Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy
Articolo
Data di Pubblicazione:
2012
Citazione:
Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy / P. Dacci, F. Taroni, E.D. Bella, M. Milani, D. Pareyson, M. Morbin, G. LAURIA PINTER. - In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. - ISSN 1085-9489. - 17:4(2012 Dec), pp. 422-425. [10.1111/j.1529-8027.2012.00443.x]
Abstract:
Mutations in myelin protein zero (MPZ) protein result in a wide spectrum of peripheral neuropathies, from congenital hypomyelinating to late onset sensory and motor axonal forms. In some patients, neuropathic pain can be a prominent symptom, making the diagnosis challenging mainly in those with other risk factors for neuropathy. We describe a 77-year-old woman with impaired glucose tolerance presenting with rapidly progressive axonal neuropathy leading to excruciating pain and severe weakness of lower limbs within 2 years from the onset. Her son abruptly complained of similar painful symptoms at the age of 47 years. Molecular analysis revealed a novel heterozygous missense mutation (c.106A>G) in MPZ exon 2, causing the substitution of arginine-36 with glycine in the extracellular domain. Our observation suggests that MPZ-related neuropathy should be considered in the diagnostic work up of patients with painful axonal neuropathy even presenting with rapid progression and at a very late age of onset.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
genetic; inherited neuropathy; myelin protein zero; neuropathic pain; peripheral neuropathy; Aged; Amino Acid Substitution; DNA; Female; Gait Disorders, Neurologic; Glucose Intolerance; Humans; Muscle Fatigue; Muscle Weakness; Mutation; Myelin P0 Protein; Neural Conduction; Neurologic Examination; Pain; Peripheral Nervous System Diseases; Polyradiculoneuropathy; Neurology (clinical); Neuroscience (all)
Elenco autori:
D. Patrizia, T. Franco, B. Eleonora Dalla, M. Micaela, P. Davide, M. Michela, G. LAURIA PINTER
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