Winner, Beate and Gross, Claudia and Uyanik, Goekhan and Schulte-Mattler, Wilhelm and Luerding, Ralf and Marienhagen, Joerg and Bogdahn, Ulrich and Windpassinger, Christian and Hehr, Ute and Winkler, Juergen (2006) Thin corpus callosum and amyotrophy in spastic paraplegia - Case report and review of literature. CLINICAL NEUROLOGY AND NEUROSURGERY, 108 (7). pp. 692-698. ISSN 0303-8467
Full text not available from this repository. (Request a copy)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. (18)Fluordesoxyglucose 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 15q 13-15). Thin CC and peripheral neuropathy often appear together in spastic paraplegia and might be indicative for combined degeneration mechanism of central and peripheral axons. (c) 2005 Elsevier B.V. All rights reserved.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | TROYER-SYNDROME; PARAPARESIS; PROGRESSION; 15Q13-15; FORM; hereditary spastic paraplegia; transcallosal inhibition; neuropathy; SPG 11; corpus callosum; amyotrophy |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik Medicine > Lehrstuhl für Neurologie Medicine > Abteilung für Nuklearmedizin |
| Depositing User: | Petra Gürster |
| Date Deposited: | 25 Feb 2021 11:21 |
| Last Modified: | 25 Feb 2021 11:21 |
| URI: | https://pred.uni-regensburg.de/id/eprint/33910 |
Actions (login required)
 |
View Item |
