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Evolution of striatal degeneration in McLeod syndrome


Valko, P O; Hänggi, Jürgen; Meyer, Martin; Jung, H H (2010). Evolution of striatal degeneration in McLeod syndrome. European Journal of Neurology, 17(4):612-618.

Abstract

BACKGROUND AND PURPOSE: McLeod neuroacanthocytosis syndrome (MLS) is an X-linked multisystem disorder with CNS manifestations resembling Huntington disease. Neuroimaging studies revealed striatal atrophy with predominance of the caudate nucleus. Our previous cross-sectional MRI study showed an association of volume loss in the caudate nucleus and putamen with the disease duration. METHODS: In the present study, we examined three brothers with genetically confirmed diagnosis of MLS using an observer-independent and fully automated subcortical segmentation procedure to measure striatal volumes. RESULTS: In a cross-sectional comparison with 20 healthy age-matched control men, the volumes of the caudate nucleus of the three patients were significantly smaller as confirmed by z-score transformations. On an individual basis, volumes in the two more severely affected and older patients were smaller than in the less affected younger brother. Longitudinal MRI-based measurements over 7 years demonstrated a statistical trend towards significant decreased caudate volumes in McLeod patients. CONCLUSIONS: Our findings indicate that structural MRI combined with fully automated computational morphometric analyses represents an objective and observer-independent imaging tool for the representation of progressive striatal degeneration in MLS and might be a valuable methodology for cross-sectional as well as longitudinally volumetric studies in other rare neurodegenerative diseases, even on individual patients.

Abstract

BACKGROUND AND PURPOSE: McLeod neuroacanthocytosis syndrome (MLS) is an X-linked multisystem disorder with CNS manifestations resembling Huntington disease. Neuroimaging studies revealed striatal atrophy with predominance of the caudate nucleus. Our previous cross-sectional MRI study showed an association of volume loss in the caudate nucleus and putamen with the disease duration. METHODS: In the present study, we examined three brothers with genetically confirmed diagnosis of MLS using an observer-independent and fully automated subcortical segmentation procedure to measure striatal volumes. RESULTS: In a cross-sectional comparison with 20 healthy age-matched control men, the volumes of the caudate nucleus of the three patients were significantly smaller as confirmed by z-score transformations. On an individual basis, volumes in the two more severely affected and older patients were smaller than in the less affected younger brother. Longitudinal MRI-based measurements over 7 years demonstrated a statistical trend towards significant decreased caudate volumes in McLeod patients. CONCLUSIONS: Our findings indicate that structural MRI combined with fully automated computational morphometric analyses represents an objective and observer-independent imaging tool for the representation of progressive striatal degeneration in MLS and might be a valuable methodology for cross-sectional as well as longitudinally volumetric studies in other rare neurodegenerative diseases, even on individual patients.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Clinic for Neurology
06 Faculty of Arts > Institute of Psychology
Dewey Decimal Classification:150 Psychology
610 Medicine & health
Language:English
Date:2010
Deposited On:16 Jul 2010 14:12
Last Modified:17 Feb 2018 17:12
Publisher:Wiley-Blackwell
ISSN:1351-5101
Additional Information:The definitive version is available at www.interscience.wiley.com
OA Status:Green
Publisher DOI:https://doi.org/10.1111/j.1468-1331.2009.02872.x
PubMed ID:19968700

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