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 language | English |
|---|---|
| Pages (from-to) | 863-866 |
| Number of pages | 4 |
| Journal | Journal of Child Neurology |
| Volume | 28 |
| Issue number | 7 |
| DOIs | |
| Publication status | Published - Jul 2013 |
Fingerprint
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 journal › Article
}
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 -