title: Thin corpus callosum and amyotrophy in spastic paraplegia--case report and review of literature.
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.affiliation: Department of Neurology, University of Regensburg, Regensburg, Germany. beate.winner@klinik.uni-regensburg.de
authors.forename: Beate
authors.initials: B
authors.lastname: Winner
authors.forename: Claudia
authors.initials: C
authors.lastname: Gross
authors.forename: Gökhan
authors.initials: G
authors.lastname: Uyanik
authors.forename: Wilhelm
authors.initials: W
authors.lastname: Schulte-Mattler
authors.forename: Ralf
authors.initials: R
authors.lastname: Lürding
authors.forename: Jörg
authors.initials: J
authors.lastname: Marienhagen
authors.forename: Ulrich
authors.initials: U
authors.lastname: Bogdahn
authors.forename: Christian
authors.initials: C
authors.lastname: Windpassinger
authors.forename: Ute
authors.initials: U
authors.lastname: Hehr
authors.forename: Jürgen
authors.initials: J
authors.lastname: Winkler
mesh_terms: D000328:Adult; D002540:Cerebral Cortex / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D003072:Cognition Disorders / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D003337:Corpus Callosum / Q000000981:diagnostic imaging / Q000473:pathology* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D004734:Energy Metabolism / Q000502:physiology; D005260:Female; D006225:Hand / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D008279:Magnetic Resonance Imaging; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D009133:Muscular Atrophy / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D009154:Mutation; D009421:Nervous System Malformations / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D010264:Paraplegia / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D010375:Pedigree; D010525:Peripheral Nerves / Q000473:pathology / Q000503:physiopathology; D010523:Peripheral Nervous System Diseases / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D049268:Positron-Emission Tomography; D013577:Syndrome