Mitochondrial neurogastrointestinal encephalopathy is a rare disorder due to recessive mutations in thethymidine phosphorylasegene, encoding thymidine phosphorylase protein required for mitochondrial DNA replication. Clinical manifestations include gastrointestinal dysmotility and diffuse asymptomatic leukoencephalopathy. This study aimed to elucidate the mechanisms underlying brain leukoencephalopathy in patients with mitochondrial neurogastrointestinal encephalopathy by correlating multimodal neuroradiologic features to postmortem pathology.

Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy / Gramegna, L L; Pisano, A; Testa, C; Manners, David N; D'Angelo, R; Boschetti, E; Giancola, F; Pironi, L; Caporali, L; Capristo, M; Valentino, Maria Lucia; Plazzi, G; Casali, C; Dotti, M T; Cenacchi, G; Hirano, M; Giordano, C; Parchi, P; Rinaldi, R; De Giorgio, R; Lodi, R; Carelli, V; Tonon, C. - In: AJNR, AMERICAN JOURNAL OF NEURORADIOLOGY. - ISSN 0195-6108. - n.a.:(2018), pp. N/A-N/A.. [10.3174/ajnr.A5507]

Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy

Caporali, L;Plazzi, G;
2018

Abstract

Mitochondrial neurogastrointestinal encephalopathy is a rare disorder due to recessive mutations in thethymidine phosphorylasegene, encoding thymidine phosphorylase protein required for mitochondrial DNA replication. Clinical manifestations include gastrointestinal dysmotility and diffuse asymptomatic leukoencephalopathy. This study aimed to elucidate the mechanisms underlying brain leukoencephalopathy in patients with mitochondrial neurogastrointestinal encephalopathy by correlating multimodal neuroradiologic features to postmortem pathology.
2018
18-gen-2018
n.a.
N/A
N/A.
Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy / Gramegna, L L; Pisano, A; Testa, C; Manners, David N; D'Angelo, R; Boschetti, E; Giancola, F; Pironi, L; Caporali, L; Capristo, M; Valentino, Maria Lucia; Plazzi, G; Casali, C; Dotti, M T; Cenacchi, G; Hirano, M; Giordano, C; Parchi, P; Rinaldi, R; De Giorgio, R; Lodi, R; Carelli, V; Tonon, C. - In: AJNR, AMERICAN JOURNAL OF NEURORADIOLOGY. - ISSN 0195-6108. - n.a.:(2018), pp. N/A-N/A.. [10.3174/ajnr.A5507]
Gramegna, L L; Pisano, A; Testa, C; Manners, David N; D'Angelo, R; Boschetti, E; Giancola, F; Pironi, L; Caporali, L; Capristo, M; Valentino, Maria Lucia; Plazzi, G; Casali, C; Dotti, M T; Cenacchi, G; Hirano, M; Giordano, C; Parchi, P; Rinaldi, R; De Giorgio, R; Lodi, R; Carelli, V; Tonon, C
File in questo prodotto:
File Dimensione Formato  
427.full.pdf

Open access

Tipologia: Versione pubblicata dall'editore
Dimensione 1.76 MB
Formato Adobe PDF
1.76 MB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

Licenza Creative Commons
I metadati presenti in IRIS UNIMORE sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono rilasciati con licenza Attribuzione 4.0 Internazionale (CC BY 4.0), salvo diversa indicazione.
In caso di violazione di copyright, contattare Supporto Iris

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/1205774
Citazioni
  • ???jsp.display-item.citation.pmc??? 13
  • Scopus 17
  • ???jsp.display-item.citation.isi??? 16
social impact