Sporadic ataxia with adult onset: classification and diagnostic criteria

作者: Thomas Klockgether

DOI: 10.1016/S1474-4422(09)70305-9

关键词: Superficial siderosisSerologyChronic alcoholProgressive ataxiaDegenerative diseasePathologyMedicineAtrophyAge of onsetAtaxia

摘要: Summary In most patients with adult-onset progressive ataxia, the condition manifests without an obvious familial background. The classification and correct diagnosis of such remain a challenge, because almost entire spectrum non-genetic genetic causes ataxia has to be considered. A wide range potential acquired exist, including chronic alcohol use, various other toxic agents, immune-mediated inflammation, vitamin deficiency, leptomeningeal deposition iron leading superficial siderosis, CNS infection. Mutations in single genes can also underlie sporadic adults. Finally, might have degenerative disease, as multiple system atrophy cerebellar type or unknown aetiology. definition clinical criteria delineation characteristic MRI features greatly facilitated early recognition ataxias. addition, specific serological markers are available that allow definite many cases.

参考文章(125)
A.E. Harding, "Idiopathic" late onset cerebellar ataxia. A clinical and genetic study of 36 cases. Journal of the Neurological Sciences. ,vol. 51, pp. 259- 271 ,(1981) , 10.1016/0022-510X(81)90104-0
M. Abele, M. Minnerop, H. Urbach, K. Specht, T. Klockgether, Sporadic adult onset ataxia of unknown etiology : a clinical, electrophysiological and imaging study. Journal of Neurology. ,vol. 254, pp. 1384- 1389 ,(2007) , 10.1007/S00415-007-0556-1
Ansgar Torvik, Sverre Torp, The prevalence of alcoholic cerebellar atrophy: a morphometric and histological study of an autopsy material Journal of the Neurological Sciences. ,vol. 75, pp. 43- 51 ,(1986) , 10.1016/0022-510X(86)90049-3
Polly J Bingley, Dsna Pengiran Tengah, John J Ward, Alistair Jk Williams, David J Unsworth, Robert J Lock, Adrian J Wills, Cerebellar ataxia, peripheral neuropathy, "gluten sensitivity" and anti-neuronal autoantibodies. Clinical Laboratory. ,vol. 52, pp. 589- 592 ,(2006)
C. Schulte, M. Synofzik, T. Gasser, L. Schols, ATAXIA WITH OPHTHALMOPLEGIA OR SENSORY NEUROPATHY IS FREQUENTLY CAUSED BY POLG MUTATIONS Neurology. ,vol. 73, pp. 898- 900 ,(2009) , 10.1212/WNL.0B013E3181B78488
C. Mariotti, C. Gellera, M. Rimoldi, R. Mineri, G. Uziel, G. Zorzi, D. Pareyson, G. Piccolo, D. Gambi, S. Piacentini, F. Squitieri, R. Capra, B. Castellotti, S. Di Donato, Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. Neurological Sciences. ,vol. 25, pp. 130- 137 ,(2004) , 10.1007/S10072-004-0246-Z
H. A. Kwakwa, Primary cerebellar degeneration and HIV. JAMA Internal Medicine. ,vol. 161, pp. 1555- 1556 ,(2001) , 10.1001/ARCHINTE.161.12.1555
Alisdair McNeill, Massimo Pandolfo, Jens Kuhn, Huifang Shang, Hiroaki Miyajima, The neurological presentation of ceruloplasmin gene mutations. European Neurology. ,vol. 60, pp. 200- 205 ,(2008) , 10.1159/000148691
Carolyn F. Orr, J. Eric Ahlskog, Frequency, characteristics, and risk factors for amiodarone neurotoxicity. JAMA Neurology. ,vol. 66, pp. 865- 869 ,(2009) , 10.1001/ARCHNEUROL.2009.96
Sébastien Jacquemont, Randi J Hagerman, Maureen Leehey, Jim Grigsby, Lin Zhang, James A Brunberg, Claudia Greco, Vincent Des Portes, Tristan Jardini, Richard Levine, Elizabeth Berry-Kravis, W Ted Brown, Stephane Schaeffer, John Kissel, Flora Tassone, Paul J Hagerman, None, Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates American Journal of Human Genetics. ,vol. 72, pp. 869- 878 ,(2003) , 10.1086/374321