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Article: MRI-Guided Focused Ultrasound for the Treatment of Dystonia: A Narrative Review.

Momin, Sheikh Muktadir Bin / Aquilina, Kristian / Bulstrode, Harry / Taira, Takaomi / Kalia, Suneil / Natalwala, Ammar

2024 Volume 16, Issue 2, Page(s) e54284

Abstract: Contemporary surgical management of dystonia includes neuromodulation via deep brain stimulation (DBS) or ablative techniques such as radiofrequency (RF) ablation. MRI-guided focused ultrasound (MRgFUS) is an emerging modality that uses high-intensity ... ...

Abstract	Contemporary surgical management of dystonia includes neuromodulation via deep brain stimulation (DBS) or ablative techniques such as radiofrequency (RF) ablation. MRI-guided focused ultrasound (MRgFUS) is an emerging modality that uses high-intensity ultrasound to precisely ablate targets in the brain; this is incisionless, potentially avoiding the surgical risks of a burr hole and transcortical tract to reach the anatomical target. There is some evidence of efficacy in essential tremor and Parkinson's disease (PD), but, to date, there is no study aggregating the evidence of MRgFUS in dystonia. In this narrative review, we searched Medline, Embase, CINAHL, EBSCO, and ClinicalTrials.gov for primary studies and clinical trials on MRgFUS in the treatment of dystonia. Data were analyzed concerning dystonia phenotype, reported outcomes, and complications. PD-related dystonia was also included within the scope of the review. Using our search criteria, six articles on the use of MRgFUS in adult dystonia and three articles on the use of FUS in dystonia in PD were included. Four trials on the use of FUS in dystonia were also found on ClinicalTrials.gov, one of which was completed in December 2013. All included studies showed evidence of symptomatic improvement, mostly in focal hand dystonia; improvements were also found in dystonia-associated tremor, cervicobrachial dystonia, and dystonia-associated chronic neuropathic pain as well as PD-related dystonia. Reported complications included transient neurological deficits and persistent arm pain in one study. However, the evidence is limited to level-4 case series at present. MRgFUS is an emerging modality that appears to be safe and effective, particularly in focal hand dystonia, without major adverse effects. However, the quality of evidence is low at present, and long-term outcomes are unknown. High-quality prospective studies comparing MRgFUS to other surgical techniques will be useful in determining its role in the management of dystonia.
Language	English
Publishing date	2024-02-16
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2747273-5
ISSN	2168-8184
ISSN	2168-8184
DOI	10.7759/cureus.54284
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Article ; Online: Fibre orientation atlas guided rapid segmentation of white matter tracts.

Young, Fiona / Aquilina, Kristian / Seunarine, Kiran K / Mancini, Laura / Clark, Chris A / Clayden, Jonathan D

Human brain mapping

2024 Volume 45, Issue 2, Page(s) e26578

Abstract: Fibre tract delineation from diffusion magnetic resonance imaging (MRI) is a valuable clinical tool for neurosurgical planning and navigation, as well as in research neuroimaging pipelines. Several popular methods are used for this task, each with ... ...

Abstract	Fibre tract delineation from diffusion magnetic resonance imaging (MRI) is a valuable clinical tool for neurosurgical planning and navigation, as well as in research neuroimaging pipelines. Several popular methods are used for this task, each with different strengths and weaknesses making them more or less suited to different contexts. For neurosurgical imaging, priorities include ease of use, computational efficiency, robustness to pathology and ability to generalise to new tracts of interest. Many existing methods use streamline tractography, which may require expert neuroimaging operators for setting parameters and delineating anatomical regions of interest, or suffer from as a lack of generalisability to clinical scans involving deforming tumours and other pathologies. More recently, data-driven approaches including deep-learning segmentation models and streamline clustering methods have improved reproducibility and automation, although they can require large amounts of training data and/or computationally intensive image processing at the point of application. We describe an atlas-based direct tract mapping technique called 'tractfinder', utilising tract-specific location and orientation priors. Our aim was to develop a clinically practical method avoiding streamline tractography at the point of application while utilising prior anatomical knowledge derived from only 10-20 training samples. Requiring few training samples allows emphasis to be placed on producing high quality, neuro-anatomically accurate training data, and enables rapid adaptation to new tracts of interest. Avoiding streamline tractography at the point of application reduces computational time, false positives and vulnerabilities to pathology such as tumour deformations or oedema. Carefully filtered training streamlines and track orientation distribution mapping are used to construct tract specific orientation and spatial probability atlases in standard space. Atlases are then transformed to target subject space using affine registration and compared with the subject's voxel-wise fibre orientation distribution data using a mathematical measure of distribution overlap, resulting in a map of the tract's likely spatial distribution. This work includes extensive performance evaluation and comparison with benchmark techniques, including streamline tractography and the deep-learning method TractSeg, in two publicly available healthy diffusion MRI datasets (from TractoInferno and the Human Connectome Project) in addition to a clinical dataset comprising paediatric and adult brain tumour scans. Tract segmentation results display high agreement with established techniques while requiring less than 3 min on average when applied to a new subject. Results also display higher robustness than compared methods when faced with clinical scans featuring brain tumours and resections. As well as describing and evaluating a novel proposed tract delineation technique, this work continues the discussion on the challenges surrounding the white matter segmentation task, including issues of anatomical definitions and the use of quantitative segmentation comparison metrics.
MeSH term(s)	Adult ; Humans ; Child ; White Matter/diagnostic imaging ; Diffusion Tensor Imaging/methods ; Reproducibility of Results ; Diffusion Magnetic Resonance Imaging/methods ; Neuroimaging ; Image Processing, Computer-Assisted/methods ; Brain/diagnostic imaging
Language	English
Publishing date	2024-02-09
Publishing country	United States
Document type	Journal Article
ZDB-ID	1197207-5
ISSN	1097-0193 ; 1065-9471
ISSN (online)	1097-0193
ISSN	1065-9471
DOI	10.1002/hbm.26578
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Article ; Online: Correction to: Fibre tract segmentation for intraoperative diffusion MRI in neurosurgical patients using tract-specific orientation atlas and tumour deformation modelling.

Young, Fiona / Aquilina, Kristian / Clark, Chris A / Clayden, Jonathan D

International journal of computer assisted radiology and surgery

2022 Volume 17, Issue 10, Page(s) 1979

Language	English
Publishing date	2022-05-26
Publishing country	Germany
Document type	Published Erratum
ZDB-ID	2365628-1
ISSN	1861-6429 ; 1861-6410
ISSN (online)	1861-6429
ISSN	1861-6410
DOI	10.1007/s11548-022-02667-3
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Article ; Online: Paediatric neurosurgical implications of a ribosomopathy: illustrative case and literature review.

Murphy, Suzanne / Grima, Gabriella / Mankad, Kshitij / Aquilina, Kristian

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

2021 Volume 38, Issue 3, Page(s) 643–648

Abstract: Ribosomopathies are rare, recently defined entities. One of these, Labrune syndrome, is recognisable radiologically by its distinctive triad of leukoencephalopathy, intracranial calcifications and cysts (LCC). These cysts may have neurosurgical ... ...

Abstract	Ribosomopathies are rare, recently defined entities. One of these, Labrune syndrome, is recognisable radiologically by its distinctive triad of leukoencephalopathy, intracranial calcifications and cysts (LCC). These cysts may have neurosurgical implications at different ages because of their progressive expansion and local mass effect. The aetiology of LCC is related to a widespread cerebral microangiopathy and is due to a genetic mutation in SNORD118, responsible for stabilisation of the large ribosomal subunit during assembly.
MeSH term(s)	Calcinosis/diagnostic imaging ; Calcinosis/genetics ; Calcinosis/surgery ; Central Nervous System Cysts ; Child ; Cysts ; Humans ; Leukoencephalopathies ; RNA, Small Nucleolar/genetics
Chemical Substances	RNA, Small Nucleolar
Language	English
Publishing date	2021-05-21
Publishing country	Germany
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	605988-0
ISSN	1433-0350 ; 0302-2803 ; 0256-7040
ISSN (online)	1433-0350
ISSN	0302-2803 ; 0256-7040
DOI	10.1007/s00381-021-05208-6
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Article: Investigating lesion location in relation to cerebellar mutism following pediatric tumor resection.

Skye, Jax / Bruss, Joel / Toescu, Sebastian / Aquilina, Kristian / Lola, Gino Bardi / Boes, Aaron D

medRxiv : the preprint server for health sciences

2023

Abstract: Background and objectives: Approximately 25% of pediatric patients who undergo cerebellar tumor resection develop cerebellar mutism syndrome (CMS). Our group recently showed that damage to the cerebellar outflow pathway is associated with increased risk ...

Abstract	Background and objectives: Approximately 25% of pediatric patients who undergo cerebellar tumor resection develop cerebellar mutism syndrome (CMS). Our group recently showed that damage to the cerebellar outflow pathway is associated with increased risk of CMS. Here, we tested whether these findings replicate in an independent cohort. Methods: We evaluated the relationship between lesion location and the development of CMS in an observational study of 56 pediatric patients who underwent cerebellar tumor resection. We hypothesized that individuals that developed CMS after surgery (CMS+), relative to those that did not (CMS-) would have lesions that preferentially intersected with: 1) the cerebellar outflow pathway, and 2) a previously generated 'lesion-symptom map' of CMS. Analyses were conducted in accordance with pre-registered hypotheses and analytic methods (https://osf.io/r8yjv/). Results: We found supporting evidence for both hypotheses. Compared with CMS- patients, CMS+ patients (n=10) had lesions with greater overlap with the cerebellar outflow pathway (Cohen's d=.73, p=.05), and the CMS lesion-symptom map (Cohen's d=1.1, p=.004). Discussion: These results strengthen the association of lesion location with risk of developing CMS and demonstrate generalizability across cohorts. These findings may help to inform the optimal surgical approach to pediatric cerebellar tumors.
Language	English
Publishing date	2023-01-14
Publishing country	United States
Document type	Preprint
DOI	10.1101/2023.01.12.23284375
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Article ; Online: Rare large colloid cyst obstructing the posterior third ventricle: illustrative case.

Gerstl, Jakob V E / Aquilina, Kristian / Florman, Jeffrey E

Journal of neurosurgery. Case lessons

2021 Volume 1, Issue 15, Page(s) CASE2121

Abstract: Background: Colloid cysts of the posterior third ventricle are exceedingly rare. This location is a high-risk zone for colloid cysts because of potential obstruction of the cerebral aqueduct.: Observations: The authors report a case of a 57-year-old ... ...

Abstract	Background: Colloid cysts of the posterior third ventricle are exceedingly rare. This location is a high-risk zone for colloid cysts because of potential obstruction of the cerebral aqueduct. Observations: The authors report a case of a 57-year-old man who presented with a 6-month history of progressive headache, short-term memory loss, visual blurring, and an episode of double vision. Magnetic resonance imaging (MRI) revealed a colloid cyst, 22 mm in diameter, attached to the roof of the posterior third ventricle. The posterior third ventricle was obstructed, but both foramina of Monro were patent. The entirety of the cyst was resected via a right frontal parasagittal, interhemispheric, transventricular approach through the foramen of Monro. It was not contained within the velum interpositum. The patient did not experience any postoperative deficits. Lessons: This case supports the theoretical evidence that colloid cysts in the posterior zone of the third ventricle pose a risk for obstructive hydrocephalus. This report of a large cyst in a rare location describes a unique lesion and provides the first published MRI description.
Language	English
Publishing date	2021-04-12
Publishing country	United States
Document type	Case Reports
ISSN	2694-1902
ISSN (online)	2694-1902
DOI	10.3171/CASE2121
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Article ; Online: Complications associated with intrathecal drug delivery in a paediatric patient with Niemann-Pick type C.

Rodriguez Ciancio, Jose Ignacio Rodriguez / Aquilina, Kristian

BMJ case reports

2021 Volume 14, Issue 5

Abstract: We report on a male subject with a diagnosis of Niemann-Pick type C (NPC). He received an experimental medicinal product intrathecally initially via lumbar puncture (LP) and eventually via intrathecal drug delivery device. Shortly after implantation, the ...

Abstract	We report on a male subject with a diagnosis of Niemann-Pick type C (NPC). He received an experimental medicinal product intrathecally initially via lumbar puncture (LP) and eventually via intrathecal drug delivery device. Shortly after implantation, the device catheter migrated outside of the intrathecal space and coiled subcutaneously. The treatment continued via LP after removal of the device. A subdural haematoma developed after repeated LPs. It was surgically evacuated and the patient recovered with sequelae. Surgically implanted drug delivery devices are designed to bypass the blood-brain barrier and deliver a medicinal product directly into the cerebrospinal fluid circulation. Their use has extended into the field of neurodegenerative disorders. Significant adverse events can occur at any given time after implantation including neurological injury, dislodgement or displacement of any of its components, infection and drug-related complications; all can significantly affect the quality of life of patients. Repeated LPs also carry significant risk.
MeSH term(s)	Child ; Disease Progression ; Humans ; Injections, Spinal ; Male ; Niemann-Pick Disease, Type C/drug therapy ; Pharmaceutical Preparations ; Quality of Life ; Spinal Puncture
Chemical Substances	Pharmaceutical Preparations
Language	English
Publishing date	2021-05-07
Publishing country	England
Document type	Journal Article ; Case Reports
ISSN	1757-790X
ISSN (online)	1757-790X
DOI	10.1136/bcr-2021-241786
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Article ; Online: Intraventricular haemorrhage and posthaemorrhagic ventricular dilatation: moving beyond CSF diversion.

Chari, Aswin / Mallucci, Conor / Whitelaw, Andrew / Aquilina, Kristian

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

2021 Volume 37, Issue 11, Page(s) 3375–3383

Abstract: Advances in medical care have led to more premature babies surviving the neonatal period. In these babies, germinal matrix haemorrhage (GMH), intraventricular haemorrhage (IVH) and posthaemorrhagic ventricular dilatation (PHVD) are the most important ... ...

Abstract	Advances in medical care have led to more premature babies surviving the neonatal period. In these babies, germinal matrix haemorrhage (GMH), intraventricular haemorrhage (IVH) and posthaemorrhagic ventricular dilatation (PHVD) are the most important determinants of long-term cognitive and developmental outcomes. In this review, we discuss current neurosurgical management of IVH and PHVD, including the importance of early diagnosis of PHVD, thresholds for intervention, options for early management through the use of temporising measures and subsequent definitive CSF diversion. We also discuss treatment options for the evolving paradigm to manage intraventricular blood and its breakdown products. We review the evidence for techniques such as drainage, irrigation, fibrinolytic therapy (DRIFT) and neuroendoscopic lavage in the context of optimising cognitive, neurodevelopmental and quality of life outcomes in these premature infants.
MeSH term(s)	Cerebral Hemorrhage/complications ; Cerebral Hemorrhage/therapy ; Cerebral Ventricles/diagnostic imaging ; Cerebral Ventricles/surgery ; Dilatation ; Dilatation, Pathologic ; Humans ; Infant ; Infant, Newborn ; Infant, Premature, Diseases/therapy ; Quality of Life
Language	English
Publishing date	2021-05-15
Publishing country	Germany
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	605988-0
ISSN	1433-0350 ; 0302-2803 ; 0256-7040
ISSN (online)	1433-0350
ISSN	0302-2803 ; 0256-7040
DOI	10.1007/s00381-021-05206-8
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Article: A new era for optic pathway glioma: A developmental brain tumor with life-long health consequences.

Walker, David A / Aquilina, Kristian / Spoudeas, Helen / Pilotto, Chiara / Gan, Hoong-Wei / Meijer, Lisethe

Frontiers in pediatrics

2023 Volume 11, Page(s) 1038937

Abstract: Optic pathway and hypothalamic glioma (OPHG) are low-grade brain tumors that arise from any part of the visual pathways frequently involving the hypothalamus. The tumors grow slowly and present with features driven by their precise anatomical site, their ...

Abstract	Optic pathway and hypothalamic glioma (OPHG) are low-grade brain tumors that arise from any part of the visual pathways frequently involving the hypothalamus. The tumors grow slowly and present with features driven by their precise anatomical site, their age at presentation and the stage of growth and development of the host neural and orbital bony tissues. Up to 50% of optic pathway glioma arise in association with Neurofibromatosis type 1 (NF1), which affects 1 in 3,000 births and is a cancer predisposition syndrome. As low-grade tumors, they almost never transform to malignant glioma yet they can threaten life when they present under two years of age. The main risks are to threaten vision loss by progressive tumor damage to optic pathways; furthermore, invasion of the hypothalamus can lead to diencephalic syndrome in infancy and hypopituitarism later in life. Progressive cognitive and behavioural dysfunction can occur, as part of NF1 syndromic features and in sporadic cases where large bulky tumors compress adjacent structures and disrupt neuro-hypothalamic pathways. Persistently progressive tumors require repeated treatments to attempt to control vision loss, other focal brain injury or endocrine dysfunction. In contrast tumors presenting later in childhood can be seen to spontaneously arrest in growth and subsequently progress after periods of stability. These patterns are influenced by NF status as well as stages of growth and development of host tissues. The past two decades has seen an expansion in our understanding and knowledge of the clinical and scientific features of these tumors, their modes of presentation, the need for careful visual and endocrine assessment. This influences the decision-making surrounding clinical management with surgery, radiotherapy, chemotherapy and most recently, the potential benefit of molecularly targeted drug therapy. This article, based upon the authors' clinical and research experience and the published literature will highlight advances in approach to diagnosis, the established role of vision loss as justification of treatments and the emerging evidence of endocrine and neurological consequences that need to be incorporated into judgements for case selection for therapy or observation. Consideration is given to the current state of biological evidence justifying current trials of new therapies, the genetic studies of the NF1 gene and the potential for new approaches to OPHG detection and treatment. The outstanding health system priorities from the perspective of children, their parents and health system commissioners or insurers are discussed.
Language	English
Publishing date	2023-03-24
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2711999-3
ISSN	2296-2360
ISSN	2296-2360
DOI	10.3389/fped.2023.1038937
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Article ; Online: Fibre tract segmentation for intraoperative diffusion MRI in neurosurgical patients using tract-specific orientation atlas and tumour deformation modelling.

Young, Fiona / Aquilina, Kristian / A Clark, Chris / D Clayden, Jonathan

International journal of computer assisted radiology and surgery

2022 Volume 17, Issue 9, Page(s) 1559–1567

Abstract: Purpose: Intraoperative diffusion MRI could provide a means of visualising brain fibre tracts near a neurosurgical target after preoperative images have been invalidated by brain shift. We propose an atlas-based intraoperative tract segmentation method, ...

Abstract	Purpose: Intraoperative diffusion MRI could provide a means of visualising brain fibre tracts near a neurosurgical target after preoperative images have been invalidated by brain shift. We propose an atlas-based intraoperative tract segmentation method, as the standard preoperative method, streamline tractography, is unsuitable for intraoperative implementation. Methods: A tract-specific voxel-wise fibre orientation atlas is constructed from healthy training data. After registration with a target image, a radial tumour deformation model is applied to the orientation atlas to account for displacement caused by lesions. The final tract map is obtained from the inner product of the atlas and target image fibre orientation data derived from intraoperative diffusion MRI. Results: The simple tumour model takes only seconds to effectively deform the atlas into alignment with the target image. With minimal processing time and operator effort, maps of surgically relevant tracts can be achieved that are visually and qualitatively comparable with results obtained from streamline tractography. Conclusion: Preliminary results demonstrate feasibility of intraoperative streamline-free tract segmentation in challenging neurosurgical cases. Demonstrated results in a small number of representative sample subjects are realistic despite the simplicity of the tumour deformation model employed. Following this proof of concept, future studies will focus on achieving robustness in a wide range of tumour types and clinical scenarios, as well as quantitative validation of segmentations.
MeSH term(s)	Brain ; Diffusion Magnetic Resonance Imaging/methods ; Humans ; Image Processing, Computer-Assisted/methods ; Neoplasms ; White Matter
Language	English
Publishing date	2022-04-25
Publishing country	Germany
Document type	Journal Article
ZDB-ID	2365628-1
ISSN	1861-6429 ; 1861-6410
ISSN (online)	1861-6429
ISSN	1861-6410
DOI	10.1007/s11548-022-02617-z
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