Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25

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...

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Veröffentlicht in:	Neurogenetics 2008-07, Vol.9 (3), p.225-226, Article 225
Hauptverfasser:	Macedo-Souza, Lúcia Inês, Kok, Fernando, Santos, Silvana, Licinio, Luciana, Lezirovitz, Karina, Nascimento, Rafaella M. P., Bueno, Clarissa, Martyn, Marcília, Leão, Emília K. E. A., Zatz, Mayana
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Biomedical and Life Sciences Biomedicine Case studies Chromosomes, Human, X - genetics Families & family life Female Genes, Recessive Genes, X-Linked Genetic Diseases, X-Linked - genetics Genetic disorders Haplotypes Human Genetics Humans Letter to the Editors Male Middle Aged Molecular Medicine Neurology Neurosciences Paralysis Paraplegia - genetics Pedigree Young Adult
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Zusammenfassung:	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. [PUBLICATION ABSTRACT]
ISSN:	1364-6745 1364-6753
DOI:	10.1007/s10048-008-0130-8