Antonio Trabacca

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Spastic paraplegia type 10 (SPG10) is an autosomal dominant form of hereditary spastic paraplegia (HSP) due to mutations in KIF5A, a gene encoding the neuronal kinesin heavy chain implicated in anterograde axonal transport. KIF5A mutations were found in both pure and complicated forms of the disease; a single KIF5A mutation was also detected in a CMT2(More)
OBJECTIVE The aim of this study was to compare the effects of modified constraint-induced movement therapy (mCIMT; restraint of unaffected limb combined with unimanual intensive rehabilitation) with those of a bimanual intensive rehabilitation treatment (IRP) in children with hemiplegic cerebral palsy after a 10-wk practice vs. standard treatment (ST). (More)
BACKGROUND Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous disorders characterized by progressive spasticity of the lower limbs. Mutations in the SPG4 gene, which encodes spastin protein, are responsible for up to 45% of autosomal dominant cases. OBJECTIVE To search for disease-causing mutations in a large series of Italian(More)
The authors describe a 5-year-old girl with a neurological phenotype of 22q13 deletion syndrome (neonatal and persisting hypotonia, developmental delay, absence of language, decreased perception of pain) and minor dysmorphisms. Subtelomeric fluorescent in situ hybridization tests revealed de novo 22q13 monosomy and 2pter duplication. Numerous genetic and(More)
Children in a vegetative state (VS) and a minimally conscious state (MCS) experience severe limitations as a consequence of nervous system deficits and require consistent environmental support. However, disability in VS and MCS children has never been described following a model that accounts for the presence of the symptoms, limitations and the support(More)
BACKGROUND Mutations in GDAP1 associate with demyelinating (CMT4A) and axonal (CMT2K) forms of CMT. While CMT4A shows recessive inheritance, CMT2K can present with either recessive (AR-CMT2K) or dominant segregation pattern (AD-CMT2K), the latter being characterised by milder phenotypes and later onset. The majority of the GDAP1 mutations are associated(More)
Caring for children in vegetative state (VS) or minimally conscious state (MCS) challenges parents and impacts on their well-being. This study aims to evaluate caregivers' health condition, coping, anxiety and depression levels, and how these issues relate to children's disability. 35 children with VS and MCS were administered the disability rating scale(More)
The authors report the case of a child with cerebral palsy and refractory epilepsy who developed nonconvulsive status epilepticus without acute medical cause treated successfully with levetiracetam. In accordance with other studies whose authors hypothesized that aggressive treatment may worsen the prognosis in elderly patients with nonconvulsive status(More)
Ethical, legal, and social issues related to the collection, storage, and use of biospecimens and data derived from children raise critical concerns in the international debate. So far, a number of studies have considered a variety of the individual issues crucial to pediatric biobanking such as decision making, privacy protection, minor recontact, and(More)