We have also been confronted with the morphological dilemma of identifying characteristic hyaline intranuclear neuronal and/or astroglial inclusions in 10 post-mortem brains obtained from brain donors who gave their consent to use the brain tissue for research purposes: do these findings correspond to NIID, do they represent a mere incidental finding accompanying another neurodegenerative disease or are they related to an adult form of fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative disorder presenting with a wide spectrum of motor (tremor, ataxia, parkinsonism), cognitive and psychiatric symptoms in patients carrying a premutation (55–200 CGG repeats) at the fragile X mental retardation 1 gene (FMR1).
Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma / Gelpi, Ellen; Botta-Orfila, Teresa; Bodi, Laia; Marti, Stefanie; Kovacs, Gabor; Grau-Rivera, Oriol; Lozano, Manuel; Sánchez-Valle, Raquel; Muñoz, Esteban; Valldeoriola, Francesc; Pagonabarraga, Javier; Tartaglia, Gian-Gaetano; Milà, Montserrat. - In: BRAIN. - ISSN 0006-8950. - 140:8(2017). [10.1093/brain/awx156]
Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma
Tartaglia, Gian-Gaetano;
2017
Abstract
We have also been confronted with the morphological dilemma of identifying characteristic hyaline intranuclear neuronal and/or astroglial inclusions in 10 post-mortem brains obtained from brain donors who gave their consent to use the brain tissue for research purposes: do these findings correspond to NIID, do they represent a mere incidental finding accompanying another neurodegenerative disease or are they related to an adult form of fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative disorder presenting with a wide spectrum of motor (tremor, ataxia, parkinsonism), cognitive and psychiatric symptoms in patients carrying a premutation (55–200 CGG repeats) at the fragile X mental retardation 1 gene (FMR1).File | Dimensione | Formato | |
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