KEGG   DISEASE: H00841Help
Entry
H00841                      Disease                                

Name
Infantile progressive bulbar palsy, including:
Brown-Vialetto-Van Laere syndrome (BVVLS) ;
Fazio-Londe disease
Description
Infantile progressive bulbar palsy is a rare neurological disorder that occurs in children. Infantile progressive bulbar palsy presents as following two forms. The Brown-Vialetto-Van Laere syndrome (BVVLS) is characterized by progressive pontobulbar palsy associated with sensorineural deafness. The same clinical presentation without deafness is also known as Fazio Londe disease. Both are caused by mutation in the RFT2 gene.
Category
Neurodegenerative disease
BRITE hierarchy
Gene
RFT2 [HSA:113278] [KO:K14620]
Other DBs
ICD-10: 
OMIM: 
Reference
  Authors
Voudris KA, Skardoutsou A, Vagiakou EA
  Title
Infantile progressive bulbar palsy with deafness.
  Journal
Brain Dev 24:732-5 (2002)
Reference
  Authors
Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, Wanders RJ, Visser G, Wijburg FA, Duran M, Waterham HR
  Title
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.
  Journal
J Inherit Metab Dis 34:159-64 (2011)
Reference
  Authors
Sathasivam S
  Title
Brown-Vialetto-Van Laere syndrome.
  Journal
Orphanet J Rare Dis 3:9 (2008)
Reference
  Authors
Dipti S, Childs AM, Livingston JH, Aggarwal AK, Miller M, Williams C, Crow YJ
  Title
Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease.
  Journal
Brain Dev 27:443-6 (2005)

» Japanese version

DBGET integrated database retrieval system