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Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis.
Eur J Neurol. 2019 03; 26(3):442-e35.EJ

Abstract

BACKGROUND AND PURPOSE

Late-onset Pompe disease (LOPD) is a rare, multisystem disorder that is well established to mainly impair skeletal muscle function. Systematic studies exploring brain functions in LOPD are lacking. The aim of this study was to detect morphological and functional brain alterations as well as neuropsychological impairment in LOPD.

METHODS

We studied 21 patients (10 male, mean age 49 ± 18.4 years) with defined diagnosis of LOPD, divided into two groups: one with pre-symptomatic hyperCKemia with no muscle weakness and the second with limb-girdle muscle weakness. All patients underwent 3T magnetic resonance imaging (MRI) to obtain morphological/angiographic evaluation as well as normalized cortical brain volume and resting-state functional MRI. Fazekas score was applied to quantify white matter lesions, whereas Smoker's criteria were used to examine dolichoectasia. A complete neuropsychological assessment was performed.

RESULTS

The MRI data showed that 12/21 patients (57%) demonstrated signs of cerebral vasculopathy, with a Fazekas score >2 in 67%. According to Smoker's criteria, 11/21 patients (52%) had a dolichoectasia of the vertebrobasilar system; an intracranial aneurysm was detected in 3/21 patients (14%). Resting-state functional MRI demonstrated significantly decreased brain connectivity in the salience network with a more relevant reduction in the bilateral middle and superior frontal gyrus. Gray matter atrophy correlated with age and disease duration. A mild impairment in executive functions was also identified.

CONCLUSIONS

In this LOPD cohort the results showed morphological and functional brain alterations with mild neuropsychological dysfunction, mainly in the limb-girdle muscle weakness group. Cerebrovascular alterations seemed to be not related to common risk factors, suggesting a major role of enzymatic deficiency in the pathogenesis of brain abnormalities.

Authors+Show Affiliations

Department of Clinical and Experimental Medicine, University of Messina, Messina.Department of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, Messina. IRCCS Centro Neurolesi 'Bonino-Pulejo', Messina.Department of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, Messina.IRCCS Centro Neurolesi 'Bonino-Pulejo', Messina.IRCCS Centro Neurolesi 'Bonino-Pulejo', Messina.Department of Clinical and Experimental Medicine, University of Messina, Messina. DIBIMIS University of Palermo, Palermo, Italy.IRCCS Centro Neurolesi 'Bonino-Pulejo', Messina.IRCCS Centro Neurolesi 'Bonino-Pulejo', Messina.Department of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, Messina.Department of Clinical and Experimental Medicine, University of Messina, Messina.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

30312517

Citation

Musumeci, O, et al. "Central Nervous System Involvement in Late-onset Pompe Disease: Clues From Neuroimaging and Neuropsychological Analysis." European Journal of Neurology, vol. 26, no. 3, 2019, pp. 442-e35.
Musumeci O, Marino S, Granata F, et al. Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis. Eur J Neurol. 2019;26(3):442-e35.
Musumeci, O., Marino, S., Granata, F., Morabito, R., Bonanno, L., Brizzi, T., Lo Buono, V., Corallo, F., Longo, M., & Toscano, A. (2019). Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis. European Journal of Neurology, 26(3), 442-e35. https://doi.org/10.1111/ene.13835
Musumeci O, et al. Central Nervous System Involvement in Late-onset Pompe Disease: Clues From Neuroimaging and Neuropsychological Analysis. Eur J Neurol. 2019;26(3):442-e35. PubMed PMID: 30312517.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis. AU - Musumeci,O, AU - Marino,S, AU - Granata,F, AU - Morabito,R, AU - Bonanno,L, AU - Brizzi,T, AU - Lo Buono,V, AU - Corallo,F, AU - Longo,M, AU - Toscano,A, Y1 - 2018/11/15/ PY - 2018/08/03/received PY - 2018/10/08/accepted PY - 2018/10/13/pubmed PY - 2019/8/20/medline PY - 2018/10/13/entrez KW - Fazekas score KW - Pompe disease KW - Smoker score KW - cerebrovascular abnormalities KW - functional magnetic resonance imaging KW - late-onset Pompe disease SP - 442 EP - e35 JF - European journal of neurology JO - Eur. J. Neurol. VL - 26 IS - 3 N2 - BACKGROUND AND PURPOSE: Late-onset Pompe disease (LOPD) is a rare, multisystem disorder that is well established to mainly impair skeletal muscle function. Systematic studies exploring brain functions in LOPD are lacking. The aim of this study was to detect morphological and functional brain alterations as well as neuropsychological impairment in LOPD. METHODS: We studied 21 patients (10 male, mean age 49 ± 18.4 years) with defined diagnosis of LOPD, divided into two groups: one with pre-symptomatic hyperCKemia with no muscle weakness and the second with limb-girdle muscle weakness. All patients underwent 3T magnetic resonance imaging (MRI) to obtain morphological/angiographic evaluation as well as normalized cortical brain volume and resting-state functional MRI. Fazekas score was applied to quantify white matter lesions, whereas Smoker's criteria were used to examine dolichoectasia. A complete neuropsychological assessment was performed. RESULTS: The MRI data showed that 12/21 patients (57%) demonstrated signs of cerebral vasculopathy, with a Fazekas score >2 in 67%. According to Smoker's criteria, 11/21 patients (52%) had a dolichoectasia of the vertebrobasilar system; an intracranial aneurysm was detected in 3/21 patients (14%). Resting-state functional MRI demonstrated significantly decreased brain connectivity in the salience network with a more relevant reduction in the bilateral middle and superior frontal gyrus. Gray matter atrophy correlated with age and disease duration. A mild impairment in executive functions was also identified. CONCLUSIONS: In this LOPD cohort the results showed morphological and functional brain alterations with mild neuropsychological dysfunction, mainly in the limb-girdle muscle weakness group. Cerebrovascular alterations seemed to be not related to common risk factors, suggesting a major role of enzymatic deficiency in the pathogenesis of brain abnormalities. SN - 1468-1331 UR - https://www.unboundmedicine.com/medline/citation/30312517/Central_nervous_system_involvement_in_late_onset_Pompe_disease:_clues_from_neuroimaging_and_neuropsychological_analysis_ L2 - https://doi.org/10.1111/ene.13835 DB - PRIME DP - Unbound Medicine ER -