ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy

Roberto D’Angelo, Rita Rinaldi, Valerio Carelli, Elisa Boschetti, Leonardo Caporali, Mariantonietta Capristo, Carlo Casali, Giovanna Cenacchi, Laura Ludovica Gramegna, Raffaele Lodi, Antonio Daniele Pinna, Loris Pironi, Marta Stanzani, Caterina Tonon, Roberto D’Alessandro, Roberto de Giorgio

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Mitochondrial neuro-gastro-intestinal encephalomyopathy (MNGIE) is a rare and unavoidably fatal disease due to mutations in thymidine phosphorylase (TP). Clinically it is characterized by gastrointestinal dysfunction, malnutrition/cachexia and neurological manifestations. MNGIE diagnosis remains a challenge mainly because of the complexity and rarity of the disease. Thus, our purposes were to promote a better knowledge of the disease in Emilia-Romagna region (ERR) by creating an accurate and dedicated network; to establish the minimal prevalence of MNGIE in Italy starting from ERR. Blood TP activity level was used as screening test to direct candidates to complete diagnostic work-up. During the study period of 1 year, only 10/71 units of ERR recruited 14 candidates. Their screening did not show TP activity changes. An Italian patient not resident in ERR was actually proved to have MNGIE. At the end of study in Italy there were nine cases of MNGIE; thus, the Italian prevalence of the disease is ~0.15/1,000,000 as a gross estimation. Our study confirms that MNGIE diagnosis is a difficult process which reflects the rarity of the disease and, as a result, a low level of awareness among specialists and physicians. Having available novel therapeutic options (e.g., allogenic hematopoietic stem cell transplantation and, more recently, liver transplantation) and an easy screening test, an early diagnosis should be sought before tissue damage occurs irreversibly.

Original languageEnglish
Pages (from-to)1149-1151
Number of pages3
JournalNeurological Sciences
Volume37
DOIs
Publication statusPublished - 2016

Fingerprint

Thymidine Phosphorylase
Italy
Cachexia
Hematopoietic Stem Cell Transplantation
Neurologic Manifestations
Malnutrition
Liver Transplantation
Early Diagnosis
Surveys and Questionnaires
Physicians
Mutation
Therapeutics

Keywords

  • Allogenic hematopoietic stem cell transplantation
  • Mitochondrial neuro-gastro-intestinal encephalomyopathy
  • Orthotopic liver transplantation
  • Prevalence

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Dermatology

Cite this

ITA-MNGIE : an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy. / D’Angelo, Roberto; Rinaldi, Rita; Carelli, Valerio; Boschetti, Elisa; Caporali, Leonardo; Capristo, Mariantonietta; Casali, Carlo; Cenacchi, Giovanna; Gramegna, Laura Ludovica; Lodi, Raffaele; Pinna, Antonio Daniele; Pironi, Loris; Stanzani, Marta; Tonon, Caterina; D’Alessandro, Roberto; de Giorgio, Roberto.

In: Neurological Sciences, Vol. 37, 2016, p. 1149-1151.

Research output: Contribution to journalArticle

D’Angelo, R, Rinaldi, R, Carelli, V, Boschetti, E, Caporali, L, Capristo, M, Casali, C, Cenacchi, G, Gramegna, LL, Lodi, R, Pinna, AD, Pironi, L, Stanzani, M, Tonon, C, D’Alessandro, R & de Giorgio, R 2016, 'ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy', Neurological Sciences, vol. 37, pp. 1149-1151. https://doi.org/10.1007/s10072-016-2552-7
D’Angelo, Roberto ; Rinaldi, Rita ; Carelli, Valerio ; Boschetti, Elisa ; Caporali, Leonardo ; Capristo, Mariantonietta ; Casali, Carlo ; Cenacchi, Giovanna ; Gramegna, Laura Ludovica ; Lodi, Raffaele ; Pinna, Antonio Daniele ; Pironi, Loris ; Stanzani, Marta ; Tonon, Caterina ; D’Alessandro, Roberto ; de Giorgio, Roberto. / ITA-MNGIE : an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy. In: Neurological Sciences. 2016 ; Vol. 37. pp. 1149-1151.
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abstract = "Mitochondrial neuro-gastro-intestinal encephalomyopathy (MNGIE) is a rare and unavoidably fatal disease due to mutations in thymidine phosphorylase (TP). Clinically it is characterized by gastrointestinal dysfunction, malnutrition/cachexia and neurological manifestations. MNGIE diagnosis remains a challenge mainly because of the complexity and rarity of the disease. Thus, our purposes were to promote a better knowledge of the disease in Emilia-Romagna region (ERR) by creating an accurate and dedicated network; to establish the minimal prevalence of MNGIE in Italy starting from ERR. Blood TP activity level was used as screening test to direct candidates to complete diagnostic work-up. During the study period of 1 year, only 10/71 units of ERR recruited 14 candidates. Their screening did not show TP activity changes. An Italian patient not resident in ERR was actually proved to have MNGIE. At the end of study in Italy there were nine cases of MNGIE; thus, the Italian prevalence of the disease is ~0.15/1,000,000 as a gross estimation. Our study confirms that MNGIE diagnosis is a difficult process which reflects the rarity of the disease and, as a result, a low level of awareness among specialists and physicians. Having available novel therapeutic options (e.g., allogenic hematopoietic stem cell transplantation and, more recently, liver transplantation) and an easy screening test, an early diagnosis should be sought before tissue damage occurs irreversibly.",
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AU - Boschetti, Elisa

AU - Caporali, Leonardo

AU - Capristo, Mariantonietta

AU - Casali, Carlo

AU - Cenacchi, Giovanna

AU - Gramegna, Laura Ludovica

AU - Lodi, Raffaele

AU - Pinna, Antonio Daniele

AU - Pironi, Loris

AU - Stanzani, Marta

AU - Tonon, Caterina

AU - D’Alessandro, Roberto

AU - de Giorgio, Roberto

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N2 - Mitochondrial neuro-gastro-intestinal encephalomyopathy (MNGIE) is a rare and unavoidably fatal disease due to mutations in thymidine phosphorylase (TP). Clinically it is characterized by gastrointestinal dysfunction, malnutrition/cachexia and neurological manifestations. MNGIE diagnosis remains a challenge mainly because of the complexity and rarity of the disease. Thus, our purposes were to promote a better knowledge of the disease in Emilia-Romagna region (ERR) by creating an accurate and dedicated network; to establish the minimal prevalence of MNGIE in Italy starting from ERR. Blood TP activity level was used as screening test to direct candidates to complete diagnostic work-up. During the study period of 1 year, only 10/71 units of ERR recruited 14 candidates. Their screening did not show TP activity changes. An Italian patient not resident in ERR was actually proved to have MNGIE. At the end of study in Italy there were nine cases of MNGIE; thus, the Italian prevalence of the disease is ~0.15/1,000,000 as a gross estimation. Our study confirms that MNGIE diagnosis is a difficult process which reflects the rarity of the disease and, as a result, a low level of awareness among specialists and physicians. Having available novel therapeutic options (e.g., allogenic hematopoietic stem cell transplantation and, more recently, liver transplantation) and an easy screening test, an early diagnosis should be sought before tissue damage occurs irreversibly.

AB - Mitochondrial neuro-gastro-intestinal encephalomyopathy (MNGIE) is a rare and unavoidably fatal disease due to mutations in thymidine phosphorylase (TP). Clinically it is characterized by gastrointestinal dysfunction, malnutrition/cachexia and neurological manifestations. MNGIE diagnosis remains a challenge mainly because of the complexity and rarity of the disease. Thus, our purposes were to promote a better knowledge of the disease in Emilia-Romagna region (ERR) by creating an accurate and dedicated network; to establish the minimal prevalence of MNGIE in Italy starting from ERR. Blood TP activity level was used as screening test to direct candidates to complete diagnostic work-up. During the study period of 1 year, only 10/71 units of ERR recruited 14 candidates. Their screening did not show TP activity changes. An Italian patient not resident in ERR was actually proved to have MNGIE. At the end of study in Italy there were nine cases of MNGIE; thus, the Italian prevalence of the disease is ~0.15/1,000,000 as a gross estimation. Our study confirms that MNGIE diagnosis is a difficult process which reflects the rarity of the disease and, as a result, a low level of awareness among specialists and physicians. Having available novel therapeutic options (e.g., allogenic hematopoietic stem cell transplantation and, more recently, liver transplantation) and an easy screening test, an early diagnosis should be sought before tissue damage occurs irreversibly.

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