Erschienen in:
01.07.2008 | Letter to the Editors
Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25
verfasst von:
Lúcia Inês Macedo-Souza, Fernando Kok, Silvana Santos, Luciana Licinio, Karina Lezirovitz, Rafaella M. P. Nascimento, Clarissa Bueno, Marcília Martyn, Emília K. E. A. Leão, Mayana Zatz
Erschienen in:
Neurogenetics
|
Ausgabe 3/2008
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Excerpt
Herein, we report a new
locus, named SPG34, for a pure form of X-linked hereditary spastic paraplegia (HSP) in a large Brazilian family followed by our group since 1976 [
1]. In 2002, a study of seven patients suggested linkage to Xq22.2 [
2]. We now were able to perform a more comprehensive clinical and molecular evaluation, including five patients not previously ascertained, and reassigned the putative locus to Xq25. …