Acute onset of adult Alexander disease

Journal of the Neurological Sciences

Volumn 331, Issue 1-2, 2013, Pages 152-154

  Schmidt, Holger ^a   Kretzschmar, Benedikt ^a   Lingor, Paul ^a   Pauli, Silke ^a   Schramm, Peter ^a   Otto, Markus ^b   Ohlenbusch, Andreas ^c   Brockmann, Knut ^d  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b UNIVERSITY OF ULM   (Germany)

^c UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^d Elbe Kliniken   (Germany)

Author keywords

Acute onset; Adult onset Alexander disease; Brainstem; GFAP; Leukoencephalopathy; Stroke

Indexed keywords

ALBUMIN; LACTIC ACID; NEURON SPECIFIC ENOLASE; PROTEIN 14 3 3;

ADULT; ADULT ONSET ALEXANDER DISEASE; ALEXANDER DISEASE; ARTICLE; ARTIFICIAL VENTILATION; BASAL GANGLION; BRAIN ATROPHY; BULBAR PARALYSIS; CASE REPORT; CEREBELLUM; CEREBRAL PEDUNCLE; CEREBROVASCULAR ACCIDENT; CERVICAL SPINAL CORD; CLINICAL FEATURE; DENTATE NUCLEUS; DYSARTHRIA; DYSPHAGIA; DYSPNEA; EGO DEVELOPMENT; EMERGENCY WARD; ENDOTRACHEAL INTUBATION; EXON; FOLLOW UP; FRONTAL LOBE; GENE DUPLICATION; GENETIC COUNSELING; HUMAN; INTENSIVE CARE; LACTATE BLOOD LEVEL; MALE; MEDULLA OBLONGATA; MENTAL PERFORMANCE; MUSCLE STRETCHING; MUSCLE TONE; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PERCUTANEOUS ENDOSCOPIC GASTROSTOMY; PHYSIOTHERAPY; PRIORITY JOURNAL; QUADRIPLEGIA; RARE DISEASE; RIGIDITY; SPASTICITY; TRACHEOBRONCHIAL TOILET; TRACHEOSTOMY; WALKER; WHITE MATTER;

EID: 84882454631     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2013.05.006     Document Type: Article

References (13)

1. Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet 2001;27:117-20.
2. van der Knaap MS, Naidu S, Breiter SN, Blaser S, Stroink H, Springer S, et al. Alexander disease: diagnosis with MR imaging. AJNR Am J Neuroradiol 2001;22: 541-52.
3. van der Knaap MS, Salomons GS, Li R, Franzoni E, Gutiérrez-Solana LG, Smit LM, et al. Unusual variants of Alexander's disease. Ann Neurol 2005;57:327-38.
4. Pareyson D, Fancellu R, Mariotti C, Romano S, Salmaggi A, Carella F, et al. Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. Brain 2008;131:2321-31.
5. Schmidt S, Wattjes MP, Gerding WM, van der Knaap M. Late onset Alexander's disease presenting as cerebellar ataxia associated with a novel mutation in the GFAP gene. J Neurol 2011;258:938-40.
6. Balbi P, Salvini S, Fundarò C, Frazzitta G, Maestri R, Mosah D, et al. The clinical spectrum of late-onset Alexander disease: a systematic literature review. J Neurol 2010;257:1955-62.
7. Huttner HB, Richter G, Hildebrandt M, Blümcke I, Fritscher T, Brück W, et al. Acute onset of fatal vegetative symptoms: unusual presentation of adult Alexander disease. Eur J Neurol 2007;14:1251-5.
8. Ayaki T, Shinohara M, Tatsumi S, Namekawa M, Yamamoto T. A case of sporadic adult Alexander disease presenting with acute onset, remission and relapse. J Neurol Neurosurg Psychiatry 2010;81:1292-3.
9. Namekawa M, Takiyama Y, Aoki Y, Takayashiki N, Sakoe K, Shimazaki H, et al. Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease. Ann Neurol 2002;52:779-85.
10. Namekawa M, Takiyama Y, Honda J, Shimazaki H, Sakoe K, Nakano I. Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature. BMC Neurol 2010;10:21.
11. Li R, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, et al. Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Ann Neurol 2005;57:310-26.
12. van der Knaap MS, Ramesh V, Schiffmann R, Blaser S, Kyllerman M, Gholkar A, et al. Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord. Neurology 2006;66:494-8.
13. Messing A, Li R, Naidu S, Taylor JP, Silverman L, Flint D, et al. Archetypal and new families with Alexander disease and novel mutations in GFAP. Arch Neurol 2012;69:208-14.