title: Investigation of the motor system in two siblings with Canavan's disease: a combined transcranial magnetic stimulation (TMS) - diffusion tensor imaging (DTI) study.
abstract: Canavan's disease (CD) is a hereditary leukodystrophy caused by mutations in the aspartoacylase gene (ASPA), leading to spongiform degeneration of the white matter and severe impairment of psychomotor development. We present the cases of two non-Jewish sisters with CD that have a milder and protracted clinical course compared to typical CD. MRI imaging revealed bilateral high-signal-intensity areas in the thalami and the internal capsule and MR spectroscopy showed typical findings for CD (a marked increase in N-acetylaspartate (NAA) levels). FA values of the right and left corticospinal tracts at the level of the posterior limb of the internal capsule, and the centrum semiovale were found to be significantly reduced compared to healthy controls. From a neurophysiological point of view, the peripheral motor system was normal. In contrast, cortical stimulation at maximal intensity failed to elicit facilitated or resting MEPs and silent periods (SPs) in upper and lower limbs, providing evidence for significant upper motor pathway dysfunction.
authors.affiliation: Laboratory of Clinical Neurophysiology, AHEPA University Hospital, Thessaloniki, Greece.
authors.forename: V K
authors.initials: VK
authors.lastname: Kimiskidis
authors.affiliation: Laboratory of Clinical Neurophysiology, AHEPA University Hospital, Thessaloniki, Greece. vpapal@auth.gr.
authors.forename: Vasileios
authors.initials: V
authors.lastname: Papaliagkas
authors.affiliation: Third Department of Neurology, G. Papanikolaou Hospital, Thessaloniki, Greece.
authors.forename: S
authors.initials: S
authors.lastname: Papagiannopoulos
authors.affiliation: First Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: D
authors.initials: D
authors.lastname: Zafeiriou
authors.affiliation: Third Department of Neurology, G. Papanikolaou Hospital, Thessaloniki, Greece.
authors.forename: D
authors.initials: D
authors.lastname: Kazis
authors.affiliation: Euromedica Diagnostic Center, Thessaloniki, Greece.
authors.forename: E
authors.initials: E
authors.lastname: Tsatsali-Foroglou
authors.affiliation: Third Department of Neurology, G. Papanikolaou Hospital, Thessaloniki, Greece.
authors.forename: Z
authors.initials: Z
authors.lastname: Kouvatsou
authors.affiliation: Third Department of Neurology, G. Papanikolaou Hospital, Thessaloniki, Greece.
authors.forename: V
authors.initials: V
authors.lastname: Kapina
authors.affiliation: Department of Experimental Physiology, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: D
authors.initials: D
authors.lastname: Koutsonikolas
authors.affiliation: Department of Experimental Physiology, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: G
authors.initials: G
authors.lastname: Anogianakis
authors.affiliation: Department of Radiology, G. Papanikolaou Hospital, Thessaloniki, Greece.
authors.forename: T
authors.initials: T
authors.lastname: Geroukis
authors.affiliation: Third Department of Neurology, G. Papanikolaou Hospital, Thessaloniki, Greece.
authors.forename: S
authors.initials: S
authors.lastname: Bostantjopoulou
mesh_terms: D000328:Adult; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D017825:Canavan Disease / Q000000981:diagnostic imaging* / Q000628:therapy*; D056324:Diffusion Tensor Imaging / Q000379:methods*; D004525:Efferent Pathways / Q000000981:diagnostic imaging*; D019054:Evoked Potentials, Motor; D005260:Female; D006801:Humans; D020772:Internal Capsule / Q000000981:diagnostic imaging; D011712:Pyramidal Tracts / Q000000981:diagnostic imaging / Q000378:metabolism; D035781:Siblings; D013788:Thalamus / Q000000981:diagnostic imaging; D050781:Transcranial Magnetic Stimulation / Q000379:methods*
chemical_list: D001224:Aspartic Acid; C000179:N-acetylaspartate
keywords: Canavan’s disease; DTI; TMS