Retrospective study of a large population of patients affected with mitochondrial disorders

Clinical, morphological and molecular genetic evaluation

Monica Sciacco, Alessandro Prelle, Giacomo P. Comi, Laura Napoli, Alessandro Battistel, Nereo Bresolin, Lucia Tancredi, Costanza Lamperti, Adreina Bordoni, Gigliola Fagiolari, Patrizia Ciscato, Luca Chiveri, Maria Paola Perini, Francesco Fortunato, Laura Adobbati, Stefano Messina, Antonio Toscano, Filippo Martinelli-Boneschi, Alex Papadimitriou, Guglielmo Scarlato & 1 others Maurizio Moggio

Research output: Contribution to journalArticle

39 Citations (Scopus)

Abstract

Mitochondrial disorders are human genetic diseases with extremely variable clinical and genetic features. To better define them, we made a genotype-phenotype correlation in a series of 207 affected patients, and we examined most of them with six laboratory examinations (serum CK and basal lactate levels, EMG, cardiac and EEG studies, neuroradiology). We found that, depending on the genetic abnormality, hyperckemia occurs most often with either chronic progressive external ophthalmoplegia (CPEO) and ptosis or with limb weakness. Myopathic EMGs are more common than limb weakness, except in patients with A8344G mutations. Peripheral neuropathy, when present, is always axonal. About 80% of patients with A3243G and A8344G mutations have high basal lactate levels, whereas pure CPEO is never associated with increased lactate levels. Cardiac abnormalities mostly consist of conduction defects Abnormalities on CT or MRI of the brain are relatively common in A3243G mutations independently of the clinical phenotype. Patients with multiple mtDNA deletions are somehow "protected" against the development of abnormalities with any of the tests. We conclude that, despite the phenotypic heterogeneity of mitochondrial disorders, correlation of clinical features and laboratory findings may give the clinician important clues to the genetic defect, allowing earlier diagnosis and counselling.

Original languageEnglish
Pages (from-to)778-788
Number of pages11
JournalJournal of Neural Transmission
Volume108
Issue number8-9
Publication statusPublished - 2001

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Mitochondrial Diseases
Molecular Biology
Retrospective Studies
Chronic Progressive External Ophthalmoplegia
Lactic Acid
Mutation
Population
Extremities
Inborn Genetic Diseases
Medical Genetics
Genetic Association Studies
Peripheral Nervous System Diseases
Mitochondrial DNA
Counseling
Early Diagnosis
Electroencephalography
Phenotype
Brain
Serum

Keywords

  • Clinical evaluation
  • Mitochondrial
  • Neurogenetics
  • Neuromuscular disease

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Retrospective study of a large population of patients affected with mitochondrial disorders : Clinical, morphological and molecular genetic evaluation. / Sciacco, Monica; Prelle, Alessandro; Comi, Giacomo P.; Napoli, Laura; Battistel, Alessandro; Bresolin, Nereo; Tancredi, Lucia; Lamperti, Costanza; Bordoni, Adreina; Fagiolari, Gigliola; Ciscato, Patrizia; Chiveri, Luca; Perini, Maria Paola; Fortunato, Francesco; Adobbati, Laura; Messina, Stefano; Toscano, Antonio; Martinelli-Boneschi, Filippo; Papadimitriou, Alex; Scarlato, Guglielmo; Moggio, Maurizio.

In: Journal of Neural Transmission, Vol. 108, No. 8-9, 2001, p. 778-788.

Research output: Contribution to journalArticle

Sciacco, M, Prelle, A, Comi, GP, Napoli, L, Battistel, A, Bresolin, N, Tancredi, L, Lamperti, C, Bordoni, A, Fagiolari, G, Ciscato, P, Chiveri, L, Perini, MP, Fortunato, F, Adobbati, L, Messina, S, Toscano, A, Martinelli-Boneschi, F, Papadimitriou, A, Scarlato, G & Moggio, M 2001, 'Retrospective study of a large population of patients affected with mitochondrial disorders: Clinical, morphological and molecular genetic evaluation', Journal of Neural Transmission, vol. 108, no. 8-9, pp. 778-788.
Sciacco, Monica ; Prelle, Alessandro ; Comi, Giacomo P. ; Napoli, Laura ; Battistel, Alessandro ; Bresolin, Nereo ; Tancredi, Lucia ; Lamperti, Costanza ; Bordoni, Adreina ; Fagiolari, Gigliola ; Ciscato, Patrizia ; Chiveri, Luca ; Perini, Maria Paola ; Fortunato, Francesco ; Adobbati, Laura ; Messina, Stefano ; Toscano, Antonio ; Martinelli-Boneschi, Filippo ; Papadimitriou, Alex ; Scarlato, Guglielmo ; Moggio, Maurizio. / Retrospective study of a large population of patients affected with mitochondrial disorders : Clinical, morphological and molecular genetic evaluation. In: Journal of Neural Transmission. 2001 ; Vol. 108, No. 8-9. pp. 778-788.
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