Prevalence and Diagnostic Journey of Friedreich's Ataxia in the State of S ão Paulo, Brazil
Cerebellum. 2024 Mar 23. doi: 10.1007/s12311-024-01687-w. Online ahead of print.ABSTRACTFriedreich's Ataxia (FRDA) is the leading cause of ataxia worldwide, but data on epidemiology and diagnostic journey are scarce, particularly in Latin America. Herein we estimated the prevalence of FRDA in the most populous Brazilian state and characterized the diagnostic odyssey of the disease. We received anonymized data of patients with FRDA from advocacy groups and physicians. Prevalence was estimated dividing the number of patients by the population of the state as reported in the last census. Patients were invited to answer an onl...
Source: Cerebellum - March 23, 2024 Category: Neuroscience Authors: Daiana Suelen Machado Celiana Figueiredo Viana Jos é Luiz Pedroso Orlando Graziani Povoas Barsottini Pedro Jos é Tomaselli Wilson Marques Thiago J R Rezende Alberto R M Martinez Marcondes Cavalcante Fran ça Source Type: research
Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings
CONCLUSIONS: Acquired vitamin deficiencies may display reversible clinical symptoms mimicking inherited metabolic disorders. Some situations raise suspicion for diagnosis: concordant clinical presentation, suggestive neuroimaging findings, and/or biochemical evidence. Any acute neurological condition should be treated without waiting for definitive biochemical confirmation.PMID:38520815 | DOI:10.1016/j.ejpn.2024.02.013 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 23, 2024 Category: Neurology Authors: Gabrielle Dupuy Charles-Joris Roux R émi Barrois Apolline Imbard Cl ément Pontoizeau Marie Th érèse Dangles M élodie Aubart Jean-Baptiste Arnoux Diane Margoses Ana ïs Brassier Clothilde Marbach Claire-Marine B érat Eug énie Sarda Cyril Gitiaux Pas Source Type: research
Prevalence and Diagnostic Journey of Friedreich's Ataxia in the State of S ão Paulo, Brazil
Cerebellum. 2024 Mar 23. doi: 10.1007/s12311-024-01687-w. Online ahead of print.ABSTRACTFriedreich's Ataxia (FRDA) is the leading cause of ataxia worldwide, but data on epidemiology and diagnostic journey are scarce, particularly in Latin America. Herein we estimated the prevalence of FRDA in the most populous Brazilian state and characterized the diagnostic odyssey of the disease. We received anonymized data of patients with FRDA from advocacy groups and physicians. Prevalence was estimated dividing the number of patients by the population of the state as reported in the last census. Patients were invited to answer an onl...
Source: Cerebellum - March 23, 2024 Category: Neuroscience Authors: Daiana Suelen Machado Celiana Figueiredo Viana Jos é Luiz Pedroso Orlando Graziani Povoas Barsottini Pedro Jos é Tomaselli Wilson Marques Thiago J R Rezende Alberto R M Martinez Marcondes Cavalcante Fran ça Source Type: research
Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings
CONCLUSIONS: Acquired vitamin deficiencies may display reversible clinical symptoms mimicking inherited metabolic disorders. Some situations raise suspicion for diagnosis: concordant clinical presentation, suggestive neuroimaging findings, and/or biochemical evidence. Any acute neurological condition should be treated without waiting for definitive biochemical confirmation.PMID:38520815 | DOI:10.1016/j.ejpn.2024.02.013 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 23, 2024 Category: Neurology Authors: Gabrielle Dupuy Charles-Joris Roux R émi Barrois Apolline Imbard Cl ément Pontoizeau Marie Th érèse Dangles M élodie Aubart Jean-Baptiste Arnoux Diane Margoses Ana ïs Brassier Clothilde Marbach Claire-Marine B érat Eug énie Sarda Cyril Gitiaux Pas Source Type: research
Prevalence and Diagnostic Journey of Friedreich's Ataxia in the State of S ão Paulo, Brazil
Cerebellum. 2024 Mar 23. doi: 10.1007/s12311-024-01687-w. Online ahead of print.ABSTRACTFriedreich's Ataxia (FRDA) is the leading cause of ataxia worldwide, but data on epidemiology and diagnostic journey are scarce, particularly in Latin America. Herein we estimated the prevalence of FRDA in the most populous Brazilian state and characterized the diagnostic odyssey of the disease. We received anonymized data of patients with FRDA from advocacy groups and physicians. Prevalence was estimated dividing the number of patients by the population of the state as reported in the last census. Patients were invited to answer an onl...
Source: Cerebellum - March 23, 2024 Category: Neuroscience Authors: Daiana Suelen Machado Celiana Figueiredo Viana Jos é Luiz Pedroso Orlando Graziani Povoas Barsottini Pedro Jos é Tomaselli Wilson Marques Thiago J R Rezende Alberto R M Martinez Marcondes Cavalcante Fran ça Source Type: research
Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings
CONCLUSIONS: Acquired vitamin deficiencies may display reversible clinical symptoms mimicking inherited metabolic disorders. Some situations raise suspicion for diagnosis: concordant clinical presentation, suggestive neuroimaging findings, and/or biochemical evidence. Any acute neurological condition should be treated without waiting for definitive biochemical confirmation.PMID:38520815 | DOI:10.1016/j.ejpn.2024.02.013 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 23, 2024 Category: Neurology Authors: Gabrielle Dupuy Charles-Joris Roux R émi Barrois Apolline Imbard Cl ément Pontoizeau Marie Th érèse Dangles M élodie Aubart Jean-Baptiste Arnoux Diane Margoses Ana ïs Brassier Clothilde Marbach Claire-Marine B érat Eug énie Sarda Cyril Gitiaux Pas Source Type: research
Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings
CONCLUSIONS: Acquired vitamin deficiencies may display reversible clinical symptoms mimicking inherited metabolic disorders. Some situations raise suspicion for diagnosis: concordant clinical presentation, suggestive neuroimaging findings, and/or biochemical evidence. Any acute neurological condition should be treated without waiting for definitive biochemical confirmation.PMID:38520815 | DOI:10.1016/j.ejpn.2024.02.013 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 23, 2024 Category: Neurology Authors: Gabrielle Dupuy Charles-Joris Roux R émi Barrois Apolline Imbard Cl ément Pontoizeau Marie Th érèse Dangles M élodie Aubart Jean-Baptiste Arnoux Diane Margoses Ana ïs Brassier Clothilde Marbach Claire-Marine B érat Eug énie Sarda Cyril Gitiaux Pas Source Type: research
Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings
CONCLUSIONS: Acquired vitamin deficiencies may display reversible clinical symptoms mimicking inherited metabolic disorders. Some situations raise suspicion for diagnosis: concordant clinical presentation, suggestive neuroimaging findings, and/or biochemical evidence. Any acute neurological condition should be treated without waiting for definitive biochemical confirmation.PMID:38520815 | DOI:10.1016/j.ejpn.2024.02.013 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 23, 2024 Category: Neurology Authors: Gabrielle Dupuy Charles-Joris Roux R émi Barrois Apolline Imbard Cl ément Pontoizeau Marie Th érèse Dangles M élodie Aubart Jean-Baptiste Arnoux Diane Margoses Ana ïs Brassier Clothilde Marbach Claire-Marine B érat Eug énie Sarda Cyril Gitiaux Pas Source Type: research
