2 results match your criteria: "Centre de Référence des Maladies Lysosomiales[Affiliation]"
Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.
Brain
February 2015
1 Département de Neurologie, CHU de Montpellier, 34295 Montpellier, France
Article Synopsis
- Inherited white matter diseases, previously thought to mainly affect infants, are increasingly recognized in adults, prompting researchers to study their prevalence and diagnostic effectiveness in adults over 16 years old.
- The study analyzed brain MRIs of 154 adult patients, finding distinct groups of leukoencephalopathies and achieving a diagnosis in 64% of cases.
- Key findings included the identification of specific genetic disorders, such as CADASIL and EIF2B-related disorders, highlighting the value of systematic diagnostic approaches in adult-onset cases.
Type 2 Gaucher disease: 15 new cases and review of the literature.
Brain Dev
January 2006
Service de Neurologie Pédiatrique, Hôpital Armand Trousseau, AP-HP, Paris, Centre de Référence des Maladies Lysosomiales, 26 avenue du docteur Arnold Netter, 75012 Paris, France
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.