caa a22 4500 445808632 CHVBK 20180317145204.0 cr unu---uuuuu 170323e20111201xx s 000 0 eng 10.1007/s00415-011-6106-x doi (NATIONALLICENCE)springer-10.1007/s00415-011-6106-x Structural and metabolic damage in brains of patients with SPG11 -related spastic paraplegia as detected by quantitative MRI [Elektronische Daten] [Maria Stromillo, Alessandro Malandrini, Maria Dotti, Marco Battaglini, Federico Borgogni, Alessandra Tessa, Eugenia Storti, Paola Denora, Filippo Santorelli, Carmen Gaudiano, Carla Battisti, Antonio Federico, Nicola De Stefano] The goal of this work was to assess brain structural and metabolic abnormalities of subjects with SPG11 and their relevance to clinical disability by using quantitative magnetic resonance (MR) metrics. Autosomal recessive hereditary spastic paraplegia (AR-HSP) with thin corpus callosum and cognitive decline is a complex neurological disorder caused by mutations in the SPG11 gene in most cases. Little is known about the process leading to corticospinal and white matter degeneration. We performed conventional MRI/MR spectroscopic imaging (1H-MRSI) examinations in 10 HSP patients carrying an SPG11 mutation and in 10 demographically matched healthy controls (HC). We measured in each subject cerebral white matter hyperintensities (WMHs), normalized global and cortical brain volumes, and 1H-MRSI-derived central brain levels of N-acetylaspartate (NAA) and choline (Cho) normalized to creatine (Cr). Clinical disability was assessed according to patients' autonomy in walking. Conventional MRI showed WMHs in all patients. Global brain volumes were lower in patients than in HC (p<0.001). Decreased values were diffusely found also in cortical regions (p<0.01). On 1H-MRSI, NAA/Cr values were lower in SPG11 patients than in HC (p=0.002). Cho/Cr values did not differ between patients and HC. Cerebral volume decreases and NAA/Cr in the corona radiata correlated closely with increasing disability scores (p<0.05). Quantitative MR measures propose that widespread structural and metabolic brain damage occur in SPG11 patients. The correlation of these MR metrics with measures of patients' disease severity suggests that they might represent adequate surrogate markers of disease outcome. Springer-Verlag, 2011 Spastic paraplegia with thin corpus callosum nationallicence SPG11 nationallicence Magnetic resonance nationallicence Spectroscopy nationallicence Axonal damage nationallicence Brain atrophy nationallicence Stromillo Maria Neurology and Neurometabolic Unit, Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy aut Malandrini Alessandro Neurology and Neurometabolic Unit, Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy aut Dotti Maria Neurology and Neurometabolic Unit, Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy aut Battaglini Marco Neurology and Neurometabolic Unit, Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy aut Borgogni Federico Neurology and Neurometabolic Unit, Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy aut Tessa Alessandra Molecular Medicine and Neurogenetics, IRCCS Fondazione Stella Maris, Pisa, Italy aut Storti Eugenia Molecular Medicine and Neurogenetics, IRCCS Fondazione Stella Maris, Pisa, Italy aut Denora Paola IRCCS Bambino Gesù, Rome, Italy aut Santorelli Filippo Molecular Medicine and Neurogenetics, IRCCS Fondazione Stella Maris, Pisa, Italy aut Gaudiano Carmen Neurology and Neurometabolic Unit, Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy aut Battisti Carla Neurology and Neurometabolic Unit, Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy aut Federico Antonio Neurology and Neurometabolic Unit, Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy aut De Stefano Nicola Neurology and Neurometabolic Unit, Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy aut Journal of Neurology Springer-Verlag 258/12(2011-12-01), 2240-2247 0340-5354 258:12<2240 2011 258 415 https://doi.org/10.1007/s00415-011-6106-x text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00415-011-6106-x text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Stromillo Maria Neurology and Neurometabolic Unit, Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy aut NATIONALLICENCE 700 1- Malandrini Alessandro Neurology and Neurometabolic Unit, Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy aut NATIONALLICENCE 700 1- Dotti Maria Neurology and Neurometabolic Unit, Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy aut NATIONALLICENCE 700 1- Battaglini Marco Neurology and Neurometabolic Unit, Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy aut NATIONALLICENCE 700 1- Borgogni Federico Neurology and Neurometabolic Unit, Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy aut NATIONALLICENCE 700 1- Tessa Alessandra Molecular Medicine and Neurogenetics, IRCCS Fondazione Stella Maris, Pisa, Italy aut NATIONALLICENCE 700 1- Storti Eugenia Molecular Medicine and Neurogenetics, IRCCS Fondazione Stella Maris, Pisa, Italy aut NATIONALLICENCE 700 1- Denora Paola IRCCS Bambino Gesù, Rome, Italy aut NATIONALLICENCE 700 1- Santorelli Filippo Molecular Medicine and Neurogenetics, IRCCS Fondazione Stella Maris, Pisa, Italy aut NATIONALLICENCE 700 1- Gaudiano Carmen Neurology and Neurometabolic Unit, Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy aut NATIONALLICENCE 700 1- Battisti Carla Neurology and Neurometabolic Unit, Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy aut NATIONALLICENCE 700 1- Federico Antonio Neurology and Neurometabolic Unit, Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy aut NATIONALLICENCE 700 1- De Stefano Nicola Neurology and Neurometabolic Unit, Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy aut NATIONALLICENCE 773 0- Journal of Neurology Springer-Verlag 258/12(2011-12-01), 2240-2247 0340-5354 258:12<2240 2011 258 415 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer