Response to Biancheri et al. and Boepsflug-Tanguy et al.: AIMP1/p43 connatal PMLD

American Journal of Human Genetics

Volumn 88, Issue 3, 2011, Pages 393-395

  Feinstein, Miora ^a   Markus, Barak ^a   Noyman, Iris ^a   Shalev, Hannah ^a   Flusser, Hagit ^a   Shelef, Ilan ^a   Liani Leibson, Keren ^a   Shorer, Zamir ^a   Cohen, Idan ^a   Khateeb, Shareef ^a   Sivan, Sara ^a   Birk, Ohad S ^a  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

N ACETYLASPARTIC ACID; PROTEIN P43;

AIMP1 GENE; AXONAL INJURY; DEMYELINATION; DYSARTHRIA; EVOKED BRAIN STEM AUDITORY RESPONSE; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPOMYELINATING LEUKODYSTROPHY TYPE 4; KYPHOSCOLIOSIS; LETTER; LEUKODYSTROPHY; MICROCEPHALY; MOLECULAR GENETICS; MUSCLE HYPOTONIA; MUSCULAR DYSTROPHY; MYELINATION; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PELIZAEUS MERZBACHER DISEASE; PHENOTYPE; PLP1 GENE; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SEIZURE; SPASTIC PARAPLEGIA;

EID: 79952457654     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.01.020     Document Type: Letter

References (10)

1. Feinstein, M., Markus, B., Noyman, I., Shalev, H., Flusser, H., Shelef, I., Liani-Leibson, K., Shorer, Z., Cohen, I., Khateeb, S., et al. (2010). Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. Am. J. Hum. Genet. 87, 820-828.
2. Seeman, P., Paderova, K., Benes, V. Jr., and Sistermans, E.A. (2002). A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene. Int. J. Mol. Med. 9, 125-129.
3. Beri, S., Hussain, N., and Gosalakkal, J.A. (2010). Connatal Pelizaeus-Merzbacher disease: A great masquerader. Indian J. Pediatr. 77, 338.
4. Wang, J.M., Wu, Y., Wang, H.F., Deng, Y.H., Yang, Y.L., Qin, J., Li, X.Y., Wu, X.R., and Jiang, Y.W. (2008). Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease. Chin. Med. J. (Engl.) 121, 1638-1642.
5. Al-Saktawi, K., McLaughlin, M., Klugmann, M., Schneider, A., Barrie, J.A., McCulloch, M.C., Montague, P., Kirkham, D., Nave, K.A., and Griffiths, I.R. (2003). Genetic background determines phenotypic severity of the Plp rumpshaker mutation. J. Neurosci. Res. 72, 12-24.
6. Magen, D., Georgopoulos, C., Bross, P., Ang, D., Segev, Y., Goldsher, D., Nemirovski, A., Shahar, E., Ravid, S., Luder, A., et al. (2008). Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. Am. J. Hum. Genet. 83, 30-42.
7. Wang, P.J., Young, C., Liu, H.M., Chang, Y.C., and Shen, Y.Z. (1995). Neurophysiologic studies and MRI in Pelizaeus-Merzbacher disease: Comparison of classic and connatal forms. Pediatr. Neurol. 12, 47-53.
8. Henneke, M., Gegner, S., Hahn, A., Plecko-Startinig, B., Weschke, B., Gärtner, J., and Brockmann, K. (2010). Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease. Neurology 74, 1785-1789.
9. Steenweg, M.E., Vanderver, A., Blaser, S., Bizzi, A., de Koning, T.J., Mancini, G.M.S., van Wieringen, W.N., Barkhof, F., Wolf, N.I., and van der Knaap, M.S. (2010). Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain 133, 2971-2982.
10. Pizzini, F., Fatemi, A.S., Barker, P.B., Nagae-Poetscher, L.M., Horská, A., Zimmerman, A.W., Moser, H.W., Bibat, G.,and Naidu, S. (2003). Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease. AJNR Am. J. Neuroradiol. 24, 1683-1689.