Abstract |
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.
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Authors | Monica Bandettini Di Poggio, Margherita Monti Bragadin, Lizia Reni, Laura Doria-Lamba, Cristina Cereda, Matteo Pardini, Luca Roccatagliata, Andrea Rossi, Angelo Schenone |
Journal | Amyotrophic lateral sclerosis & frontotemporal degeneration
(Amyotroph Lateral Scler Frontotemporal Degener)
Vol. 15
Issue 1-2
Pg. 141-4
(Mar 2014)
ISSN: 2167-9223 [Electronic] England |
PMID | 24079556
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Immunoglobulins, Intravenous
- Membrane Transport Proteins
- SLC52A3 protein, human
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Topics |
- Brain
(pathology)
- Bulbar Palsy, Progressive
(diagnosis, genetics, physiopathology, therapy)
- Child
- Evoked Potentials, Auditory, Brain Stem
(physiology)
- Hearing Loss, Sensorineural
(diagnosis, genetics, physiopathology, therapy)
- Humans
- Immunoglobulins, Intravenous
(therapeutic use)
- Magnetic Resonance Imaging
- Male
- Membrane Transport Proteins
(genetics)
- Mutation
(genetics)
- Neural Conduction
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