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Article

Spastin related hereditary spastic paraplegia with dysplastic corpus callosum.

Journal of the neurological sciences - 15 Sept 2005

Alber Burkhard, Pernauer Magdalena, Schwan Annemarie, Rothmund Gabriele, Hoffmann Karl T, Brummer Dagmar, Sperfeld Anne D, Uttner Ingo, Binder Heinrich, Epplen Joerg T, Dullinger Jörn, Ludolph Albert C, Meyer Thomas

Abstract excerpt

Thin corpus callosum has been recently observed in two patients with an autosomal dominant trait of hereditary spastic paraplegia (HSP) linked to a novel mutation in the spastin gene (SPG4). In the same two patients cerebellar atrophy has been found. Reportedly, in other members of the same family, there has been a variable presence of mental retardation. We report on the clinical and genetic investigation of an...

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Identifiers

PMID: 16009377
DOI: 10.1016/j.jns.2005.03.040

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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