Publications by authors named "Camille Giron"
Background And Objectives: Brain energy deficiency occurs at the early stage of Huntington disease (HD). Triheptanoin, a drug that targets the Krebs cycle, can restore a normal brain energetic profile in patients with HD. In this study, we aimed at assessing its efficacy on clinical and neuroimaging structural measures in HD.
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- The study focuses on adults with STXBP1-related developmental and epileptic encephalopathy (STXBP1-DEE), examining seizure types, movement disorders, and functional independence.
- It included 30 adult patients with severe epilepsy; 80% had treatment-resistant seizures, and most exhibited significant developmental impairment and behavioral challenges.
- Video assessments revealed gait and movement disorders in patients, with varying levels of mobility and a high prevalence of severe intellectual disability and autistic features.
Background: Neurophobia is a chronic disease of medical students and junior doctors. Early detection is needed to facilitate prevention and management as this fear can negatively impact patient care.
Methods: We conducted a two-part mono-centric study at the faculty of Medicine, Sorbonne University, in Paris.
Introduction: Paroxysmal movement disorders mostly comprise paroxysmal dyskinesia and episodic ataxia, and can be the consequence of a genetic disorder or symptomatic of an acquired disease.
Areas Covered: In this review, the authors focused on certain hot-topic issues in the field: the respective contribution of the cerebellum and striatum to the generation of paroxysmal dyskinesia, the importance of striatal cAMP turnover in the pathogenesis of paroxysmal dyskinesia, the treatable causes of paroxysmal movement disorders not to be missed, with a special emphasis on the treatment strategy to bypass the glucose transport defect in paroxysmal movement disorders due to GLUT1 deficiency, and functional paroxysmal movement disorders.
Expert Opinion: Treatment of genetic causes of paroxysmal movement disorders is evolving towards precision medicine with targeted gene-specific therapy.
Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome.
Tremor Other Hyperkinet Mov (N Y)
November 2018
Background: MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a severe neurometabolic disease with infantile onset.
Phenomenology Shown: Progressive and marked dystonia over a 6-year period in an adult male with MEGDEL syndrome.
Educational Value: Generalized dystonia may be the main manifestation of a milder form of MEGDEL syndrome, which begins during adulthood.