The clinical spectrum of late-onset Alexander disease: A systematic literature review

Journal of Neurology

Volumn 257, Issue 12, 2010, Pages 1955-1962

  Balbi, Pietro ^a   Salvini, Silvana ^a   Fundarò, Cira ^a   Frazzitta, Giuseppe ^a   Maestri, Roberto ^a   Mosah, Dibo ^a   Uggetti, Carla ^b   Sechi, Gianpietro ^c  

^a IRCCS   (Italy)

^b C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^c UNIVERSITY OF SASSARI   (Italy)

Author keywords

Alexander disease; Diagnostic criteria; GFAP; Nosology; Systematic review

Indexed keywords

ACUTE RESPIRATORY FAILURE; ADULT; ALEXANDER DISEASE; ATAXIA; AUTONOMIC DYSFUNCTION; BASAL GANGLION HEMORRHAGE; BRAIN ATROPHY; BRAIN VENTRICLE DILATATION; CERVICAL SPINAL CORD; CLINICAL FEATURE; DISEASE CLASSIFICATION; DYSARTHRIA; DYSPHAGIA; DYSPHONIA; EPILEPTIC STATE; GAIT DISORDER; GENETICS; HEADACHE; HUMAN; INFORMATION PROCESSING; KYPHOSIS; LIMB WEAKNESS; LUNG EMBOLISM; MALNUTRITION; NEUROIMAGING; NEUROPATHOLOGY; OCULOMOTOR NERVE DISEASE; ONSET AGE; PHENOTYPE; PNEUMONIA; PRIORITY JOURNAL; RADIOLOGICAL PARAMETERS; REVIEW; SCOLIOSIS; SEIZURE; SLEEP DISORDER; SPASTICITY; SUDDEN DEATH; SYSTEMATIC REVIEW; TOPOGRAPHY; VOMITING; WEIGHT REDUCTION;

ADOLESCENT; ADULT; AGE OF ONSET; ALEXANDER DISEASE; GLIAL FIBRILLARY ACIDIC PROTEIN; HUMANS; INFANT, NEWBORN; MUTATION;

EID: 78651232057     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-010-5706-1     Document Type: Review

References (47)

1. WS Alexander 1949 Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant Brain 72 373 381 1:STN:280:DyaG3c%2FhvV2jsg%3D%3D 10.1093/brain/72.3.373 15409268
2. P Balbi M Seri I Ceccherini C Uggetti R Casale C Fundarò F Caroli L Santoro 2008 Adult-onset Alexander disease. Report on a family J Neurol 255 24 30 1:CAS:528:DC%2BD1cXosValtrc%3D 10.1007/s00415-007-0654-0 18004641
3. M Brenner AB Johnson O Boesflug-Tanguy D Rodriguez JE Goldman A Messing 2001 Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease Nat Genet 27 117 120 1:CAS:528:DC%2BD3MXis1yrtQ%3D%3D 10.1038/87020 11138011 (Pubitemid 32044531)
4. Brenner M, Goldman JE, Quinlan RA, Messing A (2009) Alexander disease: a genetic disorder of astrocytes. In: Parpura V, Haydon P (eds) Astrocytes in (patho)physiology of the nervous system. Springer, New York, pp 591-648
5. K Brockmann M Meins A Taubert R Trappe M Grond F Hanefeld 2003 A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease? Eur Neurol 50 100 105 10.1159/000072507 12944715 (Pubitemid 37116971)
6. BA Brody HC Kinney AS Kloman FH Gilles 1987 Sequence of central nervous system myelination in human infancy. 1. An autopsy study of myelination J Neuropathol Exp Neurol 46 283 301 1:STN:280:DyaL2s7mvVGgtA%3D%3D 10.1097/00005072-198705000-00005 3559630
7. F Caroli R Biancheri M Seri A Rossi A Pessagno M Bugiani F Corsolini S Savasta S Romano C Antonelli A Romano D Pareyson P Gambero G Uziel R Ravazzolo I Ceccherini M Filocamo 2007 GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease Clin Genet 72 427 433 1:STN:280:DC%2BD2snhtVGnsg%3D%3D 10.1111/j.1399-0004.2007.00869.x 17894839 (Pubitemid 47570696)
8. L Crome 1953 Megalencephaly associated with hyaline pan-neuropathy Brain 76 215 228 1:STN:280:DyaG2c%2Fgt1KhsA%3D%3D 10.1093/brain/76.2.215 13081879
9. L Farina D Pareyson L Minati I Ceccherini L Chiapparini S Romano P Gambaro R Fancellu M Savoiardo 2008 Can MR imaging diagnose adult-onset Alexander disease? AJNR Am J Neuroradiol 29 1190 1196 1:STN:280: DC%2BD1cznsFWgsg%3D%3D 10.3174/ajnr.A1060 18388212 (Pubitemid 351954892)
10. RL Friede 1964 Alexander's disease Arch Neurol 11 414 422 1:STN:280:DyaF2M%2FgtFWjtw%3D%3D 14196734
11. JH Friedman M Ambler 1992 Progressive Parkinsonism associated with Rosenthal fibers: senile-onset Alexander's disease? Neurology 42 1733 1735 1:STN:280:DyaK38zot1Olug%3D%3D 1325040
12. R Garrett RP Ames 1974 Alexander disease: case report with electron microscopical studies and review of the literature Arch Pathol 98 379 385
13. JR Gorospe S Naidu AB Johnson V Puri GV Raymond SD Jenkins RC Pedersen D Lewis P Knowles R Fernandez D De Vivo MS van der Knaap A Messing M Brenner EP Hoffman 2002 Molecular findings in symptomatic and pre-symptomatic Alexander disease patients Neurology 58 1494 1500 1:CAS:528:DC%2BD38XkslSmtrw%3D 12034785
14. RM Herndon LJ Rubinstein JM Freeman G Mathieson 1970 Light and electron microscope observations on Rosenthal fibers in Alexander's disease and in multiple sclerosis J Neuropathol Exp Neurol 29 524 551 1:STN:280: DyaE3M%2FhtVCjtQ%3D%3D 10.1097/00005072-197010000-00002 5471920
15. J Jacob NJ Robertson DA Hilton 2003 The clinicopathological spectrum of Rosenthal fibre encephalopathy and Alexander's disease: a case report and review of the literature J Neurol Neurosurg Psychiatry 74 807 810 1:STN:280: DC%2BD3s3jtFGkuw%3D%3D 10.1136/jnnp.74.6.807 12754360 (Pubitemid 36628302)
16. JJ Kepes DK Ziegler 1972 Alexander's disease in an adult (leukodystrophy with Rosenthal fibers) Missouri Med (Suppl) 69 23 25
17. HC Kinney BA Brody AS Kloman FH Gilles 1988 Sequence of central nervous system myelination in human infancy. 2. Patterns of myelination in autopsied infants J Neuropathol Exp Neurol 47 217 234 1:STN:280:DyaL1c3hsVCjsw%3D%3D 10.1097/00005072-198805000-00003 3367155
18. T Kinoshita T Imaizumi Y Miura H Fujimoto M Ayabe H Shoji Y Okamoto H Takashima M Osame M Nakagawa 2003 A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation Neurosci Lett 350 169 172 1:CAS:528:DC%2BD3sXnvVOjsLg%3D 10.1016/S0304-3940(03)00900-5 14550921 (Pubitemid 37205192)
19. R Li AB Johnson G Salomons JE Goldman S Naidu R Quinlan B Cree SZ Ruyle B Banwell M D'Hooghe JR Siebert CM Rolf H Cox A Reddy LG Gutiérrez-Solana A Collins RO Weller A Messing MS van der Knaap M Brenner 2005 Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease Ann Neurol 57 310 326 10.1002/ana.20406 15732097 (Pubitemid 40343953)
20. AR Mastri JH Sung 1973 Diffuse Rosenthal fiber formation in the adult: report of four cases J Neuropathol Exp Neurol 32 424 436 1:STN:280: DyaE3s3jsFKqsg%3D%3D 10.1097/00005072-197307000-00007 4579660
21. A Messing M Head K Galles EJ Galbreath JE Goldman M Brenner 1998 Fatal encephalopathy with astrocyte inclusions in GFAP transgenic mice Am J Pathol 152 391 398 1:CAS:528:DyaK1cXht1Sqtbk%3D 9466565
22. A Messing M Brenner 2003 Alexander disease: GFAP mutations unify young and old Lancet Neurol 2 75 10.1016/S1474-4422(03)00301-6 12849260 (Pubitemid 37443325)
23. C Mignot O Boespflug-Tanguy A Gelot A Dautigny D Pham-Dinh D Rodriguez 2004 Alexander disease: putative mechanisms of an astrocytic encephalopathy Cell Mol Life Sci 61 369 385 1:CAS:528:DC%2BD2cXjt1yhtbo%3D 10.1007/s00018-003-3143- 3 14770299 (Pubitemid 38223410)
24. M Namekawa Y Takiyama Y Aoki N Takayashiki K Sakoe H Shimazaki T Taguchi Y Tanaka M Nishizawa K Saito Y Matsubara I Nakano 2002 Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease Ann Neurol 52 779 785 1:CAS:528:DC%2BD38Xps1OqsL4%3D 10.1002/ana.10375 12447932 (Pubitemid 35403188)
25. D Pareyson R Fancellu C Mariotti S Romano A Salmaggi F Carella F Girotti G Gattellaro MR Carriero L Farina I Ceccherini M Savoiardo 2008 Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature Brain 131 2321 2331 10.1093/brain/awn178 18684770
26. J Peiffer 1968 Alexander's disease-really a leukodystrophy? Pathol Eur 3 305 312 1:STN:280:DyaF1M%2FjtFajtg%3D%3D 5688466
27. CL Pridmore M Baraitser B Harding SG Boyd B Kendall EM Brett 1993 Alexander's disease: clues to diagnosis J Child Neurol 8 134 144 1:STN:280:DyaK3s3otVeqtQ%3D%3D 10.1177/088307389300800205 8505475
28. JE Riggs SS Schochet J Nelson 1988 Asymptomatic adult Alexander's disease: entity or nosological misconception? Neurology 38 152 154 1:STN:280:DyaL1c%2FpsFSktQ%3D%3D 3336449
29. S Romano M Salvetti I Ceccherini T De Simone M Savoiardo 2007 Brainstem signs with progressing atrophy of medulla oblongata and upper cervical spinal cord Lancet Neurol 6 562 570 10.1016/S1474-4422(07)70129-1 17509491 (Pubitemid 46734773)
30. W Rosenthal 1898 Über eine eigentümliche, mit Syringomyelie komplizierte Geshwulst des Rückenmarks Beitr Pathol Anat 23 111
31. LS Russo Jr A Aron PJ Anderson 1976 Alexander's disease: a report and a reappraisal Neurology 26 607 614 180453
32. SS Schochet PW Lampert KM Earle 1968 Alexander's disease: a case report with electron microscopic observations Neurology 18 543 549 5691014
33. FJ Seil SS Schochet KM Earle 1968 Alexander's disease in an adult: report of a case Arch Neurol 19 494 502 1:STN:280:DyaF1M%2FhtlCntg%3D%3D 5684299
34. RM Sherwin M Berthrong 1970 Alexander's disease with sudanophilic leukodystrophy Arch Pathol 89 321 328 1:STN:280:DyaE3c7ktFyjtw%3D%3D 4190963
35. T Shiihara Y Sawaishi M Adachi M Kato K Hayasaka 2004 Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP J Neurol Sci 225 125 127 1:CAS:528:DC%2BD2cXot1ajs7k%3D 10.1016/j.jns.2004.07.008 15465095 (Pubitemid 39311718)
36. D Soffer DS Horoupian 1979 Rosenthal fibers formation in the central nervous system: its relation to Alexander's disease Acta Neuropathol 47 81 84 1:STN:280:DyaE1M3ivVWlsQ%3D%3D 10.1007/BF00698278 463508
37. LD Stevenson FS Vogel 1952 A case of macrocephaly associated with feeble-mindedness and encephalopathy with peculiar deposit throughout the brain and spinal cord Ciencia 12 71 74
38. E Stumpf H Masson A Duquette F Berthelet J McNabb A Lortie J Lesage J Montplaisir B Brais P Cossette 2003 Adult Alexander disease with autosomal dominant transmission Arch Neurol 60 1307 1312 10.1001/archneur.60.9.1307 12975300 (Pubitemid 37099641)
39. D Thyagarajan T Chataway R Li WP Gai M Brenner 2004 Dominantly-inherited adult-onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene Mov Disord 19 1244 1248 10.1002/mds.20161 15390001 (Pubitemid 39429973)
40. WS Tihen 1972 Central pontine myelinolysis and Rosenthal fibers of the brainstem: association with emaciation and prolonged intravenous hyperalimentation Neurology 22 710 716 1:STN:280:DyaE3s%2FivFahtg%3D%3D 4117115
41. G Ule 1972 Progressive neurogene Muskelatrophie bei neuroaxonaler Distrophie mit Rosenthalschen Fasern Acta Neuropathol 21 332 339 1:STN:280:DyaE3s%2FhsVCjtQ%3D%3D 10.1007/BF00685140 5076139
42. MS van der Knaap S Naidu SN Breiter S Blaser H Stroink S Springer JC Begeer R van Coster PG Barth NH Thomas J Valk JM Powers 2001 Alexander disease: diagnosis with MR imaging Am J Neuroradiol 22 541 542 11237983
43. MS van der Knaap SS Gajja R Li E Franzoni LG Gutiérrez-Solana LM Smit R Robinson CD Ferrie B Cree A Reddy N Thomas B Banwell F Barkhof C Jakobs A Johnson A Messing M Brenner 2005 Unusual variants of Alexander's disease Ann Neurol 57 327 338 10.1002/ana.20381 15732098 (Pubitemid 40343954)
44. MS van der Knaap V Ramesh R Schiffmann S Blaser M Kyllerman A Gholkar DW Ellison JP van der Voorn SJ van Dooren C Jakobs F Barkhof GS Salomons 2006 Alexander disease. Ventricular garlands and abnormalities of the medulla and spinal cord Neurology 66 494 498 10.1212/01.wnl.0000198770.80743.37 16505300 (Pubitemid 43739875)
45. FS Vogel J Hallervorden 1962 Leukodystrophy with diffuse Rosenthal fiber formation Acta Neuropathol 2 126 143 10.1007/BF00685171
46. SP Wilson S Al-Sarraj LR Bridges 1996 Rosenthal fiber encephalopathy presenting with demyelination and Rosenthal fibers in a solvent abuser: adult Alexander's disease? Clin Neuropathol 15 13 16 1:STN:280:DyaK28vgtFCnsw%3D%3D 8998849
47. FJ Wohlwill J Bernstein PI Yakovlev 1959 Dysmyelinogenic leukodystrophy: report of a case of a new, presumably familial type of leukodystrophy with megalobarencephaly J Neuropathol Exp Neurol 18 359 383 1:STN:280: DyaG1M%2FpsFWjtA%3D%3D 10.1097/00005072-195907000-00001 13665382