References
- Pelizaeus F. Ueber eine eigenthumliche Form spastischer Lähmung mit Cerebralerscheinungen auf hereditärer Grundlage (Multiple Sklerose). Arch Psychiat Nervenkrankh 1885; 16: 698–710
- Merzbacher L. Eine eigenartige familiär-hereditäre Erkrankungsform (Aplasia axialis extracorticalis congenita). Zeitschr Ges Neurol Psychiat 1910; 3: 1–138
- Koeppen AH, Ronca NA, Greenfield EA, Hans MB. Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease. Ann Neurol 1987; 21: 159–70
- Seitelberger F. Pelizaeus-Merzbacher disease. Handbook of clinical neurology, vol 10 (Leucodystrophies and poliodystrophies), PJ Vinken, GW Bruyn. North-Holland, Amsterdam 1970; 150–202
- Seitelberger F. Neuropathology and genetics of Pelizaeus-Merzbacher disease. Brain Pathol 1995; 5: 267–73
- Tranebjaerg L, Schwartz C, Eriksen H. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. J Med Genet 1995; 32: 257–63
- Seeman P, Paderova K, Benes V, Jr. 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 2002; 9: 125–9
- Battini R, Bianchi MC, Boespflug-Tanguy O, Tosetti M, Bonanni P, Canapicchi R. Unusual clinical and magnetic resonance imaging findings in a family with proteolipid protein gene mutation. Arch Neurol 2003; 60: 268–72
- Bonavita S, Schiffman R, Moore DF, Frei K, Choi B, Patronas MD, et al. Evidence of neuroaxonal injury in patients with proteolipid protein gene mutations. Neurology 2001; 56: 785–88
- Nezu A. Neurophysiological study in Pelizaeus-Merzbacher disease. Brain Dev 1995; 17: 175–81
- Kaga K, Tamai F, Kodama M, Kodama K. Three young adult patients with Pelizaeus-Merzbacher disease who showed only waves I and II in auditory brainstem responses but had good auditory perception. Acta Otolaryngol (Stockh) 2005; 125: 1018–23
- Kaga K, Yokochi K, Kitazumi E. Absence of later auditory brain stem response components, congenital horizontal nystagmus, and hypotonia in male infants. Ann Otol Rhinol Laryngol 1986; 95: 203–6
- Bird CR, Hedberg M, Drayer BP, Keller PJ, Flom RA, Hodak JA. MR assessment of myelination in infants and children: usefulness of marker sites. AJNR Am J Neuroradiol 1989; 10: 731–40
- van der Knaap MS, Valk J, Bakker CJ, Schooneveld M, Faber JA, Willemse J, et al. Myelination as an expression of the functional maturity of the brain. Dev Med Child Neurol 1991; 33: 849–57
- Konishi Y, Hayakawa K, Kuriyama M, Fujii Y, Sudo M, Konishi K, et al. Developmental features of the brain in preterm and fullterm infants on MR imaging. Early Hum Dev 1993; 34: 155–62
- Barkovich AJ, Kjos BO, Jackson DE, Jr, Norman D. Normal maturation of the neonatal and infant brain: MR imaging at 1.5 T. Radiology 1988; 166: 173–80
- Counsell SJ, Rutherford MA. Magnetic resonance imaging of the newborn brain. Current Paediatrics 2002; 12: 401–13
- Barkovich AJ. MR of the normal neonatal brain: assessment of deep structures. AJNR Am J Neuroradiol 1998; 19: 397–403
- Henkel CK. The auditory system. Fundamental neuroscience, DE Haines. Churchill Livingstone, Pennsylvania 2002; 323–40
- Inoue K, Tanaka H, Scaglia F. Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement. Ann Neurol 2001; 50: 747–54
- Nezu A, Kimura S, Takeshita S, Osaka H, Kimura K, Inoue K. An MRI and MRS study of Pelizaeus-Merzbacher disease. Pediatr Neurol 1998; 18: 334–7
- van der Knaap MJ, Valk J. Myelin and white matter. Magnetic resonance of myelin, myelination, and myelin disorders2nd edn, MJ van der Knaap, J Valk. Springer, Berlin 1995; 1–17
- Sasaki A, Miyanaga K, Ototsuji M, Iwaki A, Iwaki T, Takahashi S, et al. Two autopsy cases with Pelizaeus-Merzbacher disease phenotype of adult onset, without mutation of proteolipid protein gene. Acta Neuropathol 2000; 99: 7–13
- Seitelberger F. Neuropathology and genetics of Pelizaeus-Merzbacher disease. Brain Pathol 1995; 5: 267–73
- Koeppen A, Robitaille Y. Pelizaeus-Merzbacher disease. J Neuropathol Exp Neurol 2002; 61: 747–59