genetic material was analyzed by DNA amplification and glucose transporter 1 region sequencing. Mutational analysis findings of the SLC2A1 gene were negative in all patients. The pattern of movement disorders was reviewed. Interictal dystonia and multiple paroxysmal events were typical of alternating hemiplegia of childhood. In conclusion, alternating hemiplegia of childhood is a heterogeneous clinical condition, and although glucose transporter 1 deficiency can represent an undiagnosed cause of this disorder, mutational analysis is not routinely recommended. Alternatively, a careful clinical analysis and the 3-O-methyl-D-glucose uptake test can allow prompt identification of a subgroup of patients with alternating hemiplegia of childhood treatable with a ketogenic diet.

Original languageEnglish
Pages (from-to)863-866
Number of pages4
JournalJournal of Child Neurology
Volume28
Issue number7
DOIs
Publication statusPublished - Jul 2013

Fingerprint

Facilitative Glucose Transport Proteins
Mutation
Ketogenic Diet
3-O-Methylglucose
Dystonia
Movement Disorders
Genes
Alternating hemiplegia of childhood
DNA

Keywords

  • alternating hemiplegia
  • glucose transporter 1
  • movement disorders
  • paroxysmal

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

Cite this

Lack of SLC2A1 (Glucose Transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood. / De Grandis, Elisa; Stagnaro, Michela; Biancheri, Roberta; Giannotta, Melania; Gobbi, Giuseppe; Traverso, Monica; Veneselli, Edvige; Zara, Federico.

In: Journal of Child Neurology, Vol. 28, No. 7, 07.2013, p. 863-866.

Research output: Contribution to journalArticle

@article{d2d98cec99654ee5ba242f9ff7da0c52,
title = "Lack of SLC2A1 (Glucose Transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood",
abstract = "Alternating hemiplegia of childhood is a rare, predominantly sporadic disorder. Diagnosis is clinical, and little is known about genetics. Glucose transporter 1 deficiency syndrome shares with alternating hemiplegia of childhood paroxysmal and nonparoxysmal symptoms. The aim of the study was to investigate glucose transporter 1 mutations in 30 Italian patients. Genetic material was analyzed by DNA amplification and glucose transporter 1 region sequencing. Mutational analysis findings of the SLC2A1 gene were negative in all patients. The pattern of movement disorders was reviewed. Interictal dystonia and multiple paroxysmal events were typical of alternating hemiplegia of childhood. In conclusion, alternating hemiplegia of childhood is a heterogeneous clinical condition, and although glucose transporter 1 deficiency can represent an undiagnosed cause of this disorder, mutational analysis is not routinely recommended. Alternatively, a careful clinical analysis and the 3-O-methyl-D-glucose uptake test can allow prompt identification of a subgroup of patients with alternating hemiplegia of childhood treatable with a ketogenic diet.",
keywords = "alternating hemiplegia, glucose transporter 1, movement disorders, paroxysmal",
author = "{De Grandis}, Elisa and Michela Stagnaro and Roberta Biancheri and Melania Giannotta and Giuseppe Gobbi and Monica Traverso and Edvige Veneselli and Federico Zara",
year = "2013",
month = "7",
doi = "10.1177/0883073812452789",
language = "English",
volume = "28",
pages = "863--866",
journal = "Journal of Child Neurology",
issn = "0883-0738",
publisher = "SAGE Publications Inc.",
number = "7",

}

TY - JOUR

T1 - Lack of SLC2A1 (Glucose Transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood

AU - De Grandis, Elisa

AU - Stagnaro, Michela

AU - Biancheri, Roberta

AU - Giannotta, Melania

AU - Gobbi, Giuseppe

AU - Traverso, Monica

AU - Veneselli, Edvige

AU - Zara, Federico

PY - 2013/7

Y1 - 2013/7

N2 - Alternating hemiplegia of childhood is a rare, predominantly sporadic disorder. Diagnosis is clinical, and little is known about genetics. Glucose transporter 1 deficiency syndrome shares with alternating hemiplegia of childhood paroxysmal and nonparoxysmal symptoms. The aim of the study was to investigate glucose transporter 1 mutations in 30 Italian patients. Genetic material was analyzed by DNA amplification and glucose transporter 1 region sequencing. Mutational analysis findings of the SLC2A1 gene were negative in all patients. The pattern of movement disorders was reviewed. Interictal dystonia and multiple paroxysmal events were typical of alternating hemiplegia of childhood. In conclusion, alternating hemiplegia of childhood is a heterogeneous clinical condition, and although glucose transporter 1 deficiency can represent an undiagnosed cause of this disorder, mutational analysis is not routinely recommended. Alternatively, a careful clinical analysis and the 3-O-methyl-D-glucose uptake test can allow prompt identification of a subgroup of patients with alternating hemiplegia of childhood treatable with a ketogenic diet.

AB - Alternating hemiplegia of childhood is a rare, predominantly sporadic disorder. Diagnosis is clinical, and little is known about genetics. Glucose transporter 1 deficiency syndrome shares with alternating hemiplegia of childhood paroxysmal and nonparoxysmal symptoms. The aim of the study was to investigate glucose transporter 1 mutations in 30 Italian patients. Genetic material was analyzed by DNA amplification and glucose transporter 1 region sequencing. Mutational analysis findings of the SLC2A1 gene were negative in all patients. The pattern of movement disorders was reviewed. Interictal dystonia and multiple paroxysmal events were typical of alternating hemiplegia of childhood. In conclusion, alternating hemiplegia of childhood is a heterogeneous clinical condition, and although glucose transporter 1 deficiency can represent an undiagnosed cause of this disorder, mutational analysis is not routinely recommended. Alternatively, a careful clinical analysis and the 3-O-methyl-D-glucose uptake test can allow prompt identification of a subgroup of patients with alternating hemiplegia of childhood treatable with a ketogenic diet.

KW - alternating hemiplegia

KW - glucose transporter 1

KW - movement disorders

KW - paroxysmal

UR - http://www.scopus.com/inward/record.url?scp=84879364404&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84879364404&partnerID=8YFLogxK

U2 - 10.1177/0883073812452789

DO - 10.1177/0883073812452789

M3 - Article

C2 - 22899793

AN - SCOPUS:84879364404

VL - 28

SP - 863

EP - 866

JO - Journal of Child Neurology

JF - Journal of Child Neurology

SN - 0883-0738

IS - 7

ER -