KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction.

Missense mutations in kinesin family member 5A (KIF5A) cause spastic paraplegia 10. We report on 2 patients with de novo stop-loss frameshift variants in KIF5A resulting in a novel phenotype that includes severe infantile onset myoclonus, hypotonia, optic nerve abnormalities, dysphagia, apnea, and early developmental arrest. We propose that alteration and elongation of the carboxy-terminus of the protein has a dominant-negative effect, causing mitochondrial dysfunction in the setting of an abnormal kinesin "motor.

Recurrent primary fibrosarcoma of the brain treated with the GliaSite brachytherapy system: case report.

Background: Primary brain sarcomas are rarely curable with surgery and standard radiation therapy. They typically recur locally within 6 months of treatment. This case report describes a novel treatment approach for primary or recurrent brain sarcomas with intracavitary brachytherapy.