Clinical and molecular investigation in patients with indeterminate ataxias

• Grant number: 19/15298-1
• Support Opportunities: Regular Research Grants
• Start date: June 01, 2020
• End date: May 31, 2022
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: José Luiz Pedroso
• Grantee: José Luiz Pedroso
• Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
• Associated researchers: Ivana Rocha Raslan ; João Bosco Pesquero ; Marcondes Cavalcante Franca Junior ; Orlando Graziani Povoas Barsottini

Abstract

Ataxias are a clinically and genetically heterogeneous group of neurological diseases that affects individuals of all age groups causing a degenerative process in the cerebellum and their pathways. The most common genetics forms of ataxias are those caused by trinucleotide repeat expansions that can be easily tested using standard methods. With the advance of diagnostic techniques, many genes could be identified as the cause of previously indeterminate ataxias. However, approximately 40% of patients remains undiagnosed. In this study we aim to establish the molecular diagnosis of a Brazilian population with undetermined ataxia, through the realization of an Exome Whole test and investigate the correlations between genotype and phenotype in this population. (AU)

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

REZENDE FILHO, FLAVIO M.; PALMA, MARIANA M.; PEDROSO, JOSE LUIZ; BARSOTTINI, ORLANDO G.; SALLUM, JULIANA M.. PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women. NEUROLOGY-GENETICS, v. 7, n. 2, APR 2021. (19/15298-1)