Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD)

Montagnese, Federica; Granata, Francesca; Musumeci, Olimpia; Rodolico, Carmelo; Mondello, Stefania; Barca, Emanuele; Cucinotta, Mariapaola; Ciranni, A.; Longo, Marcello; Toscano, Antonio

doi:10.1007/s10545-015-9913-x

Cited by 34 publications

(42 citation statements)

References 34 publications

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“…We demonstrated the presence of isolated unruptured intracranial aneurysms in 9.5% of patients as well as an elevated frequency (47%) of VBD . Interestingly, we also detected that 13/21 (62%) of patients presented signs of lacunar encephalopathy, not related to major risk factors . Cognitive impairment, reported in patients with infantile Pompe (IOPD), has been rarely described in LOPD.…”

Section: Introductionmentioning

confidence: 59%

“…In a previous study, we identified a cohort of patients with LOPD with variable types of cerebrovascular abnormalities . We demonstrated the presence of isolated unruptured intracranial aneurysms in 9.5% of patients as well as an elevated frequency (47%) of VBD .…”

Section: Introductionmentioning

confidence: 80%

“…In our previous study on patients with LOPD, we systematically looked for cerebrovascular abnormalities showing recurrence of VBD and evidence of small‐vessel disease with multilacunes or leukoaraiosis in about 60% of examined patients. It seemed that vascular alterations, apart from respiratory failure, were not related to risk factors .…”

Section: Discussionmentioning

confidence: 99%

“…Late‐onset Pompe disease (LOPD) is usually characterized by a proximal/axial muscle weakness, associated early or later with respiratory impairment or pre‐symptomatic hyperCKemia, often with myalgia and/or easy fatigability . For a long time, it has been considered only as a muscle disorder but several reports have demonstrated the frequent involvement of other tissues, highlighting the multisystem nature of the disease .…”

Section: Introductionmentioning

confidence: 99%

“…Late-onset Pompe disease (LOPD) is usually characterized by a proximal/axial muscle weakness, associated early or later with respiratory impairment or pre-symptomatic hyperCKemia, often with myalgia and/or easy fatigability [2]. For a long time, it has been considered only as a muscle disorder but several reports have demonstrated the frequent involvement of other tissues, highlighting the multisystem nature of the disease [3][4][5][6][7][8][9]. The central nervous system involvement causing motor dysfunction has been evaluated in a few studies in Pompe (GaaÀ/À) mouse spinal cord, suggesting a widespread neuropathology [10,11].…”

Section: Introductionmentioning

confidence: 99%

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Central nervous system involvement in late‐onset Pompe disease: clues from neuroimaging and neuropsychological analysis

Musumeci¹,

Marıno

Granata³

et al. 2018

Euro J of Neurology

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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.

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Section: Introductionmentioning

confidence: 59%

Section: Introductionmentioning

confidence: 80%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Central nervous system involvement in late‐onset Pompe disease: clues from neuroimaging and neuropsychological analysis

Musumeci¹,

Marıno

Granata³

et al. 2018

Euro J of Neurology

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Is the brain involved in patients with late‐onset Pompe disease?

Dorpel

Vlugt

Dremmen

et al. 2022

J of Inher Metab Disea

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Our objective was to investigate brain structure, cerebral vasculature, and cognitive function in a cohort of patients with late-onset Pompe disease, with particular reference to the differences from those with the classic infantile phenotype, where extensive white-matter abnormalities (WMA) and impaired cognition on long-term enzyme treatment are reported in a subset of patients.Brain imaging (T1, T2, T2 fluid-attenuated inversion recovery, susceptibilityweighted images, and magnetic resonance angiography-time of flight) was combined with extensive cognitive testing of general intelligence (Wechsler IQ Test, Montreal Cognitive Assessment [MoCA]) and specific neuropsychological domains (verbal fluency, cognitive flexibility, attention, memory, and visuospatial abilities). We included 19 patients with late-onset Pompe disease (age range 11-56 years). Two patients showed mild punctate WMA within normal range for age, with a Fazekas score (FS) of 1 to 2. Magnetic resonance angiography revealed a slight vertebrobasilar dolichoectasia in two patients yet did not show any aneurysms or vascular dissections. Most patients had ageadjusted scores within the normal range for the Wechsler index scores (verbal comprehension, perceptual reasoning, working memory, and processing speed) and combined total intelligence (IQ) score (median 101, interquartile range 91-111; one patient had a below-average score for total IQ) as well as for the specific domains verbal fluency, attention, and memory. A subset of patients performed suboptimally on the Rey Complex Figure Test (9/14 patients) or cube-copying/clock-drawing test of the MoCA (8/10 patients). We therefore concluded that our study showed no brain abnormalities, other than minor microvascular lesions considered within normal range for age, norThe corresponding author takes full responsibility for the data, has full access to all data, and has the right to publish all data apart from any sponsor.

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Glycogen Storage Disease, Type 2

Chen¹

2016

Atlas of Genetic Diagnosis and Counseling

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Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD)

Cited by 34 publications

References 34 publications

Central nervous system involvement in late‐onset Pompe disease: clues from neuroimaging and neuropsychological analysis

Central nervous system involvement in late‐onset Pompe disease: clues from neuroimaging and neuropsychological analysis

Is the brain involved in patients with late‐onset Pompe disease?

Glycogen Storage Disease, Type 2

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