Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders
Por:
Alfonsi, C, Stephan-Otto, C, Cortes-Saladelafont, E, Palacios, NJ, Podzamczer-Valls, I, Cruz, NG, Jimenez, MRD, Mico, SI, Vila, MT, Jeltsch, K, Hubschmann, OK, Opladen, T, Fragua, RV, Gomez, T, Fortuny, OA, Jimenez, IG, Laso, EL, Martinez, AR, Lopez, JM, Garcia-Cazorla, A
Publicada:
1 nov 2022
Ahead of Print:
1 jun 2022
Resumen:
Purpose Inborn errors of neurotransmitters are rare monogenic diseases. In general, conventional neuroimaging is not useful for diagnosis. Nevertheless, advanced neuroimaging techniques could provide novel diagnosis and prognosis biomarkers. We aim to describe cerebral volumetric findings in a group of Spanish patients with neurotransmitter disorders.
Methods Fifteen 3D T1-weighted brain images from the International Working Group on Neurotransmitter related Disorders Spanish cohort were assessed (eight with monoamine and seven with amino acid disorders). Volumes of cortical and subcortical brain structures were obtained for each patient and then compared with those of two healthy individuals matched by sex and age.
Results Regardless of the underlying disease, patients showed a smaller total cerebral tissue volume, which was apparently associated with clinical severity. A characteristic volumetric deficit pattern, including the right Heschl gyrus and the bilateral occipital gyrus, was identified. In severe cases, a distinctive pattern comprised the middle and posterior portions of the right cingulate, the left superior motor area and the cerebellum. In succinate semialdehyde dehydrogenase deficiency, volumetric affection seems to worsen over life.
Conclusion Despite the heterogeneity and limited size of our cohort, we found novel and relevant data. Total volume deficit appears to be a marker of severity, regardless of the specific neurotransmitter disease and irrespective of the information obtained from conventional neuroimaging. Volumetric assessment of individual brain structures could provide a deeper knowledge about pathophysiology, disease severity and specific clinical traits.
Filiaciones:
Alfonsi, C:
Hosp St Joan de Deu, Inborn Errors Metab Unit, Pediat Neurol Dept, Inst Recerca St Joan de Deu, Passeig St Joan De Deu 2, Barcelona 08950, Spain
Hosp St Joan de Deu, MetabERN, Passeig St Joan De Deu 2, Barcelona 08950, Spain
Sapienza Univ Rome, Dept Human Neurosci, Via Sabelli 108, I-00185 Rome, Italy
Stephan-Otto, C:
Inst Recerca St Joan de Deu, Pg St Joan De Deu 2, Barcelona 08950, Spain
Ctr Invest Biomed Red Salud Mental CIBERSAM, Av Monforte de Lemos 3-5,Pabellon 11 Planta 0, Madrid 28029, Spain
Cortes-Saladelafont, E:
Hosp Badalona Germans Trias & Pujol, Unit Inherited Metab Dis & Neuropediat, Carretera Canyet S-N, Badalona 08916, Spain
Univ Autonoma Barcelona, Plaza Civ, Barcelona 08193, Spain
Palacios, NJ:
Hosp St Joan de Deu, Inborn Errors Metab Unit, Pediat Neurol Dept, Inst Recerca St Joan de Deu, Passeig St Joan De Deu 2, Barcelona 08950, Spain
Hosp St Joan de Deu, MetabERN, Passeig St Joan De Deu 2, Barcelona 08950, Spain
Podzamczer-Valls, I:
Univ Autonoma Barcelona, Plaza Civ, Barcelona 08193, Spain
Hosp Santa Creu & Sant Pau, Carrer St Antoni Maria Claret 167, Barcelona 08025, Spain
Cruz, NG:
Hosp Univ Severo Ochoa, Dept Pediat, Av Orellana S-N, Leganes 28911, Spain
Jimenez, MRD:
Hosp Univ Virgen de La Arrixaca, Dept Pediat Neurol, Ctra Madrid Cartagena S-N, Murcia 30120, Spain
Mico, SI:
Hosp Univ Virgen de La Arrixaca, Dept Pediat Neurol, Ctra Madrid Cartagena S-N, Murcia 30120, Spain
Vila, MT:
Hosp La Fe, Dept Neurol, Avinguda Fernando Abril Martorell 106, Valencia 46026, Spain
Jeltsch, K:
Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Neuenheimer Feld 430, D-69120 Heidelberg, Germany
Hubschmann, OK:
Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Neuenheimer Feld 430, D-69120 Heidelberg, Germany
Opladen, T:
Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Neuenheimer Feld 430, D-69120 Heidelberg, Germany
Fragua, RV:
Hosp La Paz, Dept Pediat Neurol, C Pedro Rico 6, Madrid 28029, Spain
Gomez, T:
Hosp Gen Granollers, Dept Psychiat, Carrer Francesc Ribas S-N, Granollers 08402, Spain
Fortuny, OA:
Hosp Gen Granollers, Dept Psychiat, Carrer Francesc Ribas S-N, Granollers 08402, Spain
Jimenez, IG:
Hosp Univ Miguel Servet, Metab Disorders Unit, P Isabel La Catolica 1-3, Zaragoza 50009, Spain
Laso, EL:
Univ Hosp Reina Sofia, Dept Pediat, Pediat Neurol Unit, IMIBIC, Av Menendez Pidal S-N, Cordoba 14004, Spain
Ctr Invest Biomed Red Enfermedades Raras CIBERER, C Melchor Fernandez Almagro 3, Madrid 28029, Spain
Martinez, AR:
Hosp Parc Tauli, Dept Pediat, Parc Tauli 1, Sabadell 08208, Spain
Lopez, JM:
Hosp St Joan de Deu, Dept Radiol, Pg St Joan De Deu 2, Barcelona 08950, Spain
Garcia-Cazorla, A:
Hosp St Joan de Deu, Inborn Errors Metab Unit, Pediat Neurol Dept, Inst Recerca St Joan de Deu, Passeig St Joan De Deu 2, Barcelona 08950, Spain
Hosp St Joan de Deu, MetabERN, Passeig St Joan De Deu 2, Barcelona 08950, Spain
Ctr Invest Biomed Red Enfermedades Raras CIBERER, C Melchor Fernandez Almagro 3, Madrid 28029, Spain
|