A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: A case report with literature review

Journal of the Neurological Sciences

Volumn 329, Issue 1-2, 2013, Pages 1-5

  Cao, Li ^a   Huang, Xiao Jun ^a   Chen, Chan Juan ^a   Chen, Sheng Di ^a  

^a SHANGHAI SECOND MEDICAL UNIVERSITY   (China)

Author keywords

Fatty acid 2 hydroxylase (FA2H); Hereditary Spastic Paraplegia (HSP); Hereditary Spastic Paraplegia Type 35 (SPG35)

Indexed keywords

FATTY ACID 2 HYDROXYLASE; FATTY ACID DERIVATIVE; UNCLASSIFIED DRUG;

ARTICLE; CHINESE; CLINICAL FEATURE; CONTROLLED STUDY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL; SIBLING;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIXED FUNCTION OXYGENASES; MUTATION; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84876680223     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2013.02.026     Document Type: Article

References (15)

1. J. Finsterer, W. Loscher, S. Quasthoff, J. Wanschitz, M. Auer-Grumbach, and G. Stevanin Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance J Neurol Sci 318 1-2 2012 1 18
2. K.J. Dick, M. Eckhardt, C. Paisan-Ruiz, A.A. Alshehhi, C. Proukakis, and N.A. Sibtain Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35) Hum Mutat 31 4 2010 E1251 E1260
3. K.J. Dick, R. Al-Mjeni, W. Baskir, R. Koul, M.A. Simpson, and M.A. Patton A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23 Neurology 71 4 2008 248 252
4. M.C. Kruer, C. Paisan-Ruiz, N. Boddaert, M.Y. Yoon, H. Hama, and A. Gregory Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA) Ann Neurol 68 5 2010 611 618
5. T.M. Pierson, D.R. Simeonov, M. Sincan, D.A. Adams, T. Markello, and G. Golas Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration Eur J Hum Genet 20 4 2012 476 479
6. N.L. Alderson, B.M. Rembiesa, M.D. Walla, A. Bielawska, J. Bielawski, and H. Hama The human FA2H gene encodes a fatty acid 2-hydroxylase J Biol Chem 279 47 2004 48562 48568
7. M. Eckhardt, A. Yaghootfam, S.N. Fewou, I. Zoller, and V. Gieselmann A mammalian fatty acid hydroxylase responsible for the formation of alpha-hydroxylated galactosylceramide in myelin Biochem J 388 Pt 1 2005 245 254
8. S. Edvardson, H. Hama, A. Shaag, J.M. Gomori, I. Berger, and D. Soffer Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia Am J Hum Genet 83 5 2008 643 648
9. M. Kruer, A. Gregory, and S.J. Hayflick Fatty acid hydroxylase-associated neurodegeneration 1993
10. A. Gregory, and S.J. Hayflick Genetics of neurodegeneration with brain iron accumulation Curr Neurol Neurosci Rep 11 3 2011 254 261
11. C. Garone, T. Pippucci, D.M. Cordelli, R. Zuntini, G. Castegnaro, and C. Marconi FA2H-related disorders: a novel c.270 + 3A>T splice-site mutation leads to a complex neurodegenerative phenotype Dev Med Child Neurol 53 10 2011 958 961
12. A. Tonelli, M.G. D'Angelo, F. Arrigoni, E. Brighina, A. Arnoldi, and A. Citterio Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation Eur J Neurol 19 11 2012 e127 e129
13. R. Rupps, J. Hukin, M. Balicki, S. Mercimek-Mahmutoglu, A. Rolfs, and C. Dias Novel mutations in FA2H-associated neurodegeneration: an underrecognized condition? J Child Neurol Sep 10 2012 [Epub ahead of print]
14. D. Magen, C. Georgopoulos, P. Bross, D. Ang, Y. Segev, and D. Goldsher Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy Am J Hum Genet 83 1 2008 30 42
15. P. Saugier-Veber, A. Munnich, D. Bonneau, J.M. Rozet, M. Le Merrer, and R. Gil X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus Nat Genet 6 3 1994 257 262