Lack of SLC2A1 (glucose transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood.
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.
Child Neuropsychiatry Unit, Department of Neurosciences, Ophthalmology & Genetics, G. Gaslini Institute, University of Genoa, Genoa, Italy. elisadegrandis@yahoo.it
Elisa
E
De Grandis
Michela
M
Stagnaro
Roberta
R
Biancheri
Melania
M
Giannotta
Giuseppe
G
Gobbi
Monica
M
Traverso
Edvige
E
Veneselli
Federico
F
Zara
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D051272:Glucose Transporter Type 1 / Q000235:genetics*; D006429:Hemiplegia / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D009154:Mutation / Q000235:genetics*; D055815:Young Adult
D051272:Glucose Transporter Type 1; C495677:SLC2A1 protein, human