“Mitochondrial neuropathies”: a survey from the large cohort of the Italian Network

Highlights • Clinical data analyses of 1200 patients with mitochondrial disorders showed that the minimum prevalence of a peripheral neuropathy is 12.4% • Mitochondrial neuropathic patients have an increased prevalence of ataxia, hearing loss, muscle weakness and muscle wasting • Mitochondrial DNA s...

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Published in:Neuromuscular disorders : NMD 2016-04, Vol.26 (4-5), p.272-276
Main Authors: Mancuso, Michelangelo, Orsucci, Daniele, Angelini, Corrado, Bertini, Enrico, Carelli, Valerio, Comi, Giacomo Pietro, Federico, Antonio, Minetti, Carlo, Moggio, Maurizio, Mongini, Tiziana, Tonin, Paola, Toscano, Antonio, Bruno, Claudio, Ienco, Elena Caldarazzo, Filosto, Massimiliano, Lamperti, Costanza, Diodato, Daria, Moroni, Isabella, Musumeci, Olimpia, Pegoraro, Elena, Spinazzi, Marco, Ahmed, Nagia, Sciacco, Monica, Vercelli, Liliana, Ardissone, Anna, Zeviani, Massimo, Siciliano, Gabriele
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age of Onset
Disease registry
Female
Human health and pathology
Humans
Italy - epidemiology
Life Sciences
Male
Mitochondrial Diseases - epidemiology
Mitochondrial Diseases - genetics
Mitochondrial Diseases - physiopathology
Mitochondrial myopathies
mtDNA
Neurology
Neuropathy
Peripheral nerve
Peripheral Nervous System Diseases - epidemiology
Peripheral Nervous System Diseases - genetics
Peripheral Nervous System Diseases - physiopathology
Prevalence
Retrospective Studies
Young Adult
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Summary:Highlights • Clinical data analyses of 1200 patients with mitochondrial disorders showed that the minimum prevalence of a peripheral neuropathy is 12.4% • Mitochondrial neuropathic patients have an increased prevalence of ataxia, hearing loss, muscle weakness and muscle wasting • Mitochondrial DNA single deletions and LHON mutations are rarely associated with neuropathy • POLG mutations may cause a potentially painful, axonal/mixed, mainly sensory polyneuropathy • TYMP and SURF1 mutations lead to a demyelinating sensory-motor polyneuropathy
ISSN:0960-8966
1873-2364
1873-2364
DOI:10.1016/j.nmd.2016.02.008