Flattened facial colliculus on magnetic resonance imaging in Machado–Joseph disease

Ogawa, Yoshitsugu; Ito, Shingo; Makino, Takahiro; Kanai, Kazuaki; Arai, Kimihito; Kuwabara, Satoshi

doi:10.1002/mds.25060

Cited by 6 publications

(5 citation statements)

References 26 publications

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“…Finally, we included a total of 29 articles in this review. Twenty papers examined structural MRI [volumetric: n = 12 (Bürk et al, 1996;Etchebehere et al, 2001;Yoshizawa et al, 2003;Liang et al, 2009;Schulz et al, 2010;Camargos et al, 2011;D'Abreu et al, 2011;Ogawa et al, 2012;De Rezende et al, 2015;Nunes et al, 2015;Rezende et al, 2018;Jao et al, 2019b), voxel-based morphometry (VBM): n = 8 (Schulz et al, 2010;D'Abreu et al, 2012;Guimarães et al, 2013;Lopes et al, 2013;Kang et al, 2014;Hernandez-Castillo et al, 2017;Peng et al, 2019;Guo et al, 2020), and surface analysis: n = 4 (De Nunes et al, 2015;Rezende et al, 2018;Arruda et al, 2020)], seven papers examined MRS (Lei et al, 2011;Lirng et al, 2012;Wang et al, 2012;Lopes et al, 2013;Chen et al, 2014;Adanyeguh et al, 2015;Peng et al, 2019), and ten papers examined DTI (Guimarães et al, 2013;Lopes et al, 2013;Kang et al, 2014;Nunes et al, 2015;Wu et al, 2017;Rezende et al, 2018;Jao et al, 2019a;Peng et al, 2019;Meira et al, ...…”

Section: Data Extraction and Analysismentioning

confidence: 99%

“…Ten studies analyzed the volumetric changes in the cerebellum of SCA3 patients (Bürk et al, 1996;Etchebehere et al, 2001;Liang et al, 2009;Schulz et al, 2010;Camargos et al, 2011;Ogawa et al, 2012;De Rezende et al, 2015;Nunes et al, 2015;Rezende et al, 2018;Jao et al, 2019b). These studies consistently reported atrophy in the overall cerebellum, including cerebellar hemispheres and vermis.…”

Section: Cerebellummentioning

confidence: 99%

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Magnetic Resonance Imaging and Its Clinical Correlation in Spinocerebellar Ataxia Type 3: A Systematic Review

et al. 2022

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BackgroundSpinocerebellar ataxia type 3 (SCA3) is a complex cerebrocerebellar disease primarily characterized by ataxia symptoms alongside motor and cognitive impairments. The heterogeneous clinical presentation of SCA3 necessitates correlations between magnetic resonance imaging (MRI) and clinical findings in reflecting progressive disease changes. At present, an attempt to systematically examine the brain-behavior relationship in SCA3, specifically, the correlation between MRI and clinical findings, is lacking.ObjectiveWe investigated the association strength between MRI abnormality and each clinical symptom to understand the brain-behavior relationship in SCA3.MethodsWe conducted a systematic review on Medline and Scopus to review studies evaluating the brain MRI profile of SCA3 using structural MRI (volumetric, voxel-based morphometry, surface analysis), magnetic resonance spectroscopy, and diffusion tensor imaging, including their correlations with clinical outcomes.ResultsOf 1,767 articles identified, 29 articles met the eligibility criteria. According to the National Institutes of Health quality assessment tool for case-control studies, all articles were of excellent quality. This systematic review found that SCA3 neuropathology contributes to widespread brain degeneration, affecting the cerebellum and brainstem. The disease gradually impedes the cerebral cortex and basal ganglia in the late stages of SCA3. Most findings reported moderate correlations (r = 0.30–0.49) between MRI features in several regions and clinical findings. Regardless of the MRI techniques, most studies focused on the brainstem and cerebellum.ConclusionsClinical findings suggest that rather than individual brain regions, the connectivity between different brain regions in distributed networks (i.e., cerebellar-cerebral network) may be responsible for motor and neurocognitive function in SCA3. This review highlights the importance of evaluating the progressive changes of the cerebellar-cerebral networks in SCA3 patients, specifically the functional connectivity. Given the relative lack of knowledge about functional connectivity on SCA3, future studies should investigate possible functional connectivity abnormalities in SCA3 using fMRI.

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Section: Data Extraction and Analysismentioning

confidence: 99%

Section: Cerebellummentioning

confidence: 99%

Magnetic Resonance Imaging and Its Clinical Correlation in Spinocerebellar Ataxia Type 3: A Systematic Review

et al. 2022

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“…In addition, the atrophic process is not parallel between the pontine base and tegmentum. [ 17 31 32 ] We found the ratio of the pontine tegmentum and the posterior fossa area was negatively correlated with the number of CAG repeats. In addition, it is worth noting that the common appearance of a vertical line with high signal change in the pons on T2WI in SCA3/MJD, indicating the atrophy of pons, plays an important role in pathological process.…”

Section: Discussionmentioning

confidence: 86%

Clinical Characteristics, Radiological Features and Gene Mutation in 10 Chinese Families with Spinocerebellar Ataxias

Chen

Zhao

Zhang

et al. 2015

Chinese Medical Journal

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Background:Spinocerebellar ataxias (SCAs) are a group of neurodegenerative disorders that primarily cause the degeneration in the cerebellum, spinal cord, and brainstem. We study the clinical characteristics, radiological features and gene mutation in Chinese families with SCAs.Methods:In this study, we investigated 10 SCAs Chinese families with SCA1, SCA3/Machado–Joseph disease (MJD), SCA7, SCA8. There were 27 people who were genetically diagnosed as SCA, of which 21 people showed clinical symptoms, and 6 people had no clinical phenotype that we called them presymptomatic patients. In addition, 3 people with cerebellar ataxia and cataracts were diagnosed according to the Harding diagnostic criteria but failed to be recognized as SCAs on genetic testing. Clinical characteristic analyses of each type of SCAs and radiological examinations were performed.Results:We found that SCA3/MJD was the most common subtype in Han population in China, and the ratio of the pontine tegmentum and the posterior fossa area was negatively correlated with the number of cytosine-adenine-guanine (CAG) repeats; the disease duration was positively correlated with the International Cooperative Ataxia Rating Scale score; and the CAG repeats number of abnormal alleles was negatively correlated with the age of onset.Conclusions:Collectively our study is a systematic research on SCAs in China, which may help for the clinical diagnosis and prenatal screening of this disease, and it may also aid toward better understanding of this disease.

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“…A morphometric study of the surface structure of the brainstem showed that the rostrocaudal length of the FC was approximately 3 mm and the ventrodorsal elevation was 0.73 ± 0.30 mm. 5,6) In patients with a structural disorder of the brainstem, the average length between the median sulcus and the medial border of the FC was reported to be 1.9 mm (0.3-7.9 mm). 7) The CE-FIESTA used in this study had a FOV of 20 cm and a matrix size of 512 × 512; therefore, the size of one pixel was 0.39 mm.…”

Section: Identification Of the Fc In 2d Imagesmentioning

confidence: 99%

“…3,4) The FC is a microstructure with a rostrocaudal length of approximately 3 mm and a ventrodorsal elevation of 0.73 ± 0.30 mm. 5,6) It is not easy to accurately identify the FC by magnetic resonance imaging (MRI). 7,8) Although there are no reports on the identification methods or their accuracy in identifying the FC on preoperative MRI of patients with BCM, it has been reported that threedimensional (3D) images are useful for visualizing the structure of the brainstem surface.…”

Section: Introductionmentioning

confidence: 99%

Identification of the Facial Colliculus in Two-dimensional and Three-dimensional Images

Uchida

Kin

Koike

et al. 2021

Neurol. Med. Chir.(Tokyo)

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The facial colliculus (FC), an important landmark for planning a surgical approach to brainstem cavernous malformation (BCM), is a microstructure; therefore, it may be difficult to identify on magnetic resonance imaging (MRI). Three-dimensional (3D) images may improve the FC-identification certainty; hence, this study attempted to validate the FC-identification certainty between two-dimensional (2D) and 3D images of patients with a normal brainstem and those with BCM. In this retrospective study, we included 10 patients with a normal brainstem and 10 patients who underwent surgery for BCM. The region of the FC in 2D and 3D images was independently identified by three neurosurgeons, three times in each case, using the method for continuously distributed test results (0-100). The intra-and inter-rater reliability of the identification certainty were confirmed using the intraclass correlation coefficient (ICC). The FC-identification certainty for 2D and 3D images was compared using the Wilcoxon signed-rank test. The ICC (1,3) and ICC (3,3) in both groups ranged from 0.88 to 0.99; therefore, the intra-and inter-rater reliability were good. In both groups, the FCidentification certainty was significantly higher for 3D images than for 2D images (normal brainstem group; 82.4 vs. 61.5, P = .0020, BCM group; 40.2 vs. 24.6, P = .0059 for the unaffected side, 29.3 vs. 17.3, P = .0020 for the affected side). In the normal brainstem and BCM groups, 3D images had better FC-identification certainty. 3D images are effective for the identification of the FC.

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Flattened facial colliculus on magnetic resonance imaging in Machado–Joseph disease

Cited by 6 publications

References 26 publications

Magnetic Resonance Imaging and Its Clinical Correlation in Spinocerebellar Ataxia Type 3: A Systematic Review

Magnetic Resonance Imaging and Its Clinical Correlation in Spinocerebellar Ataxia Type 3: A Systematic Review

Clinical Characteristics, Radiological Features and Gene Mutation in 10 Chinese Families with Spinocerebellar Ataxias

Identification of the Facial Colliculus in Two-dimensional and Three-dimensional Images

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