Novel mutation in the SPAST gene in a patient with spastic paraparesis
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Keywords
Polyneuropathy Hereditary Spastic Paraplegia Spastic Paraparesis Nonsense Mediate Decay Axonal Polyneuropathy
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References
- 1.Fink JK (2003) Hereditary spastic paraplegia: nine genes and counting. Arch Neurol 60:1045–1049PubMedCrossRefGoogle Scholar
- 2.Mannan AU, Krawen P, Sauter SM, et al. (2006) ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia. Am J Hum Genet 79:351–357PubMedCrossRefGoogle Scholar
- 3.Fonknechten N, Mavel D, Byrne P, et al. (2000) Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet 9:637–644PubMedCrossRefGoogle Scholar
- 4.Brugman F, Wokke JH, Scheffer H, et al. (2005) Spastin mutations in sporadic adult-onset upper motor neuron syndromes. Ann Neurol 58:865–869PubMedCrossRefGoogle Scholar
- 5.Nicholas AP, O'Hearn E, Holmes SE, Chen DT, Margolis RL (2004) Clinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutation. Mov Disord 19:641–648PubMedCrossRefGoogle Scholar
- 6.Schulte T, Miterski B, Bornke C, et al. (2004) Neurophysiological findings in SPG4 patients differ from other types of spastic paraplegia. Neurology 60:1529–1532Google Scholar
- 7.Coutinho P, Barros J, Zemmouri R, et al. (1999) Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families. Arch Neurol 56:943–949PubMedCrossRefGoogle Scholar
- 8.Orlacchio A, Kawarai T, Gaudiello F, et al. (2005) Clinical and genetic study of a large SPG4 Italian family. Mov Disord 20:1055–1059PubMedCrossRefGoogle Scholar
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