Correlation of MR Imaging and MR Spectroscopy Findings with Cognitive Impairment in Mucopolysaccharidosis II

Vedolin, Leonardo; Schwartz, Ida; Komlós, Márcia; Schuch, Alice; Puga, Ana Cristina; Pinto, Louise Lapagesse de Camargo; Pires, Adriana; Giugliani, Roberto

doi:10.3174/ajnr.a0510

Cited by 63 publications

(47 citation statements)

References 26 publications

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“…The latter research group has found that cognitively impaired patients demonstrate a higher myo-inositol/creatine ratio, hypothesizing that this MR spectroscopic finding is due to GAG accumulation, increased astrocyte cell volume, or altered glial metabolism. 26 Their data have been confirmed and further extended by Davison et al 67 in a cohort of patients with MPS II. Decreased Nacetylaspartate, total choline and glutamate in the white matter, and an elevation of myo-inositol were the main findings.…”

Section: Mr Spectroscopysupporting

confidence: 68%

“…Many researchers came to the conclusion that the presence and extension of imaging abnormalities do not correspond to the severity of mental retardation. This lack of correlation was consistent for WMA, 11,12,14,20,21,23,25,38,41 enlargement of the PVS, 10,12,18,23 cerebral atrophy, 12,26,41 and ventriculomegaly. 12,26 On the other hand, a significant number of studies did find more severe neuroimaging abnormalities in patients with impaired cognitive profiles.…”

Section: Clinical Aspects Of Mr Imaging Findings In Mpsmentioning

confidence: 74%

“…Additionally, they have shown an elevation in the choline/creatine ratio in white matter lesions, speculating that this finding was the result of myelin damage, increased glial proliferation, or elevated cell membrane synthesis. 13 An important issue addressed in their work, as well as in the experiments of Vedolin et al, 26 was whether MR spectroscopic alterations could represent a possible biomarker of cognitive impairment in patients with MPS. The latter research group has found that cognitively impaired patients demonstrate a higher myo-inositol/creatine ratio, hypothesizing that this MR spectroscopic finding is due to GAG accumulation, increased astrocyte cell volume, or altered glial metabolism.…”

Section: Mr Spectroscopymentioning

confidence: 99%

“…17 In relation to the origin of ventriculomegaly, most authors agree that it is the combined result of cerebral atrophy secondary to neurologic degeneration, venous hypertension, and defective CSF reabsorption. 12,26 In the case of hydrocephalus, most authors agree that the deposition of storage material in the meninges may impair the function of pacchionian granulations and lead to abnormal CSF reabsorption and finally communicating hydrocephalus. 15,34 Stöckler et al 43 described the case of a 19-month-old patient with Hurler-Scheie syndrome who developed high-pressure hydrocephalus as a complication of an intracranial tumor.…”

Section: Hydrocephalus and Ventricular Enlargementmentioning

confidence: 99%

“…Nevertheless, diffuse WMA and ''honeycomb-like" appearance might be indicative of a process that leads to changes characterized by the accumulation of GAGs and gangliosides in neurons and astrocytes, 16,18,21,32,33 leading to neuronal loss, gliosis, delayed myelination, or/and demyelination. 9,10,18,21,26,32 Among other theories, increase of fluid content in the PVS 7 and lacunar infarctions have been proposed.…”

Section: White and Gray Matter Signal-intensity Abnormalitiesmentioning

confidence: 99%

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Brain and Spinal MR Imaging Findings in Mucopolysaccharidoses: A Review

Zafeiriou

Batzios

2012

AJNR Am J Neuroradiol

115

103

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SUMMARY: MPS represents a group of rare hereditary disorders characterized by multisystem involvement due to intralysosomal GAG accumulation. Among various tissues, both the central and peripheral nervous system are affected in almost all types of the disease. Thus, brain and spinal MR imaging are valuable tools for the assessment of neurologic involvement, and there is evidence that they might be reliable markers demonstrating disease severity and efficacy of treatment options currently used in patients with MPS. We aimed to review the most prominent MR imaging features of patients with MPS, paying attention to the physiopathologic mechanisms responsible for these alterations. Along with the description of neuroimaging findings, existing data in relation to their correlation with the severity of neurologic involvement is discussed, while another topic of great importance is the effect of various therapeutic regimens in the progression of brain and spinal MR imaging alterations. Finally, recent data concerning MR spectroscopy studies in MPS are also critically discussed. ABBREVIATIONS:ERT ϭ enzyme replacement therapy; GAG ϭ glycosaminoglycan; HSCT ϭ hematopoietic stem cell transplantation; MPS ϭ mucopolysacchari-

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Section: Mr Spectroscopysupporting

confidence: 68%

Section: Clinical Aspects Of Mr Imaging Findings In Mpsmentioning

confidence: 74%

Section: Mr Spectroscopymentioning

confidence: 99%

Section: Hydrocephalus and Ventricular Enlargementmentioning

confidence: 99%

Section: White and Gray Matter Signal-intensity Abnormalitiesmentioning

confidence: 99%

See 3 more Smart Citations

Brain and Spinal MR Imaging Findings in Mucopolysaccharidoses: A Review

Zafeiriou

Batzios

2012

AJNR Am J Neuroradiol

115

103

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Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X‐inactivation analysis and imaging evaluations

Pinto

Maluf

Leistner-Segal

et al. 2010

American J of Med Genetics Pt A

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For some X-linked disorders the expressivity and penetrance in females are almost similar to those ones found in males. For mucopolysaccharidosis type II (MPS II), there are no studies in the literature trying to identify subtle signs and symptoms of this disease in heterozygotes. The objective of this study was to compare heterozygotes and non-heterozygotes for MPS II, in order to test the hypothesis that heterozygotes may present subtle manifestations of the disease. In this observational and transversal study we collected data on 40 Brazilian women with a positive familial history for MPS II that included clinical and physical exam, karyotype, pattern of X-inactivation, iduronate-2-sulfatase (IDS) activity in leukocytes and plasma, urinary glycosaminoglycans levels, computerized tomography scans (CT) of abdomen and spine, and brain magnetic resonance imaging. The Results showed the following: According to DNA analysis, 22 women were classified as heterozygote and 18 as non-heterozygotes. We did not find any abnormality on physical examination, karyotype, or spine CT. Also the pattern of X-inactivation was not different between the groups. Applying the Bonferroni's correction, both groups were found to differ only in relation to IDS activity in plasma and in leukocyte, which were lower in heterozygotes. In our investigation we did not find any evidence of subtle clinical manifestations of MPS II in heterozygotes. Our findings suggest there is no relation between the absence of clinical signs in these women and the occurrence of a favorable skewing pattern of X-inactivation.

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Can serial cerebral MRIs predict the neuronopathic phenotype of MPS II?

Vollebregt

Ebbink

Rizopoulos

et al. 2021

J of Inher Metab Disea

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Objective To advance the prediction of the neurocognitive development in MPS II patients by jointly analyzing MRI and neurocognitive data in mucopolysaccharidosis (MPS) II patients. Methods Cognitive ability scores (CAS) were obtained by neuropsychological testing. Cerebral MRIs were quantified using a disease‐specific protocol. MRI sumscores were calculated for atrophy, white‐matter abnormalities (WMA) and Virchow‐Robin spaces (VRS). To distinguish between atrophy and hydrocephalus the Evans' index and the callosal angle (CA) were measured. A random effects repeated measurement model was used to correlate CAS with the three MRI sumscores. Results MRI (n = 47) and CAS scores (n = 78) of 19 male patients were analyzed. Ten patients were classified as neuronopathic and nine as non‐neuronopathic. Neuronopathic patients had normal cognitive development until age 3 years. Mental age plateaued between ages 3 and 6, and subsequently declined with loss of skills at a maximum developmental age of 4 years. MRIs of neuronopathic patients showed abnormal atrophy sumscores before CAS dropped below the threshold for intellectual disability (<70). White‐matter abnormalities (WMA) and brain atrophy progressed. The calculated sumscores were inversely correlated with CAS (r = −.90 for atrophy and −.69 for WMA). This was not biased by the influence of hydrocephalus as shown by measurement of the Evans' and callosal angle. Changes over time in the Virchow‐Robin spaces (VRS) on MRI were minimal. Conclusion In our cohort, brain atrophy showed a stronger correlation to a decline in CAS when compared to WMA. Atrophy‐scores were higher in young neuronopathic patients than in non‐neuronopathic patients and atrophy was an important early sign for the development of the neuronopathic phenotype, especially when observed jointly with white‐matter abnormalities.

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Correlation of MR Imaging and MR Spectroscopy Findings with Cognitive Impairment in Mucopolysaccharidosis II

Abstract: BACKGROUND AND PURPOSE:There are no reliable markers to predict neurologic outcome of patients with mucopolysaccharidosis (MPS) II. We hypothesized that brain MR imaging and MR spectroscopy are useful in depicting features related to cognitive impairment (CI) in MPS II.

Cited by 63 publications

References 26 publications

Brain and Spinal MR Imaging Findings in Mucopolysaccharidoses: A Review

Brain and Spinal MR Imaging Findings in Mucopolysaccharidoses: A Review

Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X‐inactivation analysis and imaging evaluations

Can serial cerebral MRIs predict the neuronopathic phenotype of MPS II?

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