Article
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).
European journal of human genetics : EJHG - 1 Sept 2010
Schlipf Nina A, Beetz Christian, Schüle Rebecca, Stevanin Giovanni, Erichsen Anne Kjersti, Forlani Sylvie, Zaros Cécile, Karle Kathrin, Klebe Stephan, Klimpe Sven, Durr Alexandra, Otto Susanne, Tallaksen Chantal M E, Riess Olaf, Brice Alexis, Bauer Peter, Schöls Ludger
Abstract excerpt
The most frequent causes of autosomal dominant (AD) hereditary spastic paraplegias (HSP) (ADHSP) are mutations in the SPAST gene (SPG4 locus). However, roughly 60% of patients are negative for SPAST mutations, despite their family history being compatible with AD inheritance. A mutation in the gene for an acetyl-CoA transporter (SLC33A1) has recently been reported in one Chinese family to cause ADHSP-type SPG42....
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