List of Case Reports Excluded from the Analysis

List of cases excluded from the analysis

a) case series without individual clinical data: van der Knaap MS, Naidu S, Breiter SN, et al. Alexander disease: diagnosis with MR imaging. Am J Neuroradiol 2001;22:541-542. b) age at onset below 2 years: Neal JW, Cave EM, Singhrao SK, Cole G, Wallace SJ. Alexander’s disease in infancy and childhood: a report of two cases. Acta Neuropathol 1992;84(3):322-7. Inamura A, Orij KE, Mizuno S, Hoshi H, Kondo T. MR imaging and H-MR spectroscopy in a case of juvenile Alexander disease. Brain & Development 2002;24:723-726. c) insufficient or lack of clinical data: Herndon RM, Rubinstein LJ, Freeman JM, Mathieson G. Light and electron microscope observations on Rosenthal fibers in Alexander’s disease and in multiple sclerosis. J Neuropathol Exp Neurol 1970;29:524-551. Case n. 3. Brenner M, Johnson AB, Boesflug-Tanguy O, Rodriguez D, Goldman JE, Messing A. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet 2001;27(1):117-20. Case n. 2. Duckett S, Schwartzmann RJ, Osterholm J, Rorke LB, Friedman D, McLellan TL. Biopsy diagnosys of familial Alexander’s disease. Pediatr Neurosurg 1992;18:134- 138. Case n. 2. Hirayama T, Fukae J, Noda K, et al. Adult-onset Alexander disease with palatal myoclonus and intraventricular tumour. Eur J Neurol 2008;15(2):e16-7. Case n. 2. Herndon RM, Rubinstein LJ. Leukodystrophy with Rosenthal fibers (Alexander’s disease): a histochemical and electron microscopic study. Neurology 1968;18:300 (Abstract). Castellani RJ, Perry G, Harris PLR, Monnier VM, Cohen ML, Smith MA. Advanced glycation modification of Rosenthal fibers in patients with Alexander disease. Neuroscience letters 1997;231:79-82. Murty OP, Keinseong M, Gopinath N, Wong KT. Choking on food. A rare case of Alexander leukodystrophy and choking. Am J Forensic Med Pathol 2008;29:364- 367. van der Voorn JP, Pouwels PJ, Salomons GS, Barkhof F, van der Knaap MS. Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter. Neuroradiology 2009; in press: Epub 2009 May 30. d) cases without neuropathological or genetic confirmation: Li R, Johnson AB, Salomons G, et al. Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Ann Neurol 2005;57(3):310-326. Case n. 44. Grodd W, Krageloh-Mann I, Klose U, Sauter R. Metabolic and destructive brain disorders in children: findings with localized proton MR spectroscopy. Radiology 1991;181:173-181. Takanashi J, Sugita K, Tanabe Y, Niimi H. Adolescent case of Alexander disease: MR imaging and MR spectroscopy. Pediatr Neurol 1998;18:67-70. Springer S, Erlewein R, Naegele T, Becker I, Auer D, Grodd W, Krägeloh-Mann I. Alexander disease – classification revisited and isolation of a neonatal form. Neuropediatrics 2000;31:86-92. Case n. 6. Ozturk C, Tezer M, Karatoprak O, Hamzaoglu A. A rare cause of neuromuscular scoliosis: Alexander disease. Joint Bone Spine 2009;76(2):195-7. e) uncertain diagnosis: Goebel HH, Bode G, Caesar R, Kohlschütter A. Bulbar palsy with Rosenthal fiber formation in the medulla of a 15-year-old girl. Localized form of Alexander’s disease? Neuropediatrics 1981;12:382-391. Huttner HB, Richter G, Hildebrandt M, et al. 2007. Acute onset of fatal vegetative symptoms: unusual presentation of adult Alexander disease. Eur J Neurol 14:1251- 1255.