caa a22 4500 445355271 CHVBK 20180317142858.0 cr unu---uuuuu 170323e20110201xx s 000 0 eng 10.1007/s10072-010-0416-0 doi (NATIONALLICENCE)springer-10.1007/s10072-010-0416-0 Clinical, genetic and magnetic resonance findings in an Italian patient affected by l -2-hydroxyglutaric aciduria [Elektronische Daten] [Rosalucia Mazzei, Carmine Ungaro, Girolamo Garreffa, Francesca Conforti, Antonella Mollo, Teresa Sprovieri, Pasquale Servillo, Vincenzo Blasi, Olivier Gallo, Antonio Cerasa, Pier Lanza, Aldo Quattrone] l-2-Hydroxyglutaric aciduria (l-2-HGA) is a neurometabolic disease characterized by the presence of elevated levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine. Clinical features in this inherited condition consist of mental deterioration, ataxia and motor deficits with pyramidal and extrapyramidal symptoms and signs. l-2-HGA is caused by mutations in the l-2-HGDH gene which most probably encodes for a l-2-hydroxyglutarate dehydrogenase, a putative mitochondrial protein converting l-2-hydroxyglutarate to alphaketoglutarate. Here, we report a pathogenic nonsense mutation in the l-2-HGDH gene found for the first time in an Italian patient affected by l-2-HGA, reinforcing the previously described phenotype of this rare metabolic disease and confirming the data indicating that mutations in the l-2-HGDH gene cause l-2-HGA. Springer-Verlag, 2010 l -2-hydroxyglutaric aciduria nationallicence l -2-HGDH gene nationallicence l -2-hydroxyglutaric acid nationallicence Magnetic resonance imaging nationallicence Echo-planar diffusion tensor imaging nationallicence Mazzei Rosalucia Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy aut Ungaro Carmine Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy aut Garreffa Girolamo Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy aut Conforti Francesca Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy aut Mollo Antonella ASP 4, Cosenza, Italy aut Sprovieri Teresa Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy aut Servillo Pasquale Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy aut Blasi Vincenzo Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy aut Gallo Olivier Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy aut Cerasa Antonio Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy aut Lanza Pier Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy aut Quattrone Aldo Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy aut Neurological Sciences Springer Milan 32/1(2011-02-01), 95-99 1590-1874 32:1<95 2011 32 10072 https://doi.org/10.1007/s10072-010-0416-0 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10072-010-0416-0 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Mazzei Rosalucia Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy aut NATIONALLICENCE 700 1- Ungaro Carmine Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy aut NATIONALLICENCE 700 1- Garreffa Girolamo Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy aut NATIONALLICENCE 700 1- Conforti Francesca Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy aut NATIONALLICENCE 700 1- Mollo Antonella ASP 4, Cosenza, Italy aut NATIONALLICENCE 700 1- Sprovieri Teresa Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy aut NATIONALLICENCE 700 1- Servillo Pasquale Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy aut NATIONALLICENCE 700 1- Blasi Vincenzo Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy aut NATIONALLICENCE 700 1- Gallo Olivier Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy aut NATIONALLICENCE 700 1- Cerasa Antonio Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy aut NATIONALLICENCE 700 1- Lanza Pier Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy aut NATIONALLICENCE 700 1- Quattrone Aldo Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy aut NATIONALLICENCE 773 0- Neurological Sciences Springer Milan 32/1(2011-02-01), 95-99 1590-1874 32:1<95 2011 32 10072 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer