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.
journal_name
Eur J Neuroljournal_title
European journal of neurologyauthors
Valko PO,Hänggi J,Meyer M,Jung HHdoi
10.1111/j.1468-1331.2009.02872.xsubject
Has Abstractpub_date
2010-04-01 00:00:00pages
612-8issue
4eissn
1351-5101issn
1468-1331pii
ENE2872journal_volume
17pub_type
杂志文章abstract:BACKGROUND AND PURPOSE:The purpose was to report the results of ultrasound-guided lumbar puncture for the administration of nusinersen in spinal muscular atrophy (SMA) patients with complex spines. METHODS:Eighteen SMA patients (five children, five adolescents and eight adults) with either severe scoliosis or spondylo...
journal_title:European journal of neurology
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journal_title:European journal of neurology
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journal_title:European journal of neurology
pub_type: 杂志文章
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