Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood

Developmental Medicine and Child Neurology

Volumn 54, Issue 4, 2012, Pages 292-293

  Spagnoli, Carlotta ^a   De Sousa, Carlos ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

RIBOFLAVIN;

ANTERIOR HORN CELL; APOPTOSIS; AUTOPSY; BROWN VIALETTO VAN LAERE SYNDROME; CHILDHOOD DISEASE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA REPAIR; ELECTROMYOGRAPHY; ELECTRON TRANSPORT; FATTY ACID METABOLISM; FAZIO LONDE DISEASE; FOLLOW UP; LIMB WEAKNESS; LIPID METABOLISM; MOTOR NEURON DISEASE; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MUSCLE BIOPSY; NOTE; OXIDATIVE PHOSPHORYLATION; PARALYSIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PTOSIS; RESPIRATORY FAILURE; STRIDOR;

BULBAR PALSY, PROGRESSIVE; CHILD; HEARING LOSS, SENSORINEURAL; HUMANS; MEMBRANE TRANSPORT PROTEINS;

EID: 84858278218     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2011.04179.x     Document Type: Note

References (5)

1. McShane MA, Boyd S, Harding B, Brett EM, Wilson J. Progressive bulbar paralysis of childhood. A reappraisal of Fazio-Londe disease. Brain 1992; 115: 1889-900.
2. Green P, Wiseman M, Crow YJ, et al. Brown-Vialetto-Van-Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in C20orf54. Am J Hum Genet 2010; 86: 485-9.
3. Bosch AM, Abeling NG, Ijlst L, et al. 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. J Inherit Metab Dis 2011; 34: 159-64.
4. Yamamoto S, Inoue K, Ohta KY, et al. Identification and functional characterization of rat riboflavin transporter 2. J Biochem 2009; 145: 437-43.
5. Roeleveld-Versteegh AB, Braun KP, Smeitink JA, Dorland L, de Koning TJ. Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood. J Inherit Metab Dis 2004; 27: 281-3.