ICNC Abstracts, ICNC 2018

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Hereditary spastic paraplefgia (HSP) in Brazilian children: a clinical and genetic study.
Roberta Magalhães Ortega, Marcondes Cavalcante França Jr., Sergio Rosemberg

Last modified: 2018-09-09


Introduction: HSP is a degenerative disorder with great genetic and phenotypic heterogeneity. The expansion of repetition of G4C2 of the gene C9ORF72 is the most common genetic abnormality in similar neurodegenerative disorders.Objective: to study the clinical spectrum and mutation of C9ORF72 in a cohort of Brazilian children.Methods: 35 patients whose ages varied from 1 to 11 years were enrolled. They were classified as having pure or complicated form of HSP. All underwent MRI of brain and spinal cord, ENMG, CSF analysis, funduscopy, auditory assessment, HTLV-1, HIV, VDRL serologies, levels of Vit B12 and E, copper, cerulosplamin ammonia, homocysteine and arginine, hexosaminidase A, galactocerebrosidase, serum immunoglobulins, alpha-fetoprotein, and acanthocytes analysis.. After this comprehensive clinical and laboratorial screening the patients who did not fit in the diagnosis of HSP were excluded.Results: Pure HSP: n=12  (7M, 5F). Mean age of onset: 2.9 years. Mean age between onset and diagnosis: 3 years. 7 reported progression of symptoms. 11 had independent gait. Complicated HSP: n=23 (11M,12F). Mean age of onset: 1.6 years. Mean age between onset and diagnosis: 6.4 years. 17 reported progression. Only 8 patients had independent gait. Intellectual disability was present in 20 patients, epilepsy in 6 and axonal peripheral polyneuropathy in 3. Thin corpus callosum with ear of lynx sign were encountered in 4.Conclusion: For the first time an overall study of HSP in Brazilian children was performed. None had mutation of C9ORF72 gene.


Hereditary spastic paraplegia; genetics

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