Ataxien

Lernziele

Nach Studium dieses Artikels sollte der Lesende einen Überblick bekommen über die Klassifikation der Ataxien in erbliche, nicht-erbliche (degenerative, idiopathische und sporadische Formen) sowie symptomatische Formen. Grundzüge von Klinik, Diagnostik, Genetik und (meist nur symptomatischer) Therapie sollen vermittelt werden.

Literatur

• 1 Abele M, Bürk K, Schöls L, Schwartz S, Besenthal I, Dichgans J. et al . The etiology of sporadic adult-onset ataxia.  Brain. 2002;  125 961-968
• 2 Baloh R W, Jen J C. Episodic Ataxia Type 2 and Spinocerebellar Ataxia Type 6.  In: Klockgether T. Handbook of ataxia disorders. New York: Dekker 2000: 447-467
• 3 Barbot C. et al . Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.  Arch Neurol. 2001;  58 201-205
• 4 Ben Hamida M, Belal S, Sirugo G. et al . Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families.  Neurology. 1993;  43 2179-2183
• 5 Boel M, Casaer P. Familial periodic ataxia responsive to flunarizine.  Neuropediatrics. 1988;  19 218-220
• 6 Botez M I, Botez-Marquard T, Elie R, Pedraza O L, Goyette K, Lalonde R. Amantadine hydrochloride treatment in heredodegenerative ataxias: A double blind study.  J Neurol Neurosurg Psychiatry. 1996;  61 259-264
• 7 Bouchard J P. et al . Autosomal recessive spastic ataxia Charlevoix-Saguenay.  Neuromusc Disord. 1998;  8 474-479
• 8 Butterworth R F. Pathophysiology of alcoholic brain damage: synergistic effects of ethanol, thiamine deficiency and alcoholic liver disease.  Metab Brain Dis. 1995;  10 1-8
• 9 Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C. et al . Clinical and genetic abnormalities in patients with Friedreich's ataxia.  N Engl J Med. 1996;  335 1169-1175
• 10 Filla A, De Michele G, Marconi R, Bucci L, Carillo C, Castellano A E. et al . Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy.  J Neurol. 1992;  239 351-353
• 11 Gilman S, Low P A, Quinn N, Albanese A, Ben-Shlomo Y, Fowler C J. et al . Consensus statement on the diagnosis of multiple system atrophy.  J Auton Nerv Syst. 1998;  74 189-192
• 12 Griggs R C, Moxley R T, Lafrance R A, McQuillen J. Hereditary paroxysmal ataxia: response to acetazolamide.  Neurology. 1978;  28 1259-1264
• 13 Hadjivassiliou M, Boscolo S, Davies-Jones G, Grünewald R, Not T, Sanders D. et al . The humoral response in the pathogenesis of gluten ataxia.  Neurology. 2002;  58 1221-1226
• 14 Hadjivassiliou M, Grünewald R, Sharrack B, Sanders D, Lobo A, Williamson C. et al . Gluten ataxia in perspective: epidemiology, genetic susceptibility and clinical characteristics.  Brain. 2003;  126 685-691
• 15 Hausse A O, Aggoun Y, Bonnet D, Sidi D, Munnich A, Rotig A, Rustin P. Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia.  Heart. 2002;  87 346-349
• 16 Jen J C, Yeu Q, Karrim J, Nelson S F, Baloh R W. Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide-responsive episodic ataxia.  J Neurol Neurosurg Psychiatry. 1998;  65 565-568
• 17 Klockgether T, Wüllner U, Spauschus A, Evert B. The molecular biology of the autosomal-dominant cerebellar ataxias.  Mov Disord. 2000;  15 604-612
• 18 Klockgether T, Döller G, Wüllner U, Petersen D, Dichgans J. Cerebellar encephalitis in adults.  J Neurol. 1993;  240 17-20
• 19 Klockgether T. Ataxien. In: Diener HC. Leitlinien für Diagnostik und Therapie in der Neurologie, 2. Auflage. Stuttgart: Thieme 2003: 89-95
• 20 Klockgether T. Erbliche und nicht erbliche Ataxien.  In: Brandt T, Dichgans J, Diener HC. Therapie und Verlauf neurologischer Erkrankungen. 4. Auflage. Kohlhammer 2003: 1027-1039
• 21 Kohlschuetter A. Abetalipoproteinämie.  In: Klockgether T. Handbook of ataxia disorders. New York: Dekker 2000: 205-221
• 22 Koskinen T, Santavuori P, Sainio K. et al . Infantile onset spinocerebellar ataxia with sensory neuropathy - a new inherited disease.  J Neurol Sci. 1994;  121 50-56
• 23 LeBer I, Moreira M C, Rivaud-Péchoux S, Chamayou C, Ochsner F, Kuntzer T. et al . Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.  Brain. 2003;  126 2761-2772
• 24 Leitersdorf E, Reshef A, Meiner V, Levitzki R, Schwartz S P, Dann E J. et al . Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin.  J Clin Invest. 1993;  91 2488-2496
• 25 Leone M, Bottachi E, Dálessandro G. et al . Hereditary ataxias and paraplegias in Valle d'Aosta, Italy: a study of prevalence and disability.  Acta Neurol Scand. 1995;  91 183-187
• 26 Lou J S, Goldfarb L, McShane L, Gatev P, Hallett M. Use of buspirone for treatment of cerebellar ataxia - An open-label study.  Arch neurol. 1995;  52 982-988
• 27 Martinello F, Fardin P, Ottina M, Ricchieri G L, Koenig M, Cavalier L, Trevisan C P. Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia.  J Neurol Sci. 1998;  156 177-179
• 28 Moreira M C, Barbot C, Tachi N, Kozuka N, Uchida E, Gibson T. et al . The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.  Nat Genet. 2001;  29 189-193
• 29 Nitschke M F, Hahn C, Melchert U H, Handels H, Wessel K. Activation of the cerebellum by sensory finger stimulation and by finger opposition movements: A functional magnetic resonance imaging study.  J Neuroimaging. 1998;  8 127-131
• 30 Nitschke M F, Kleinschmidt A, Wessel K, Frahm J. Somatotopic organization of the human anterior cerebellum as detected by functional magnetic resonance neuroimaging.  Brain. 1996;  119 1023-1029
• 31 Nystuen A, Benke P J, Merren J, Stone E M, Sheffield V C. A cerebellar ataxia identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands.  Hum Mol Genet. 1996;  5 525-531
• 32 Ouahchi K, Arita M, Kayden H. et al . Ataxia with isolated vitamin E deficiency is caused by mutations in the α-tocopherol transfer protein.  Nature Genet. 1995;  9 141-145
• 33 Peynet J, Laurent A, de Liege P, Lecoz P, Gambert P, Legrand A. et al . Cerebrotendinous xanthomatosis: treatment with simvastatin, lovastatin, and chenodeoxycholic acid in 3 siblings.  Neurology. 1991;  41 434-436
• 34 Polo J M, Calleja J, Combarros O, Berciano J. Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological study.  Brain. 1991;  114 85-866
• 35 Rötig A, de Lonlay P, Chretien D, Foury F, Koenig M, Sidi D. et al . Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.  Nature Genet. 1997;  7 25-217
• 36 Schöls L, Rieß O. Spinozerebelläre Erkrankungen. Sowie: Autosomal-rezessiv und x-chromosomal vererbte Ataxien.  In: Rieß O, Schöls L. Neurogenetik, 2. Auflage. Kohlhammer Verlag 2002: 367 - 385 sowie-398 - 407
• 37 Schrag A, Ben Shlomo Y, Quinn N P. Prevalence of progressive supranuclear palsy and multiple system atrophy: a cross-sectional study.  Lancet. 1999;  354 1771-1775
• 38 Schulz J B, Dehmer T, Schöls L, Mende H, Hardt C, Vorgerd M. et al . Oxidative stress in patients with Friedreich ataxia.  Neurology. 2000;  55 1719-1721
• 39 Trouillas P, Serratrice G, Laplane D, Rascol A, Augustin P, Barroche G. et al . Levorotatory form of 5-hydroxytryptophan in Friedreich's ataxia: Results of a double-blind drug-placebo cooperative study.  Arch Neurol. 1995;  52 456-460
• 40 Trouillas P, Xie J, Adeleine P, Michel D, Vighetto A, Honnorat J. et al . Buspirone, a 5-hydroxytryptamine 1a agonist, is active in cerebellar ataxia - Results of a double-blind drug-placebo study in patients with cerebellar cortical atrophy.  Arch Neurol. 1997;  54 749-752
• 41 Warrenburg B P van de, Sinke R J, Verschuuren-Bemelmans C C, Scheffer H, Brunt E R, Ippel P F. et al . Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.  Neurology. 2002;  58 702-708
• 42 Wenning G K, Ben Shlomo Y, Magalhaes M, Daniel S E, Quinn N P. Clinical features and natural history of multiple system atrophy. An analysis of 100 cases.  Brain. 1994;  117 835-845
• 43 Wessel K, Schroth G, Diener H C, Müller-Forell W, Dichgans J. Significance of MRI-confirmed atrophy of the cervical cord in Friedreich's ataxia.  Eur Arch Psychiatr Neurol Sci. 1989;  238 225-230
• 44 Wessel K, Hermsdörfer J, Deger K, Herzog Th, Huss G P, Kömpf D, Mai N, Schimrigk K, Wittkämper A, Ziegler W. Double-blind crossover study with levorotatory form of hydroxytryptophan in patients with degenerative cerebellar diseases.  Arch Neurol. 1995;  52 451-455
• 45 Wessel K. Degenerative Ataxien.  In: Berlit P. Klinische Neurologie. Springer 1999: 934-945
• 46 Yabe I, Sasaki H, Yamashita I, Takei A, Tashiro K. Clinical trial of acetazolamide in SCA6, with assessment using the ataxia rating scale and body stabilometry.  Acta Neurol Scand. 2001;  104 44-47
• 47 Yokota T, Shiojiri T, Gotoda T. et al . Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the α-tocopherol transfer protein gene.  Ann Neurol. 1997;  41 826-832