Rare diseases and Neurorehabilitation

Description

The research activity is devoted to the study of rare diseases. Their management requires a trans-disciplinary approach and the research activity goes in the direction of improving the possibilities of diagnosis and prevention as well as to initiate treatment and rehabilitation as more targeted and appropriate. The collection of patients with rare disease, their exact classification and the follow-up study over time are the basis for the subsequent genotype-phenotype correlation studies that allow to evaluate the association between the identified genetic mutations and the phenotypic variability. Brindisi Research Center is identified as Center dedicated to the diagnosis and treatment of patients with rare diseases and Presidium of National Network (PNR) for the group of diseases "Malformations of the nervous system"; it is also node of the Apulian Regional Network (RERP) for numerous rare diseases.

Current research project:
Niemann Pick type C disease with juvenile and adolescent onset - population screening. - P.I. Dott. A. Trabacc

Selected publications

• Trabacca A, Gennaro L. A Genetic Cause of Breathing Abnormalities and Severe Abdominal Distension. Pediatr Neurol. 2018 Jan;78:82-83. doi: 10.1016/j.pediatrneurol.2017.09.015. Epub 2017 Sep 28. PubMed PMID: 29167057.
• Trabacca A, Russo L. Children's rare disease rehabilitation: from multidisciplinarity to transdisciplinarity approach. Eur J Phys Rehabil Med. 2017 Nov 3. doi: 10.23736/S1973-9087.17.04900-0. [Epub ahead of print] PubMed PMID:29099161.
• Pasca MG, Lucarelli E, Russo L, Fanizza I, Trabacca A. Early onset brain calcifications secondary to hypoparathyroidism in a boy with syncopal-like symptomatology. Acta Neurol Belg. 2017 Sep;117(3):771-773. doi:10.1007/s13760-016-0729-8. Epub 2016 Dec 1. PubMed PMID: 27909973.
• Lucarelli E, Pasca MG, Fanizza I, Trabacca A. Electroclinical characteristics and neuropsychological profile of a female child with chromosome 5p13.2 duplication syndrome. Neurol Sci. 2017 May;38(5):915-917. doi:10.1007/s10072-017-2825-9. Epub 2017 Jan 20. PubMed PMID: 28108830.
• Losito L, Gennaro L, Cacudi M, De Rinaldis M, Trabacca A. Moebius syndrome and hydrosyringomyelia: description of a new association. J Child Neurol. 2013 Jun;28(6):801-4. doi: 10.1177/0883073812450946. Epub 2012 Jul 25. PubMed PMID:22832772.
• Crimella C, Baschirotto C, Arnoldi A, Tonelli A, Tenderini E, Airoldi G, Martinuzzi A, Trabacca A, Losito L, Scarlato M, Benedetti S, Scarpini E, Spinicci G, Bresolin N, Bassi MT. Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2. Clin Genet. 2012 Aug;82(2):157-64. doi: 10.1111/j.1399-0004.2011.01717.x. Epub 2011 Jun 21. PubMed PMID: 21623771.
• Losito L, Gennaro L, De Rinaldis M, Cacudi M, Trabacca A. Sjögren-Larsson syndrome: phenotypic variability in two brothers with a neurocutaneous disorder. Acta Neurol Belg. 2012 Jun;112(2):205-8. doi: 10.1007/s13760-012-0035-z. Epub 2012 Feb 2. PubMed PMID: 22426667.
• Salvaterra E, Giorda R, Bassi MT, Borgatti R, Knudsen LE, Martinuzzi A, Nobile M, Pozzoli U, Ramelli GP, Reni GL, Rivolta D, Stazi MA, Strazzer S, Thijs C, Toccaceli V, Trabacca A, Turconi AC, Zanini S, Zucca C, Bresolin N, Lenzi On Behalf Of The Pediatric Biobank Elsi Working Group L. Pediatric biobanking: a pilot qualitative survey of practices, rules, and researcher opinions in ten
• European countries. Biopreserv Biobank. 2012 Feb;10(1):29-36. doi: 10.1089/bio.2011.0037. Epub 2011 Dec 13. PubMed PMID: 24849751.
• Trabacca A, De Rinaldis M, Gennaro L, Losito L. Septo-optic dysplasia-plus and dyskinetic cerebral palsy in a child. Neurol Sci. 2012 Feb;33(1):159-63. doi:10.1007/s10072-011-0590-8.Epub 2011 Apr 30. PubMed PMID: 21533562.
• Trabacca A, Dicuonzo F, Gennaro L, Palma M, Cacudi M, Losito L, De Rinaldis M. Os odontoideum as a rare but possible complication in children with dyskinetic cerebral palsy: a clinical and neuroradiologic study. J Child Neurol. 2011 Aug;26(8):1021-5. doi: 10.1177/0883073810397835. Epub 2011 May 26. PubMed PMID: 21616925.
• Trabacca A, Losito L, De Rinaldis M, Gennaro L. Congenital hypotonia in a child with a de novo 22q13 monosomy and 2pter duplication: a clinical and molecular genetic study. J Child Neurol. 2011 Feb;26(2):235-8. doi: 10.1177/0883073810381444. Epub 2010 Oct 4. PubMed PMID: 20921566.
• Crimella C, Tonelli A, Airoldi G, Baschirotto C, D'Angelo MG, Bonato S, Losito L, Trabacca A, Bresolin N, Bassi MT. The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K. J Med Genet. 2010 Oct;47(10):712-6. doi: 10.1136/jmg.2010.077909. Epub 2010 Aug 3. PubMed PMID: 20685671.
• Losito L, De Rinaldis M, Gennaro L, Priori SG, Bloise R, Bassi MT, Bresolin N, Trabacca A. Charcot-Marie-Tooth type 1a in a child with Long QT syndrome. Eur J Paediatr Neurol. 2009 Sep;13(5):459-62. doi: 10.1016/j.ejpn.2008.07.011. Epub 2008 Sep 16. PubMed PMID: 18799333.
• Crippa F, Panzeri C, Martinuzzi A, Arnoldi A, Redaelli F, Tonelli A, Baschirotto C, Vazza G, Mostacciuolo ML, Daga A, Orso G, Profice P, Trabacca A, D'Angelo MG, Comi GP, Galbiati S, Lamperti C, Bonato S, Pandolfo M, Meola G, Musumeci O, Toscano A, Trevisan CP, Bresolin N, Bassi MT. Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. Arch Neurol. 2006 May;63(5):750-5. PubMed PMID: 16682546.

Partnerships

• UOC Neuropsichiatria Infantile - Università degli Studi di Bari "Aldo Moro"
• Dipartimento di Psicologia - Università degli Studi di Bari "Aldo Moro"
• Dipartimento di Psicologia - Università del Salento - Lecce
• Dipartimento d'Ingegneria dell'Innovazione (DII) Università del Salento - Lecce
• UO di Gastroenterologia Pediatrica - Università degli Studi di Bari" Aldo Moro"
• Miami Childrens Hospital - USA
• Laboratorio di Psicologia Università del Salento - Lecce 
• Gruppo Italiano Paralisi Cerebrali Infantili (GIPCI) - Fondazione Pierfranco e Luisa Mariani - Milano
• Coordinamento Regionale Malattie Rare - l'Agenzia Regionale Strategica per la Salute ed il Sociale - Regione Puglia
• UOC di Oncoematologia Pediatrica - Ospedale V. Fazzi di Lecce - ASL Lecce
• UOC di Pediatria - Ospedale A. Perrino - Brindisi - ASL Brindisi
• Ospedale Pediatrico Giovanni XXII Bari