Genomes and Genes
Affiliation: University of Genoa
- The spectrum of GNE mutations: allelic heterogeneity for a common phenotypeMarina Grandis
Section of Neurology and Neurological Rehabilitation, Department of Neuroscience, Ophthalmology and Genetics, University of Genova, Via De Toni 5, 16132, Genoa, Italy
Neurol Sci 31:377-80. 2010..The second patient showed a slowly progressive deterioration, different from other patients carrying mutations in the epimerase domain, who had a severe and rapid progression...
- Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutationsMarina Grandis
Department of Neurosciences, Ophthalmology and Genetics, Universityof Genova, 16132 Genova, Italy
Hum Mol Genet 17:1877-89. 2008..Further characterization of these pathways will lead to a better understanding of the pathogenesis of CMT1B and a rational basis for treating these debilitating inherited neuropathies...
- Impaired expression of ciliary neurotrophic factor in Charcot-Marie-Tooth type 1A neuropathyLucilla Nobbio
Department of Neurosciences, Ophthalmology and Genetics, Center of Excellence for Biomedical Research, University of Genoa, Italy
J Neuropathol Exp Neurol 68:441-55. 2009..Moreover, the observations suggest that trophic support to the axon is impaired in CMT1A and that further studies on the therapeutic use of trophic factors or their derivatives in experimental and human CMT1A are warranted...
- HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patientsSimona Capponi
Department of Neuroscience, Ophthalmology and Genetics Section of Medical Genetics, University of Genoa, Genoa, Italy
J Peripher Nerv Syst 16:287-94. 2011..Recent literature data suggest a continuum between dHMN and CMT2. We confirm this finding in our cohort, proposing a definite relationship between these disorders...
- Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathiesPaola Mandich
Department of Neuroscience, Ophthalmology and Genetics, University of Genoa, Genoa, Italy
Eur J Hum Genet 17:1129-34. 2009....
- Severe neuropathy after diphtheria-tetanus-pertussis vaccination in a child carrying a novel frame-shift mutation in the small heat-shock protein 27 genePaola Mandich
Department of Neurosciences, Ophthalmology and Genetics Section of Medical Genetics, University of Genova, Genova, Italy
J Child Neurol 25:107-9. 2010..This is the first truncating nonsense mutation in the small heat-shock protein 27 gene identified so far and the clinical, neurophysiologic, and neuropathological findings are discussed...
- Relapses after treatment with rituximab in a patient with multiple sclerosis and anti myelin-associated glycoprotein polyneuropathyLuana Benedetti
Department of Neurosciences, Ophthalmology, and Genetics, University of Genova, Via De Toni 5, 16132 Genova, Italy
Arch Neurol 64:1531-3. 2007..To describe the unique case of a patient with multiple sclerosis (MS) and anti-myelin-associated glycoprotein (MAG) polyneuropathy who developed MS relapses after treatment with rituximab...
- Early abnormalities in sciatic nerve function and structure in a rat model of Charcot-Marie-Tooth type 1A diseaseMarina Grandis
Department of Neuroscience, Ophthalmology and Genetics, University of Genoa, Via De Toni 5, 16132 Genoa, Italy
Exp Neurol 190:213-23. 2004..However, the presence of a molecular and functional damage of the axons suggests that this may be the correct moment to start neuroprotective therapies...
- Gain of glycosylation: a new pathomechanism of myelin protein zero mutationsValeria Prada
Department of Neurosciences, Ophthalmology, and Genetics, University of Genoa, Genoa, Italy
Ann Neurol 71:427-31. 2012..By sequential experiments, we demonstrated that hyperglycosylation is the main mechanism of this mutation. Gain of glycosylation is a new mechanism in Charcot-Marie-Tooth type 1B...
- Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutationValeria Prada
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, Section of Neurology, University of Genova, Genova, Italy
Neuropathology 35:254-9. 2015..In conclusion this case highlights the relevance, in selected cases, of sural nerve biopsy to orient the genetic/molecular tests, while in vitro analyses may strengthen the pathogenic role of novel mutations. ..
- A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathyOlimpia Musumeci
Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy
Neurol Sci 32:665-8. 2011..608C>G) of KIF5A gene resulting in a serine to cysteine substitution, S203C, located in a highly conserved domain of the protein. This pedigree confirms the occurrence of an axonal peripheral neuropathy in SPG10...
- Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth diseasePaola Mandich
Department of Neuroscience, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova, c o DIMI, Viale Benedetto XV, 6, 16132 Genova, Italy
J Hum Genet 53:529-33. 2008..2 duplication, regardless of the gender of the proband, as well as in CMT2 patients with possible X-linked inheritance...
- Predictors of response to rituximab in patients with neuropathy and anti-myelin associated glycoprotein immunoglobulin MLuana Benedetti
Department of Neurosciences, Ophthalmology and Genetics, University of Genova, Genova, Italy
J Peripher Nerv Syst 12:102-7. 2007..These findings suggest that antibody reduction below a critical level may be necessary to achieve clinical improvement...
- Impairment of PMP22 transgenic Schwann cells differentiation in culture: implications for Charcot-Marie-Tooth type 1A diseaseLucilla Nobbio
Department of Neurosciences, Ophthalmology and Genetics, University of Genova, 16132 Genova, Italy
Neurobiol Dis 16:263-73. 2004..In conclusion, exposure of PMP22(tg) Schwann to the axon or to axonal-mimicking stimuli significantly affects the transition of transgenic Schwann cells to the myelinating phenotype...
- Influence of comorbidities on the phenotype of patients affected by Charcot-Marie-Tooth neuropathy type 1AGiulia Ursino
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal Infantile Sciences, University of Genoa, Italy
Neuromuscul Disord 23:902-6. 2013....
- Inherited neuropathiesAngelo Schenone
Department of Neuroscience, Ophthalmology, and Genetics, University of Genoa, Via De Toni 5, 16132, Genova, Italy
Curr Treat Options Neurol 13:160-79. 2011..No evidence suggests any specific surgical intervention or change in diet or lifestyle for patients affected by various types of CMT...
- Major myelin protein gene (P0) mutation causes a novel form of axonal degenerationJun Li
Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan 48201, USA
J Comp Neurol 498:252-65. 2006..This report represents the first study in which the molecular basis of axonal degeneration in the late-onset CMT1B has been explored in human tissue...
- Phenotypic clustering in MPZ mutationsMichael E Shy
Department of Neurology, Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, USA
Brain 127:371-84. 2004..In contrast, late onset neuropathy is caused by mutations that more subtly alter myelin structure and which probably disrupt Schwann cell-axonal interactions...
- Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedsideJun Li
Department of Neurology, Wayne State University School of Medicine, Detroit, MI 48201, USA
Brain 128:1168-77. 2005..Taken together, our data suggest that skin biopsy may in certain circumstances replace the more invasive sural nerve biopsy in the morphological and molecular evaluation of inherited and other demyelinating neuropathies...