Comment je raisonne devant une leucoencéphalopathie chronique de l’adulte ?

Ayrignac, 2015, Adult-onset leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients, Brain, 138, 284, 10.1093/brain/awu353 Labauge, 2014, MRI pattern approach of adult-onset inherited leukoencephalopathies, Neurol Clin Pract, 4, 287, 10.1212/CPJ.0000000000000047 Chabriat, 2009, CADASIL, Lanc Neurol, 7, 643, 10.1016/S1474-4422(09)70127-9 Hara, 2009, Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease, N Engl J Med, 360, 1729, 10.1056/NEJMoa0801560 Verdura, 2015, Heterozygous HTRA1 mutations ares associated with autosomal dominant cerebral small vessel disease, Brain, 138, 2347, 10.1093/brain/awv155 Vahedi, 2011, Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease, Curr Opin Neurol, 1, 63, 10.1097/WCO.0b013e32834232c6 Bugiani, 2016, Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL), Neurol, 87, 1, 10.1212/WNL.0000000000003251 Polvi, 2012, Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, causes cerebral microangiopathy with calcifications and cysts, Am J Hum Genet, 90, 540, 10.1016/j.ajhg.2012.02.002 Jenkinson, 2016, Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts, Nat Genet, 48, 1185, 10.1038/ng.3661 Stam, 2016, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Brain, 10.1093/brain/aww217 Labauge, 2009, Natural history of adult-onset eIF2B-related disorderds: a multi-centric survey of 16 cases, Brain, 132, 2161, 10.1093/brain/awp171 Renard, 2012, Cinical and radiological characteristics in multiple sclerosis patients with large cavitary lesions, Eur Neurol, 68, 156, 10.1159/000338476 Ayrignac, 2016, Brain MRI helps to differentiate atypical multiple sclerosis with cavitary lesions and vanishing white matter disease, Eur J Neurol, 23, 995, 10.1111/ene.12931 Ayrignac, 2016, Posterior fossa involvement in the diagnosis of adult-onset inherited leukoencephalopathies, J Neurol, 263, 2361, 10.1007/s00415-016-8131-2 Apartis, 2012, FXTAS: new insights and the need for revised diagnostic criteria, Neurology, 79, 1898, 10.1212/WNL.0b013e318271f7ff Nicholson, 2013, CSF1R mutations link POLD and HDLS as a single disease entity, Neurology, 80, 1033, 10.1212/WNL.0b013e31828726a7 Labauge, 2011, Clinically asymptomatic adult patient with extensive LBSL, MRI pattern and DARS2 mutations, J Neurol, 258, 335, 10.1007/s00415-010-5755-5 Mochel, 2012, Adult polyglucosan body disease: natural history and key magnetic resonance imaging findings, Ann Neurol, 72, 433, 10.1002/ana.23598