Publications by authors named "R Barahona-Hernando"

Background: Pathogenic variants in the spastic paraplegia type 7 gene cause a complicated hereditary spastic paraplegia phenotype associated with classical features of mitochondrial diseases, including ataxia, progressive external ophthalmoplegia, and deletions of mitochondrial DNA.

Objectives: To better characterize spastic paraplegia type 7 disease with a clinical, genetic, and functional analysis of a Spanish cohort of spastic paraplegia type 7 patients.

Methods: Genetic analysis was performed in patients suspecting hereditary spastic paraplegia and in 1 patient with parkinsonism and Pisa syndrome, through next-generation sequencing, whole-exome sequencing, targeted Sanger sequencing, and multiplex ligation-dependent probe analysis, and blood mitochondrial DNA levels determined by quantitative polymerase chain reaction.

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Objective: Epicrania fugax (EF) is a primary headache of recent description. We aimed to report 19 new cases of EF, and thus contribute to the characterization of this emerging headache.

Background: EF is characterized by painful paroxysms starting in a particular area of the head, and rapidly radiating forwards or backwards through the territories of different nerves.

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