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Neurogenetics
Published in: neurogenetics 3/2008

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

Authors: 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

Published in: Neurogenetics | Issue 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. …
Literature
1.
Zatz M, Penha-Serrano C, Otto PA (1976) X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg. J Med Genet 13:217–222CrossRefPubMedPubMedCentral
2.
Starling A, Rocco P, Cambi F, Hobson GM, Passos Bueno MR, Zatz M (2002) Further evidence for a fourth gene causing X-linked pure spastic paraplegia. Am J Med Genet 111:152–156CrossRefPubMed
3.
Krantic S, Mechawar N, Reix S, Quirion R (2007) Apoptosis-inducing factor: a matter of neuron life and death. Prog Neurobiol 81(3):179–196 FebCrossRefPubMed
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Kobayashi H, Hoffman EP, Marks HG (1994) The rumpshaker mutation in spastic paraplegia. Nat Genet 7(3):351–352, JulCrossRefPubMed
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Fink JK (2003) The hereditary spastic paraplegias. Nine genes and counting. Arch Neurol 60:1045–1049CrossRefPubMed
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Tamagaki A, Shima M, Tomita R, Okumura M, Shibata M, Morichika S, Kurahashi H, Giddings JC, Yoshioka A, Yokobayashi Y (2000) Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2. Am J Med Genet 94:5–8CrossRefPubMed
Metadata
Title
Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25
Authors
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
Publication date
01-07-2008
Publisher
Springer Berlin Heidelberg
Published in
Neurogenetics / Issue 3/2008
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI
https://doi.org/10.1007/s10048-008-0130-8

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