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Investigation of the motor system in two siblings with Canavan's disease: a combined transcranial magnetic stimulation (TMS) - diffusion tensor imaging (DTI) study.

TitleInvestigation of the motor system in two siblings with Canavan's disease: a combined transcranial magnetic stimulation (TMS) - diffusion tensor imaging (DTI) study.
Publication TypeJournal Article
Year of Publication2017
AuthorsKimiskidis, V. K., Papaliagkas V., Papagiannopoulos S., Zafeiriou D., Kazis D., Tsatsali-Foroglou E., Kouvatsou Z., Kapina V., Koutsonikolas D., Anogianakis G., Geroukis T., & Bostantjopoulou S.
JournalMetab Brain Dis
Volume32
Issue2
Pagination307-310
Date Published2017 04
ISSN1573-7365
KeywordsAdult, Aspartic Acid, Canavan Disease, Diffusion Tensor Imaging, Efferent Pathways, Evoked Potentials, Motor, Female, Humans, Internal Capsule, Pyramidal Tracts, Siblings, Thalamus, Transcranial Magnetic Stimulation
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.

DOI10.1007/s11011-017-9955-x
Alternate JournalMetab Brain Dis
PubMed ID28130616

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