White matter alteration and cerebellar atrophy are hallmarks of brain MRI in alpha-mannosidosis

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064190%3A_____%2F21%3AN0000088" target="_blank" >RIV/00064190:_____/21:N0000088 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/21:10427248 RIV/00064165:_____/21:10427248

Result on the web

<a href="http://dx.doi.org/10.1016/j.ymgme.2020.11.008" target="_blank" >http://dx.doi.org/10.1016/j.ymgme.2020.11.008</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.ymgme.2020.11.008" target="_blank" >10.1016/j.ymgme.2020.11.008</a>

Result language

angličtina

Original language name

White matter alteration and cerebellar atrophy are hallmarks of brain MRI in alpha-mannosidosis

Original language description

Objective: Despite profound neurological symptomatology there are only few MRI studies focused on the brain abnormalities in alpha-mannosidosis (AM). Our aim was to characterize brain MRI findings in a large cohort of AM patients along with clinical manifestations. Methods: Twenty-two brain MRIs acquired in 13 untreated AM patients (8 M/5F; median age 17 years) were independently assessed by three experienced readers and compared to 16 controls. Results: Focal and/or diffuse hyperintense signals in the cerebral white matter were present in most (85%) patients. Cerebellar atrophy was common (62%), present from the age of 5 years. Progression was observed in two out of 6 patients with follow-up scans. Cortical atrophy (62%) and corpus callosum thinning (23%) were already present in a 13-month-old child. The presence of low T-2 signal intensity in basal ganglia and thalami was excluded by the normalized signal intensity profiling. The enlargement of perivascular spaces in white matter (38%), widening of perioptic CSF spaces (62%), and enlargement of cisterna magna (85%) were also observed. Diploic space thickening (100%), mucosal thickening (69%) and sinus hypoplasia (54%) were the most frequent non-CNS abnormalities. Conclusion: White matter changes and cerebellar atrophy are proposed to be the characteristic brain MRI features of AM. The previously reported decreased T-2 signal intensity in basal ganglia and thalami was not detected in this quantitative study. Rather, this relative MR appearance seems to be related to the diffuse high T-2 signal in the adjacent white matter and not the gray matter iron deposition that has been hypothesized.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30202 - Endocrinology and metabolism (including diabetes, hormones)

Project

—

Continuities

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2021

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

MOLECULAR GENETICS AND METABOLISM

ISSN

1096-7192

e-ISSN

1096-7206

Volume of the periodical

132

Issue of the periodical within the volume

3

Country of publishing house

US - UNITED STATES

Number of pages

9

Pages from-to

189-197

UT code for WoS article

000627418400005

EID of the result in the Scopus database

2-s2.0-85097660262