scholarly journals Genotype-associated cerebellar profiles in ALS: focal cerebellar pathology and cerebro-cerebellar connectivity alterations

2021 ◽  
pp. jnnp-2021-326854
Author(s):  
Peter Bede ◽  
Rangariroyashe H. Chipika ◽  
Foteini Christidi ◽  
Jennifer C. Hengeveld ◽  
Efstratios Karavasilis ◽  
...  
Keyword(s):  
White Matter ◽  
Disease Burden ◽  
Imaging Study ◽  
Anterior Lobe ◽  
Posterior Lobe ◽  
Superior Cerebellar Peduncle ◽  
Sporadic Als ◽  
Cerebellar Peduncles ◽  
Repeat Expansions ◽  
Cerebellar Peduncle

ObjectiveCerebellar disease burden and cerebro-cerebellar connectivity alterations are poorly characterised in amyotrophic lateral sclerosis (ALS) despite the likely contribution of cerebellar pathology to the clinical heterogeneity of the condition.MethodsA prospective imaging study has been undertaken with 271 participants to systematically evaluate cerebellar grey and white matter alterations, cerebellar peduncle integrity and cerebro-cerebellar connectivity in ALS. Participants were stratified into four groups: (1) patients testing positive for GGGGCC repeat expansions in C9orf72, (2) patients carrying an intermediate-length repeat expansion in ATXN2, (3) patients without established ALS-associated mutations and (4) healthy controls. Additionally, the cerebellar profile of a single patient with ALS who had an ATXN2 allele length of 62 was evaluated. Cortical thickness, grey matter and white matter volumes were calculated in each cerebellar lobule complemented by morphometric analyses to characterise genotype-associated atrophy patterns. A Bayesian segmentation algorithm was used for superior cerebellar peduncle volumetry. White matter diffusivity parameters were appraised both within the cerebellum and in the cerebellar peduncles. Cerebro-cerebellar connectivity was assessed using deterministic tractography.ResultsCerebellar pathology was confined to lobules I–V of the anterior lobe in patients with sporadic ALS in contrast to the considerable posterior lobe and vermis disease burden identified in C9orf72 mutation carriers. Patients with intermediate ATXN2 expansions did not exhibit significant cerebellar pathology.ConclusionsFocal rather than global cerebellar degeneration characterises ALS. Pathognomonic ALS symptoms which are typically attributed to other anatomical regions, such as dysarthria, dysphagia, pseudobulbar affect, eye movement abnormalities and cognitive deficits, may be modulated, exacerbated or partially driven by cerebellar changes in ALS.

scholarly journals White matter differences between essential tremor and Parkinson disease

Neurology ◽  
2018 ◽  
Vol 92 (1) ◽  
pp. e30-e39 ◽  
Author(s):  
Meher R. Juttukonda ◽  
Giulia Franco ◽  
Dario J. Englot ◽  
Ya-Chen Lin ◽  
Kalen J. Petersen ◽  
...  
Keyword(s):  
White Matter ◽  
Parkinson Disease ◽  
Essential Tremor ◽  
Fractional Anisotropy ◽  
Diffusion Tensor ◽  
Mean Diffusivity ◽  
Superior Cerebellar Peduncle ◽  
Radial Diffusivity ◽  
Cerebellar Peduncles ◽  
Cerebellar Peduncle

ObjectiveTo assess white matter integrity in patients with essential tremor (ET) and Parkinson disease (PD) with moderate to severe motor impairment.MethodsSedated participants with ET (n = 57) or PD (n = 99) underwent diffusion tensor imaging (DTI) and fractional anisotropy, mean diffusivity, axial diffusivity, and radial diffusivity values were computed. White matter tracts were defined using 3 well-described atlases. To determine candidate white matter regions that differ between ET and PD groups, a bootstrapping analysis was applied using the least absolute shrinkage and selection operator. Linear regression was applied to assess magnitude and direction of differences in DTI metrics between ET and PD populations in the candidate regions.ResultsFractional anisotropy values that differentiate ET from PD localize primarily to thalamic and visual-related pathways, while diffusivity differences localized to the cerebellar peduncles. Patients with ET exhibited lower fractional anisotropy values than patients with PD in the lateral geniculate body (p < 0.01), sagittal stratum (p = 0.01), forceps major (p = 0.02), pontine crossing tract (p = 0.03), and retrolenticular internal capsule (p = 0.04). Patients with ET exhibited greater radial diffusivity values than patients with PD in the superior cerebellar peduncle (p < 0.01), middle cerebellar peduncle (p = 0.05), and inferior cerebellar peduncle (p = 0.05).ConclusionsRegionally, distinctive white matter microstructural values in patients with ET localize to the cerebellar peduncles and thalamo-cortical visual pathways. These findings complement recent functional imaging studies in ET but also extend our understanding of putative physiologic features that account for distinctions between ET and PD.

Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome

2021 ◽  
Author(s):  
Avner Meoded ◽  
Marcia Kukreja ◽  
Gunes Orman ◽  
Eugen Boltshauser ◽  
Thierry A.G.M. Huisman
Keyword(s):  
White Matter ◽  
Diffusion Tensor ◽  
Three Dimensional ◽  
Axonal Guidance ◽  
Molar Tooth ◽  
Superior Cerebellar Peduncle ◽  
Corticospinal Tracts ◽  
Cerebellar Peduncles ◽  
Cerebellar Peduncle ◽  
Magnetic Resonance Imaging Mri

AbstractWe report on the conventional and diffusion tensor imaging (DTI) findings of a 2-year-old child with clinical presentation of Joubert's Syndrome (JS) and brainstem structural abnormalities as depicted by neuroimaging.Conventional magnetic resonance imaging (MRI) showed a “molar tooth” configuration of the brainstem. A band-like formation coursing in an apparent axial plane anterior to the interpeduncular fossa was noted and appeared to partially cover the interpeduncular fossa.DTI maps and three-dimensional (3D) tractography demonstrated a prominent red-encoded white matter bundle anterior to the midbrain. Probable aberrant course of the bilateral corticospinal tracts (CST) was also depicted. Absence of the decussation of the superior cerebellar peduncles and elongated thickened, horizontal superior cerebellar peduncle (SCP) reflecting the molar tooth sign were also shown.Our report and the review of the published cases suggest that DTI and tractography may be very helpful to differentiate between interpeduncular heterotopias and similarly located white matter bundles corroborating the underlying etiology of axonal guidance disorders in the complex group of ciliopathies including JS. Our case represents an important additional puzzle piece to explore the variability of these ciliopathies.

scholarly journals Relationship between post-traumatic amnesia and white matter integrity in traumatic brain injury using tract-based spatial statistics

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Min Jye Cho ◽  
Sung Ho Jang
Keyword(s):  
Traumatic Brain Injury ◽  
White Matter ◽  
Patient Group ◽  
Injury Severity ◽  
White Matter Integrity ◽  
Superior Cerebellar Peduncle ◽  
Uncinate Fasciculus ◽  
Traumatic Amnesia ◽  
Post Traumatic ◽  
Cerebellar Peduncle

AbstractThis study used tract-based spatial statistics to examine the relationship between post-traumatic amnesia (PTA) and white matter integrity in patients with a traumatic brain injury (TBI). Forty-seven patients with TBI in the chronic stage and 47 age- and sex-matched normal control subjects were recruited to the study. Correlation coefficients were calculated to observe the relationships among the PTA duration, white matter fractional anisotropy (FA) values, and mini-mental state examination (MMSE) results in the patient group. Both before and after Benjamini–Hochberg (BH) corrections, FA values of 46 of the 48 regions of interests of the patient group were lower than those of the control group. The FA values of column and body of fornix, left crus of fornix, left uncinate fasciculus, right hippocampus part of cingulum, left medial lemniscus, right superior cerebellar peduncle, left superior cerebellar peduncle, and left posterior thalamic radiation (after BH correction: the uncinate fasciculus and right hippocampus part of cingulum) in the patient group were negatively correlated with PTA duration. PTA duration was related to the injury severity of eight neural structures, each of which is involved in the cognitive functioning of patients with TBI. Therefore, PTA duration can indicate injury severity of the above neural structures in TBI patients.

Are Anesthesia and Surgery during Infancy Associated with Decreased White Matter Integrity and Volume during Childhood?

2017 ◽  
Vol 127 (5) ◽  
pp. 788-799 ◽  
Author(s):  
Robert I. Block ◽  
Vincent A. Magnotta ◽  
Emine O. Bayman ◽  
James Y. Choi ◽  
Joss J. Thomas ◽  
...  
Keyword(s):  
White Matter ◽  
Mean Diffusivity ◽  
White Matter Integrity ◽  
Cerebral Peduncle ◽  
Intracranial Volume ◽  
Healthy Children ◽  
Superior Cerebellar Peduncle ◽  
Control Subjects ◽  
Brain White Matter ◽  
Cerebellar Peduncle

AbstractBackgroundAnesthetics have neurotoxic effects in neonatal animals. Relevant human evidence is limited. We sought such evidence in a structural neuroimaging study.MethodsTwo groups of children underwent structural magnetic resonance imaging: patients who, during infancy, had one of four operations commonly performed in otherwise healthy children and comparable, nonexposed control subjects. Total and regional brain tissue composition and volume, as well as regional indicators of white matter integrity (fractional anisotropy and mean diffusivity), were analyzed.ResultsAnalyses included 17 patients, without potential confounding central nervous system problems or risk factors, who had general anesthesia and surgery during infancy and 17 control subjects (age ranges, 12.3 to 15.2 yr and 12.6 to 15.1 yr, respectively). Whole brain white matter volume, as a percentage of total intracranial volume, was lower for the exposed than the nonexposed group, 37.3 ± 0.4% and 38.9 ± 0.4% (least squares mean ± SE), respectively, a difference of 1.5 percentage points (95% CI, 0.3 to 2.8; P = 0.016). Corresponding decreases were statistically significant for parietal and occipital lobes, infratentorium, and brainstem separately. White matter integrity was lower for the exposed than the nonexposed group in superior cerebellar peduncle, cerebral peduncle, external capsule, cingulum (cingulate gyrus), and fornix (cres) and/or stria terminalis. The groups did not differ in total intracranial, gray matter, and cerebrospinal fluid volumes.ConclusionsChildren who had anesthesia and surgery during infancy showed broadly distributed, decreased white matter integrity and volume. Although the findings may be related to anesthesia and surgery during infancy, other explanations are possible.

scholarly journals Severity of white matter hyperintensities: Lesion patterns, cognition, and microstructural changes

2019 ◽  
Vol 40 (12) ◽  
pp. 2454-2463 ◽  
Author(s):  
Weiyi Zeng ◽  
Yaojing Chen ◽  
Zhibao Zhu ◽  
Shudan Gao ◽  
Jianan Xia ◽  
...  
Keyword(s):  
White Matter ◽  
Episodic Memory ◽  
Specific Pattern ◽  
White Matter Hyperintensity ◽  
Common Finding ◽  
Superior Cerebellar Peduncle ◽  
Brain White Matter ◽  
Brain Microstructure ◽  
Cerebellar Peduncle ◽  
Fazekas Scale

White matter hyperintensity (WMH) is a common finding in aging population and considered to be a contributor to cognitive decline. Our study aimed to characterize the spatial patterns of WMH in different severities and explore its impact on cognition and brain microstructure in non-demented elderly. Lesions were both qualitatively (Fazekas scale) and quantitatively assessed among 321 community-dwelled individuals with MRI scanning. Voxel- and atlas-based analyses of the whole-brain white matter microstructure were performed. The WMH of the same severities was found to occur uniformly with a specific pattern of lesions. The severity of WMH had a significant negative association with the performance of working and episodic memory, beginning to appear in Fazekas 3 and 4. The white matter tracts presented significant impairments in Fazekas 3, which showed brain-wide changes above Fazekas 4. Lower FA in the superior cerebellar peduncle and left posterior thalamic radiation was mainly associated with episodic memory, and the middle cerebellar peduncle was significantly associated with working memory. These results support that memory is the primary domain to be affected by WMH, and the effect may potentially be influenced by tract-specific WM abnormalities. Fazekas scale 3 might be the critical stage predicting a future decline in cognition.

scholarly journals Spatiotemporal changes in along-tract profilometry of cerebellar peduncles in cerebellar mutism syndrome

2021 ◽  
Author(s):  
Sebastian M Toescu ◽  
Lisa Bruckert ◽  
Rashad Jabarkheel ◽  
Derek Yecies ◽  
Michael Zhang ◽  
...  
Keyword(s):  
Fractional Anisotropy ◽  
Distal Segment ◽  
Healthy Children ◽  
Superior Cerebellar Peduncle ◽  
Cerebellar Mutism ◽  
Cerebellar Peduncles ◽  
Cerebellar Peduncle ◽  
Specific Alteration ◽  
One Year ◽  
A Site

Cerebellar mutism syndrome, characterised by mutism, emotional lability and cerebellar motor signs, occurs in up to 40% of children following resection of medulloblastoma, the most common malignant posterior fossa tumour of childhood. Its pathophysiology remains unclear, but prior studies have implicated damage to the superior cerebellar peduncles. In this study, the objective was to conduct high-resolution spatial profilometry of the cerebellar peduncles and identify anatomic biomarkers of cerebellar mutism syndrome. Twenty-eight children with medulloblastoma (mean age 8.8, s.d. 3.8 years) underwent diffusion MRI at four timepoints over one year. Forty-nine healthy children (mean age 9.0, s.d. 4.2 years), scanned at a single timepoint, served as age- and sex-matched controls. Automated Fibre Quantification was used to segment cerebellar peduncles and compute fractional anisotropy at 30 nodes along each tract. Thirteen patients developed cerebellar mutism syndrome. Fractional anisotropy was significantly lower in the distal segments of the superior cerebellar peduncle pre-operatively in all patients (p=0.01). Pre-operative changes in fractional anisotropy did not predict cerebellar mutism syndrome. However, post-operative reductions in fractional anisotropy were highly specific to the distal left superior cerebellar peduncle, and were most pronounced at follow-up timepoints (p<0.04), in those that developed cerebellar mutism syndrome compared to patients that did not. High spatial resolution cerebellar profilometry identifies a site-specific alteration of the distal segment of the superior cerebellar peduncle unique to cerebellar mutism syndrome with important surgical implications in the treatment of these devastating tumours of childhood.

White Matter Microstructural Properties of the Superior Cerebellar Peduncles Predict Change in Internalizing Symptoms in Adolescent Girls

2021 ◽  
Author(s):  
Lauren Borchers ◽  
Lisa Bruckert ◽  
Rajpreet Chahal ◽  
Dana Mastrovito ◽  
Tiffany Ho ◽  
...  
Keyword(s):  
White Matter ◽  
Internalizing Symptoms ◽  
Externalizing Symptoms ◽  
Specific Marker ◽  
Cerebellar Peduncles ◽  
Cerebellar Peduncle ◽  
The Right ◽  
Symptom Changes ◽  
Internalizing And Externalizing ◽  
Internalizing And Externalizing Symptoms

Internalizing symptoms typically emerge in adolescence and are more prevalent in females than in males; in contrast, externalizing symptoms typically emerge in childhood and are more commonly observed in males. Previous research has implicated aspects of white matter organization, including fractional anisotropy (FA), of cerebral tracts in both internalizing and externalizing symptoms. Although the cerebellum has been posited to integrate limbic and cortical regions, its role in psychopathology is not well understood. In this longitudinal study, we investigated whether FA of the superior (SCP), middle, and inferior cerebellar peduncles predict change in symptoms and whether sex moderates this association. 111 adolescents completed the Youth Self-Report, assessing symptoms at baseline (ages 9-13 years) and again two years later. Participants also underwent diffusion-weighted imaging at baseline. We used deterministic tractography to segment and compute mean FA of the cerebellar peduncles. Lower FA of the right SCP at baseline predicted increases in internalizing symptoms in females only (t(103)=−0.47, p=.020). Lower FA in the right SCP and inferior cerebellar peduncle also predicted increases in externalizing symptoms, but these associations did not survive multiple comparisons correction. There was no association between FA of the cerebellar peduncles and change in symptoms in males, or between middle cerebellar peduncle FA and symptom changes in males or females. Organizational properties of the SCP may be a sex-specific marker of internalizing symptom changes in adolescence. The cerebellar peduncles should be explored further in future studies to elucidate sex differences in internalizing and externalizing symptoms.

Myelin paucity of the superior cerebellar peduncle in individuals with Friedreich ataxia: an MRI magnetization transfer imaging study

2014 ◽  
Vol 343 (1-2) ◽  
pp. 138-143 ◽  
Author(s):  
Louise A. Corben ◽  
Saman R. Kashuk ◽  
Hamed Akhlaghi ◽  
Sharna Jamadar ◽  
Martin B. Delatycki ◽  
...  
Keyword(s):  
Magnetization Transfer ◽  
Friedreich Ataxia ◽  
Imaging Study ◽  
Magnetization Transfer Imaging ◽  
Superior Cerebellar Peduncle ◽  
Cerebellar Peduncle
Sign in / Sign up

Export Citation Format

Share Document