Imaging in Glucocerebrosidase-Associated Parkinsonism: Current Status and Implications for Pathophysiology

Kiferle, Lorenzo; Giuntini, Martina; Bonuccelli, Ubaldo; Ceravolo, Roberto

doi:10.1159/000433438

Cited by 2 publications

(2 citation statements)

References 42 publications

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“…1 , 2 Heterozygous GBA mutations have been known as the most common genetic risk factor for PD. 4 , 5 PD patients with this mutation clinically looks like patients without this mutation, except for earlier disease onset and more cognitive impairment in GBA mutation carriers. 4 It should be mentioned that not all the GBA mutation carriers are neurologically symptomatic.…”

Section: Introductionmentioning

confidence: 88%

Transcranial sonography in carriers of Gaucher disease

Omrani¹,

Ansari-Damavandi²,

Zamani³

et al. 2019

CJN

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Background: Glucocerebrosidase (GBA) mutation is the most common genetic risk factor in Parkinson’s disease (PD). Transcranial sonography (TCS) shows increased substantia nigra (SN) echogenicity in both idiopathic and genetic forms of PD. The goal of this study was to compare maximal area of SN hyperechogenicity (aSNmax) and diameter of third ventricle (DTV) between GBA mutation carriers and healthy controls. Methods: Twenty-six carriers of GBA mutation and twenty-six healthy controls underwent TCS. The aSNmax and the DTV were measured. Mini-mental status examination (MMSE) and demographic data of the subjects were recorded, too. Results: Mean aSNmax in GBA mutation carriers was significantly higher (0.31 ± 0.06 cm2) than controls (0.16 ± 0.04 cm2). Moreover, DTV was significantly higher in GBA mutation carriers group (3.98 ± 0.90 vs 3.29 ± 0.56 cm). Conclusion: Increased SN echogenicity and increased third ventricle diameter in GBA mutation carriers may be caused by alterations in iron metabolism with reference to their genetic status.

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Section: Introductionmentioning

confidence: 88%

Transcranial sonography in carriers of Gaucher disease

Omrani¹,

Ansari-Damavandi²,

Zamani³

et al. 2019

CJN

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“…The aim of the present systematic review is to critically summarize evidence from these studies, to update a previous review on the topic, 15 and to analyze and discuss the emerging controversies in the field, trying to address apparent discrepancies.…”

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confidence: 99%

Neuroimaging in Glucocerebrosidase‐Associated Parkinsonism: A Systematic Review

2022

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Background Mutations in the GBA gene cause Gaucher's disease (GD) and constitute the most frequent genetic risk factor for idiopathic Parkinson's disease (iPD). Nonmanifesting carriers of GBA mutations/variants (GBA‐NMC) constitute a potential PD preclinical population, whereas PD patients carrying some GBA mutations/variants (GBA‐PD) have a higher risk of a more aggressive disease course. Different neuroimaging techniques are emerging as potential biomarkers in PD and have been used to study GBA‐associated parkinsonism. Objective The aim is to critically review studies applying neuroimaging to GBA‐associated parkinsonism. Methods Literature search was performed using PubMed and EMBASE databases (last search February 7, 2022). Studies reporting neuroimaging findings in GBA‐PD, GD with and without parkinsonism, and GBA‐NMC were included. Results Thirty‐five studies were included. In longitudinal studies, GBA‐PD patients show a more aggressive disease than iPD at both structural magnetic resonance imaging and 123‐fluoropropylcarbomethoxyiodophenylnortropane single‐photon emission computed tomography. Fluorodeoxyglucose‐positron emission tomography and brain perfusion studies reported a greater cortical involvement in GBA‐PD compared to iPD. Overall, contrasting evidence is available regarding GBA‐NMC for imaging and clinical findings, although subtle differences have been reported compared with healthy controls with no mutations. Conclusions Although results must be interpreted with caution due to limitations of the studies, in line with previous clinical observations, GBA‐PD showed a more aggressive disease progression in neuroimaging longitudinal studies compared to iPD. Cognitive impairment, a “clinical signature” of GBA‐PD, seems to find its neuroimaging correlate in the greater cortical burden displayed by these patients as compared to iPD. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society

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Imaging in Glucocerebrosidase-Associated Parkinsonism: Current Status and Implications for Pathophysiology

Cited by 2 publications

References 42 publications

Transcranial sonography in carriers of Gaucher disease

Transcranial sonography in carriers of Gaucher disease

Neuroimaging in Glucocerebrosidase‐Associated Parkinsonism: A Systematic Review

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