Zanni G.,Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders |
Scotton C.,University of Ferrara |
Passarelli C.,University of Ferrara |
Passarelli C.,Bambino Gesu Childrens Hospital |
And 8 more authors.
Neurogenetics | Year: 2013
Whole exome sequencing in two-generational kindred from Bangladesh with early onset spasticity, mild intellectual disability, distal amyotrophy, and cerebellar atrophy transmitted as an autosomal recessive trait identified the following two missense mutations in the EXOSC3 gene: a novel p.V80F mutation and a known p.D132A change previously associated with mild variants of pontocerebellar hypoplasia type 1. This study confirms the involvement of RNA processing proteins in disorders with motor neuron and cerebellar degeneration overlapping with spinocerebellar ataxia 36 and rare forms of hereditary spastic paraplegia with cerebellar features. © 2013 Springer-Verlag Berlin Heidelberg.
Zorzi G.,Fondazione IRCCS Instituto Neurologico Carlo Besta |
Zibordi F.,Fondazione IRCCS Instituto Neurologico Carlo Besta |
Chiapparini L.,Fondazione IRCCS Instituto Neurologico Carlo Besta |
Bertini E.,Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders |
And 8 more authors.
Movement Disorders | Year: 2011
Background:: The safety and efficacy of the oral iron-chelating agent deferiprone on magnetic resonance pallida iron concentration and on clinical status were investigated in 10 patients affected by pantothenate kinase-associated neurodegeneration. Methods:: Nine patients (age range, 7-39 years) completed the study. Results:: A significant median reduction in globus pallidus iron content as assessed by T2* relaxometry (and calculated R2* maps; P =.008) was observed at the end of the study. None of the patients demonstrated a change in clinical status as assessed by the Burke-Fahn and Marsden Dystonia Rating scales and by a health-related quality-of-life scale. Deferiprone was well tolerated, and no serious adverse events occurred. Conclusions:: Future trials assessing the clinical efficacy of chelating therapy should consider early symptomatic patients and a longer treatment period. © 2011 Movement Disorder Society.