Brown-Vialetto-Van Laere syndrome: clinical and neuroradiological findings of a genetically proven patient.
The Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disorder characterized by progressive pontobulbar palsy, sensorineural deafness and mixed spinal and upper motor neuropathy. Mutations in the C20orf54 gene have been linked to the disease and recently we reported the first Italian case of a BVVLS family with an intriguing C20orf54 genotype. However, the pathomechanisms underlying BVVLS are still unknown. Here we present the particular disease course with partial response to immunosuppressive therapy of our BVVLS patient for whom we hypothesize that dysimmune factors may have played a role in disease physiopathology.
Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa.
Monica
M
Bandettini Di Poggio
Margherita
M
Monti Bragadin
Lizia
L
Reni
Laura
L
Doria-Lamba
Cristina
C
Cereda
Matteo
M
Pardini
Luca
L
Roccatagliata
Andrea
A
Rossi
Angelo
A
Schenone
D001921:Brain / Q000473:pathology*; D010244:Bulbar Palsy, Progressive / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D002648:Child; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D008279:Magnetic Resonance Imaging; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009431:Neural Conduction
D016756:Immunoglobulins, Intravenous; D026901:Membrane Transport Proteins; C548553:SLC52A3 protein, human