Thin corpus callosum and amyotrophy in spastic paraplegia--case report and review of literature.

Winner B, Winkler J, Bogdahn U, Hehr U (2006)

Publication Status: Published

Publication Type: Journal article

Publication year: 2006

Journal

Clinical Neurology and Neurosurgery Elsevier

Book Volume: 108

Pages Range: 692-8

Journal Issue: 7

DOI: 10.1016/j.clineuro.2005.06.007

Abstract

We report the clinical, structural, functional and genetic characterization of a 37-year-old Caucasian female, presenting as a sporadic case of complicated spastic paraplegia with thin corpus callosum (CC), cognitive impairment, amyotrophy of the hand muscles and a sensorimotor neuropathy and review the literature for spastic paraplegia with thin CC. Magnetic resonance imaging (MRI) examination revealed a thin CC with fronto-parietal cortical atrophy. 18Fluordesoxyglucose positron emission tomography (FDG-PET) showed reduced cortical and thalamic metabolism. By transcranial magnetic stimulation, we delineated a severe impairment of transcallosal inhibition. Sequence analysis did not reveal disease causing mutations in the genes SLC12A6 (Andermann), Spastin (SPG 4), BSCL2 (SPG 17) and Spartin (SPG 20). We reviewed the literature for HSP with thin CC and found 113 HSP patients with thin CC previously described (35 with linkage to chromosome 15q13-15). Thin CC and peripheral neuropathy often appear together in spastic paraplegia and might be indicative for combined degeneration mechanism of central and peripheral axons.

Authors with CRIS profile

Beate Winner Professur für Stammzell-Modelle seltener neuraler Erkrankungen Jürgen Winkler Professur für Molekulare Neurologie

Involved external institutions

Universität Regensburg

Germany (DE)

How to cite

APA:

Winner, B., Winkler, J., Bogdahn, U., & Hehr, U. (2006). Thin corpus callosum and amyotrophy in spastic paraplegia--case report and review of literature. Clinical Neurology and Neurosurgery, 108(7), 692-8. https://doi.org/10.1016/j.clineuro.2005.06.007

MLA:

Winner, Beate, et al. "Thin corpus callosum and amyotrophy in spastic paraplegia--case report and review of literature." Clinical Neurology and Neurosurgery 108.7 (2006): 692-8.

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