University of Health and Law. I am grateful to my supervisor Prof. Dr. Michel Lhermitte for his advice, encouragement and support as well as his patience during the past few years. I wish to thank members of the " Forensic Toxicology Unit " , CHRU de Lille, namely L. Humbert, J-F Wiart and C.Richeval, for creating favourable working conditions, placing their excellent analytical facilities and ...

UNLABELLED The physiopathology of symptoms and signs in multiple sclerosis (MS) is a less divulged topic albeit its importance in the patients' management. OBJECTIVE It was to summarize the main biophysical and biochemical mechanisms which produce the clinical manifestations in MS. RESULTS The mechanisms underpinning neurological deficits are described in the relapsing and in the progressiv...

CNS deletion of Pten in the mouse has revealed its roles in controlling cell size and number, thus providing compelling etiology for macrocephaly and Lhermitte-Duclos disease. PTEN mutations in individuals with autism spectrum disorders (ASD) have also been reported, although a causal link between PTEN and ASD remains unclear. In the present study, we deleted Pten in limited differentiated neur...

We systematically reviewed the localization of focal brain lesions that cause isolated hallucination in a single sensory modality. Case reports of post-lesion nonparoxysmal hallucination in 1 (and only 1) of 3 sensory modalities (i.e., visual, auditory, somatic) were reviewed, and the content of the qualitative descriptions was analyzed for each modality. The lesion is practically always locate...

PTEN (phosphatase and tensin homolog deleted on chromosome ten) is a lipid phosphatase that counteracts the function of phosphatidylinositol-3 kinase (PI3K). Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human cancers, as well as various brain disorders, including macrocephaly, seizures, Lhermitte-Duclos disease, and autism....

A 2-year-old boy presented with delayed motor skills and language since birth. Family history disclosed consanguineous parents. Examination showed global muscular hypotonia, optic atrophy, oculomotor apraxia, and normal head circumference. Brain MRI showed optic atrophy and macrocerebellum (figure). Laboratory tests revealed deficient activity of a-L-iduronidase in peripheral blood leukocytes a...