Three faces of the same gene: FA2H links neurodegeneration with brain iron accumulation, leukodystrophies, and hereditary spastic paraplegias

Annals of Neurology

Volumn 68, Issue 5, 2010, Pages 575-577

  Schneider, Susanne A ^a   Bhatia, Kailash P ^b  

^a UNIVERSITY OF LÜBECK   (Germany)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CERULOPLASMIN; FATTY ACID 2 HYDROXYLASE; FERRITIN; OXYGENASE; PANTOTHENATE KINASE 2; PHOSPHOLIPASE A2; UNCLASSIFIED DRUG;

BASAL GANGLION; DYSTROPHY; EDITORIAL; FATTY ACID SYNTHESIS; GENE MUTATION; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; LEUKODYSTROPHY; LIPOGENESIS; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NEUROFIBRILLARY TANGLE; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; RECESSIVE INHERITANCE;

BRAIN; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HUMANS; IRON; MIXED FUNCTION OXYGENASES; MUTATION;

EID: 78249241180     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.22211     Document Type: Editorial

References (18)

1. Kruer MC, Paisan-Ruiz C, Boddaert N, et al. Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol 2010; 68: 611 - 618.
2. Edvardson S, Hama H, Shaag A, et al. Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. Am J Hum Genet 2008; 83: 643 - 648.
3. Dick KJ, Eckhardt M, Paisan-Ruiz C, et al. Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). Hum Mutat 2010; 31: E1251 - E1260.
4. Schneider SA, Bhatia KP, Hardy J,. Complicated recessive dystonia parkinsonism syndromes. Mov Disord 2009; 24: 490 - 499.
5. Bras J, Singleton A, Cookson MR, et al. Potential role of ceramide metabolism in Lewy body disease. Eur J Biochem 2008; 275: 5767 - 5773.
6. Fink JK,. Hereditary spastic paraplegia. Curr Neurol Neurosci Rep 2006; 6: 65 - 76.
7. Kang SY, Lee MH, Lee SK, et al. Levodopa-responsive parkinsonism in hereditary spastic paraplegia with thin corpus callosum. Parkinsonism Relat Disord 2004; 10: 425 - 427.
8. Micheli F, Cersosimo MG, Zuniga RC,. Hereditary spastic paraplegia associated with dopa-responsive parkinsonism. Mov Disord 2006; 21: 716 - 717.
9. Schicks J, Synofzik M, Petrusson H, et al. Juvenile parkinsonism due to a novel SPG15 mutation. Mov Disord 2010; 25 (suppl 2): S524.
10. Anheim M, Lagier-Tourenne C, Stevanin G, et al. SPG11 spastic paraplegia. A new cause of juvenile parkinsonism. J Neurol 2009; 256: 104 - 108.
11. Hourani R, El-Hajj T, Barada WH, et al. MR imaging findings in autosomal recessive hereditary spastic paraplegia. AJNR Am J Neuroradiol 2009; 30: 936 - 940.
12. Malik I, Turk J, Mancuso DJ, et al. Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations. Am J Pathol 2008; 172: 406 - 416.
13. Paisan-Ruiz C, Li A, Schneider SA, et al. Clinical, genetic and neuropathological overlap between adult onset dystonia-parkinsonism and neuroaxonal dystrophy due to mutations in the PLA2G6 (PARK14) gene. Neurology (in press).
14. Neumann M, Adler S, Schluter O, et al. Alpha-synuclein accumulation in a case of neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome) with widespread cortical and brainstem-type Lewy bodies. Acta Neuropathol 2000; 100: 568 - 574.
15. White KD, Ince PG, Lusher M, et al. Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation. Neurology 2000; 55: 89 - 94.
16. Hudson LD,. Pelizaeus-Merzbacher disease and spastic paraplegia type 2. J Child Neurol 2003; 18: 616 - 624.
17. Magen D, Georgopoulos C, Bross P, et al. Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. Am J Hum Genet 2008; 83: 30 - 42.
18. Paisan-Ruiz C, Bhatia KP, Li A, et al. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol 2009; 65: 19 - 23.