10.6084/m9.figshare.7710986.v1
Roberta Paiva Magalhães Ortega
Roberta Paiva Magalhães
Ortega
Sérgio Rosemberg
Sérgio
Rosemberg
Hereditary spastic paraplegia: a clinical and epidemiological study of a Brazilian pediatric population
SciELO journals
2019
Spastic paraplegia
hereditary
cerebral palsy
heredodegenerative disorders, nervous system
2019-02-13 02:48:28
Dataset
https://scielo.figshare.com/articles/dataset/Hereditary_spastic_paraplegia_a_clinical_and_epidemiological_study_of_a_Brazilian_pediatric_population/7710986
<div><p>ABSTRACT Aims: To investigate hereditary spastic paraplegia (HSP) in a pediatric Brazilian sample. Methods: Epidemiological, clinical, radiological and laboratory data were analyzed in 35 patients. Results: Simple HSP (HSP-S) was detected in 12 patients, and complicated HSP (HSP-C) was detected in 23 patients. The mean age of onset of symptoms was 2.9 years in HSP-S and 1.6 years in HSP-C (p = 0.023). The disease was more severe in HSP-C. There were no differences in sex, ethnic background, or family history between groups. Intellectual disability was the most frequent finding associated with HSP-C. Peripheral axonal neuropathy was found in three patients. In the HSP-C group, MRI was abnormal in 13 patients. The MRI abnormalities included nonspecific white matter lesions, cerebellar atrophy, thinning of the corpus callosum and the “ear of the lynx sign”. Conclusions: In children with spastic paraplegia, HSP must be considered whenever similar pathologies, mainly diplegic cerebral palsy, are ruled out.</p></div>