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Article

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.

Annals of neurology - 1 Dec 2007

Hehr Ute, Bauer Peter, Winner Beate, Schule Rebecca, Olmez Akguen, Koehler Wolfgang, Uyanik Goekhan, Engel Anna, Lenz Daniela, Seibel Andrea, Hehr Andreas, Ploetz Sonja, Gamez Josep, Rolfs Arndt, Weis Joachim, Ringer Thomas M, Bonin Michael, Schuierer Gerhard, Marienhagen Joerg, Bogdahn Ulrich, Weber Bernhard H F, Topaloglu Haluk, Schols Ludger, Riess Olaf, Winkler Juergen

Abstract excerpt

OBJECTIVE: Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of neurodegenerative disorders resulting in progressive spasticity of the lower limbs. One form of autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) was linked to chromosomal region 15q13-21 (SPG11) and associated with mutations in the spatacsin gene. We assessed the long-term course and the...

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Source

Identifiers

PMID: 18067136
DOI: 10.1002/ana.21310

Genes

SPG11

Provenance

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Related research

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Research trail→

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Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.PMID 18067136Read ↗

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.Semantic proximity Read ↗

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.Semantic proximity Read ↗

Novel mutations c.[5121_5122insAG]+[6859C>T] of the SPG11 gene associated with cerebellum hypometabolism in a Chinese case of hereditary spastic paraplegia with thin corpus callosum.Semantic proximity Read ↗

Clinical Progression and Genetic Analysis in Hereditary Spastic Paraplegia With Thin Corpus Callosum in Spastic Gait Gene 11 (SPG11)Semantic proximity Read ↗

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Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.Semantic proximity Read ↗

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Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.Semantic proximity Read ↗

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Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.Semantic proximity Read ↗

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