Thierry Billette de Villemeur

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Herpes simplex virus-1 (HSV-1) encephalitis (HSE) is the most common form of sporadic viral encephalitis in western countries. Its pathogenesis remains unclear, as it affects otherwise healthy patients and only a small minority of HSV-1-infected individuals. Here, we elucidate a genetic etiology for HSE in two children with autosomal recessive deficiency in(More)
OBJECTIVE To determine the spectrum of clinical, neuropsychological, and neuroradiologic features in patients with autosomal recessive primary microcephaly (MCPH) due to ASPM gene mutations. METHODS ASPM was sequenced in 52 unrelated MCPH probands. In patients with ASPM mutations, we evaluated the clinical phenotype, cognition, behavior, brain MRI, and(More)
OBJECTIVES To provide a description of type 2 Gaucher disease. To attempt to define type 2 Gaucher disease within the spectrum of early-onset neuronopathic Gaucher disease. BACKGROUND Type 2 Gaucher disease is a rare disorder due to glucocerebrosidase deficiency that comprises a rapidly progressing neurological degeneration associated with visceral signs.(More)
BACKGROUND Corpus callosum agenesis (CCA) is generally diagnosed in utero. Outcome appears to be better if the malformation is isolated. The aim of this study, which is the first one with a long (10 years) and standardized follow up, was to report cognitive abilities of children with isolated CCA diagnosed prenatally. METHODS We prospectively evaluated 17(More)
BACKGROUND Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurological deterioration. Published data on the use of miglustat in paediatric patients in clinical practice settings are limited. We report findings from a prospective open-label study in the French paediatric NP-C cohort. (More)
Hyperprolinemia type I (HPI) results from a deficiency of proline oxidase (POX), involved in the first step in the conversion of proline to glutamate. Diverse phenotypes were described in patients with HPI, prior to the identification of the POX gene (PRODH): whereas various patients were asymptomatic, others had neurological and extraneurological defects.(More)
BACKGROUND Lung involvement in children with Niemann-Pick disease has rarely been studied systematically. OBJECTIVE To assess the involvement of the lung and the value of bronchoalveolar lavage in children with Niemann-Pick diseases. DESIGN Retrospective analysis of patient records. PATIENTS Thirteen patients, with type A (n = 1), type B (n = 10), and(More)
BACKGROUND Clinical features, complications and treatments of Gaucher's disease (GD), a rare autosomal-recessive disorder due to a confirmed lysosomal enzyme (glucocerebrosidase) deficiency, are described. METHODS All patients with known GD, living in France, with ≥ 1 consultations (1980-2010), were included in the French GD registry, yielding the(More)
BACKGROUND Deficiency of mitochondrial trifunctional protein (MTP) is caused by mutations in the HADHA and HADHB genes, which have been mostly delineated at the genomic DNA level and have not been always elucidated. AIM To identify mutations in a French cohort of 52 MTP deficient patients and the susceptibility of mutations generating premature(More)