Das Refsum-Syndrom

Melden Sie sich bitte hier kostenlos und unverbindlich an, um den Inhalt vollständig einzusehen und weitere Services von www.medmedia.at zu nutzen.

Zur Anmeldung

AutorIn: Univ.-Prof. DDr. Josef Finsterer

Neurologische Abteilung, Krankenanstalt Rudolfstiftung, Wien

1 Busanello EN et al., Marked inhibition of Na+, K(+)- ATPase activity and the respiratory chain by phytanic acid in cerebellum from young rats: possible underlying mechanisms of cerebellar ataxia in Refsum disease. J Bioenerg Biomembr 2013; 45:137–44
2 Zolotov D et al., Long-term strategies for the treatment of Refsum’s disease using therapeutic apheresis. J Clin Apher 2012; 27:99–105
3 Aubourg P, Wanders R, Peroxisomal disorders. Handb Clin Neurol 2013; 113:1593–609
4 Wanders RJ et al., Phytanic acid metabolism in health and disease. Biochim Biophys Acta 2011; 1811:498–507
5 Wanders RJ, Komen JC. Peroxisomes, Refsum’s disease and the alpha- and omega-oxidation of phytanic acid. Biochem Soc Trans 2007; 35:865–9
6 Leipnitz G et al., Neurochemical evidence that phytanic acid induces oxidative damage and reduces the antioxidant defenses in cerebellum and cerebral cortex of rats. Life Sci 2010; 87:275-80
7 Reiser G et al., Mechanism of toxicity of the branched-chain fatty acid phytanic acid, a marker of Refsum disease, in astrocytes involves mitochondrial impairment. Int J Dev Neurosci 2006; 24:113–22
8 Kahlert S et al., The Refsum disease marker phytanic acid, a branched chain fatty acid, affects Ca2+ homeostasis and mitochondria, and reduces cell viability in rat hippocampal astrocytes. Neurobiol Dis 2005; 18:110–8
9 Horn MA et al., Phenotype of adult Refsum disease due to a defect in peroxin 7. Neurology 2007; 68:698–700
10 Verny C et al., Refsum’s disease may mimic familial Guillain Barré syndrome. Neuromuscul Disord 2006; 16:805–8
11 Pakzad-Vaezi KL, Maberley DA, Infantile refsum disease in a young adult: case presentation and brief review. Retin Cases Brief Rep 2014; 8:56–9
12 Tran D et al., Infantile refsum disease with enamel defects: a case report. Pediatr Dent 2011; 33:266–70
13 Cervós-Navarro J, Heredopathia atactica polyneuritiformis (Refsum’s disease). Histol Histopathol 1990; 5:439–50
14 Menon GK et al., Ultrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization. Arch Dermatol Res 2014; 306:731–7
15 Gibberd FB et al., Smell testing: an additional tool for identification of adult Refsum’s disease. J Neurol Neurosurg Psychiatry 2004; 75:1334–6
16 Kuntzer T et al., Quantitative EMG analysis and longitudinal nerve conduction studies in a Refsum’s disease patient. Muscle Nerve 1993; 16:857–63
17 Lou JS et al., Refsum’s disease: long term treatment preserves sensory nerve action potentials and motor function. J Neurol Neurosurg Psychiatry 1997; 62:671–2
18 Baldwin EJ et al., The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease. J Neurol Neurosurg Psychiatry 2010; 81:954–7
19 Kohlschütter A et al., A child with night blindness: preventing serious symptoms of Refsum disease. J Child Neurol 2012; 27:654–6
20 Nogueira C et al., Refsum’s disease and cochlear implantation. Ann Otol Rhinol Laryngol 2014; 123:425–7

neuro 04|2014

Herausgeber: Österreichische Gesellschaft für Neurologie, Univ.-Prof. Dr. Reinhold Schmidt, Präsident der ÖGN
Publikationsdatum: 2014-12-18