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Published in: Journal of Neurology 7/2011

01-07-2011 | Letter to the Editors

Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation

Authors: Antonio Orlacchio, Pasqua Montieri, Carla Babalini, Fabrizio Gaudiello, Giorgio Bernardi, Toshitaka Kawarai

Published in: Journal of Neurology | Issue 7/2011

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Excerpt

Dear Sirs, …
Literature
1.
go back to reference Zhao X, Alvarado D, Rainier S et al (2001) Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet 29:326–331PubMedCrossRef Zhao X, Alvarado D, Rainier S et al (2001) Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet 29:326–331PubMedCrossRef
2.
go back to reference Namekawa M, Ribai P, Nelson I et al (2006) SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology 66:112–114PubMedCrossRef Namekawa M, Ribai P, Nelson I et al (2006) SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology 66:112–114PubMedCrossRef
3.
go back to reference Schüle R, Holland-Letz T, Klimpe S et al (2006) The spastic paraplegia rating scale (SPRS): a reliable and valid measure of disease severity. Neurology 67:430–434PubMedCrossRef Schüle R, Holland-Letz T, Klimpe S et al (2006) The spastic paraplegia rating scale (SPRS): a reliable and valid measure of disease severity. Neurology 67:430–434PubMedCrossRef
4.
go back to reference Wechsler D (1981) WAIS-R manual: Wechsler Adult Intelligence Scale—Revised. Psychological Corporation, New York Wechsler D (1981) WAIS-R manual: Wechsler Adult Intelligence Scale—Revised. Psychological Corporation, New York
5.
go back to reference Orlacchio A, Patrono C, Gaudiello F et al (2008) Silver syndrome variant of hereditary spastic paraplegia: a locus to 4p and allelism with SPG4. Neurology 70:1959–1966PubMedCrossRef Orlacchio A, Patrono C, Gaudiello F et al (2008) Silver syndrome variant of hereditary spastic paraplegia: a locus to 4p and allelism with SPG4. Neurology 70:1959–1966PubMedCrossRef
6.
go back to reference Sanderson CM, Connell JW, Edwards TL et al (2006) Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners. Hum Mol Genet 15:307–318PubMedCrossRef Sanderson CM, Connell JW, Edwards TL et al (2006) Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners. Hum Mol Genet 15:307–318PubMedCrossRef
7.
go back to reference Sauter SM, Engel W, Neumann LM et al (2004) Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. Hum Mutat 23:98PubMedCrossRef Sauter SM, Engel W, Neumann LM et al (2004) Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. Hum Mutat 23:98PubMedCrossRef
8.
go back to reference 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 56:943–949PubMedCrossRef 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 56:943–949PubMedCrossRef
9.
go back to reference Salinas S, Proukakis C, Crosby A, Warner TT (2008) Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol 7:1127–1138PubMedCrossRef Salinas S, Proukakis C, Crosby A, Warner TT (2008) Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol 7:1127–1138PubMedCrossRef
10.
go back to reference Boukhris A, Feki I, Elleuch N et al (2010) A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum. Neurogenetics 11:441–448PubMedCrossRef Boukhris A, Feki I, Elleuch N et al (2010) A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum. Neurogenetics 11:441–448PubMedCrossRef
11.
go back to reference Orlacchio A, Gaudiello F, Totaro A et al (2004) A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts. Neurology 62:1875–1878PubMed Orlacchio A, Gaudiello F, Totaro A et al (2004) A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts. Neurology 62:1875–1878PubMed
12.
go back to reference Orlacchio A, Kawarai T, Totaro A et al (2004) Hereditary spastic paraplegia: clinical genetic study of 15 families. Arch Neurol 61:849–855PubMedCrossRef Orlacchio A, Kawarai T, Totaro A et al (2004) Hereditary spastic paraplegia: clinical genetic study of 15 families. Arch Neurol 61:849–855PubMedCrossRef
Metadata
Title
Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation
Authors
Antonio Orlacchio
Pasqua Montieri
Carla Babalini
Fabrizio Gaudiello
Giorgio Bernardi
Toshitaka Kawarai
Publication date
01-07-2011
Publisher
Springer-Verlag
Published in
Journal of Neurology / Issue 7/2011
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-011-5934-z

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