Cerebellum最新文献

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Plasma miRNAs Correlate with Structural Brain and Cardiac Damage in Friedreich's Ataxia. 血浆mirna与弗里德赖希共济失调的结构性脑和心脏损伤相关。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-12-17 DOI: 10.1007/s12311-024-01766-y
Thiago M Peluzzo, André S Vieira, Alexandre H B Matos, Cynthia Silveira, Mariana Martin, Otávio R C Filho, Thiago J R Rezende, Alberto R M Martinez, Marcondes C França
{"title":"Plasma miRNAs Correlate with Structural Brain and Cardiac Damage in Friedreich's Ataxia.","authors":"Thiago M Peluzzo, André S Vieira, Alexandre H B Matos, Cynthia Silveira, Mariana Martin, Otávio R C Filho, Thiago J R Rezende, Alberto R M Martinez, Marcondes C França","doi":"10.1007/s12311-024-01766-y","DOIUrl":"10.1007/s12311-024-01766-y","url":null,"abstract":"<p><p>Friedreich's Ataxia (FRDA) is the most common autosomal recessive ataxia worldwide and is caused by biallelic unstable intronic GAA expansions at FXN. With its limited therapy and the recent approval of the first disease-modifying agent for FRDA, the search for biological markers is urgently needed to assist and ease the development of therapies. MiRNAs have emerged as promising biomarkers in various medical fields such as oncology, cardiology, epilepsy and neurology as well. Cell-free plasmatic miRNAs have potential advantages as biomarkers because of their size, stability against blood RNases, relative ease of obtaining, storage and measurement. In this study, we attempted to characterize the plasma miRNA signature (RNA-Seq followed by qRT-PCR) and its clinical/structural correlates in a cohort of Brazilian patients with FRDA. Our results showed that miR-26a-5p is upregulated and miR-15a-5p is downregulated. The first was correlated with age at onset, cerebellum volume, spinal cord cross-sectional area (C2-CSA) and the left ventricle mass (LV_Mass). For the miR-15a-5p, significant correlations were found with cerebellum volume, spinal cord eccentricity and LV_Mass. It has been previously hypothesized that these miRs target BDNF, modulating its expression and, when this gene is downregulated, it leads to neuronal loss, explaining the ataxic phenotype and our results reinforce this hypothesis. The miR-26a-5p was already associated with cardiomyocyte hypertrophy through the increased NLRP3 inflammasome activity, which is indirectly linked with cardiac hypertrophy. Considering that, we propose these miRNAs as possible prognostic biomarkers for FRDA. However, longitudinal studies are still needed to validate their clinical use.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 1","pages":"15"},"PeriodicalIF":2.7,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142840067","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Designing and Validating a Hereditary Spastic Paraplegia-Specific Quality of Life Rating Scale (HSPQoL). 设计和验证遗传性痉挛性截瘫特异性生活质量评定量表(HSPQoL)。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-12-17 DOI: 10.1007/s12311-024-01771-1
Sue Faye Siow, Jane Fleming, Kristine Barlow-Stewart, Gautam Wali, Kishore R Kumar, Carolyn M Sue
{"title":"Designing and Validating a Hereditary Spastic Paraplegia-Specific Quality of Life Rating Scale (HSPQoL).","authors":"Sue Faye Siow, Jane Fleming, Kristine Barlow-Stewart, Gautam Wali, Kishore R Kumar, Carolyn M Sue","doi":"10.1007/s12311-024-01771-1","DOIUrl":"10.1007/s12311-024-01771-1","url":null,"abstract":"<p><p>Patients with Hereditary Spastic Paraplegia (HSP) report reduced quality of life (QoL) compared to the general population. Generic QoL measures do not address disease-specific aspects such as spasticity, access to specialty HSP clinics, and bladder symptoms. We designed and validated a HSP-specific QoL scale (HSPQoL), intended for use in standard clinical settings and clinical trials. HSP-specific items were added to the RAND 36-Item Short Form Health Survey (SF-36) to form HSPQoL. Following literature review/expert input, 23 items were presented to a panel of HSP clinicians, patients, and patient representatives (n = 12) using a modified Delphi process. Items were ranked for clarity and relevance (inclusion criteria: 80% consensus). 21/23 items met the inclusion criteria. Interviews with patients (n = 5) assessed suitability, comprehension, clarity, and response options to additional items. Based on cognitive interview results, items were modified (n=4), removed (n=7), or added (n=3). Sixty-one patients completed the HSPQoL and EQ5D-5L for evaluation of construct validity and 19 patients repeated the HSPQoL for evaluation of test-retest reliability. 15/17 additional items moderately to strongly correlated with pre-existing SF-36 subscores (Spearman correlation 0.319-0.771, p < 0.05). Exploratory factor analyses showed high percentage of variance in the first component (> 45%). HSPQoL demonstrated good internal consistency (Cronbach alpha 0.94), test-retest reliability (ICC 0.957), and convergent validity with EQ5D-5L (r = 0.725). In conclusion, demonstrated validity and reliability of the HSPQoL confirms consideration of its use for assessing specific QoL in individuals with HSP.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 1","pages":"14"},"PeriodicalIF":2.7,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11649815/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142840066","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Case Series of Cerebellar Ataxia with Tremor Due to Heterozygous STUB1 Variants (SCA48) without TBP Expansions: Further Evidence for SCA48 as a Monogenic Disease. 没有TBP扩张的杂合STUB1变异(SCA48)引起的小脑性共济失调伴震颤病例系列:进一步证明SCA48是一种单基因疾病。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-12-16 DOI: 10.1007/s12311-024-01762-2
Yan Zochowski, Kishore R Kumar, Matthew Katz, Paul Darveniza, Michel Tchan, Renee Smyth, Susan Tomlinson, Kathy H C Wu, Stephen Tisch
{"title":"Case Series of Cerebellar Ataxia with Tremor Due to Heterozygous STUB1 Variants (SCA48) without TBP Expansions: Further Evidence for SCA48 as a Monogenic Disease.","authors":"Yan Zochowski, Kishore R Kumar, Matthew Katz, Paul Darveniza, Michel Tchan, Renee Smyth, Susan Tomlinson, Kathy H C Wu, Stephen Tisch","doi":"10.1007/s12311-024-01762-2","DOIUrl":"10.1007/s12311-024-01762-2","url":null,"abstract":"<p><p>Clinically-relevant variants in the STUB1 gene have been associated with an autosomal dominant spinocerebellar ataxia 48 (SCA48), a recently described inherited neurodegenerative condition that is characterised by cognitive and psychiatric changes. To describe the clinical phenotype and genetic findings of three new Australian probands with STUB1 to expand the current understanding of the spectrum of clinical presentation and natural history of SCA48. Clinical and genetic review of patients diagnosed with SCA48 ataxia drawn from our centres. The third case was derived from a collaborating centre (Royal Brisbane Hospital). We identified three unrelated SCA48 patients with heterozygous pathogenic STUB1 variants. All presented with slowly progressive cerebellar ataxia with tremor and additional findings of dysarthria, parkinsonism, hypertonia, cognitive and psychiatric symptoms. Age of onset varied from 34 to 65 years of age. Brain MRI showed significant diffuse cerebellar atrophy, affecting the vermis and cerebellar hemispheres. We identified two novel pathogenic variants of STUB1 gene, and one previously reported pathogenic variant. Genetic testing for intermediate expansions of TBP (SCA17) identified TBP repeats within the normal range of 25-40 in all 3 probands. Our case series expands the clinical spectrum of SCA48. We highlight the importance of tremor as part of the clinical phenotype including upper limb rest tremor and Parkinsonian signs. Our cases lacked pathological TBP expansions and provide additional evidence that STUB1 (SCA48) can manifest as a monogenic disease.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 1","pages":"13"},"PeriodicalIF":2.7,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11649839/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142830767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Quantitative Oculomotor and Vestibular Profile in Spinocerebellar Ataxia Type 6 - Systematic Review and Meta-Analysis. 脊髓小脑共济失调 6 型的眼球运动和前庭定量特征 - 系统回顾和元分析。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-12-15 DOI: 10.1007/s12311-024-01774-y
Alexander A Tarnutzer, Pilar Garces, Chrystalina A Antoniades
{"title":"Quantitative Oculomotor and Vestibular Profile in Spinocerebellar Ataxia Type 6 - Systematic Review and Meta-Analysis.","authors":"Alexander A Tarnutzer, Pilar Garces, Chrystalina A Antoniades","doi":"10.1007/s12311-024-01774-y","DOIUrl":"10.1007/s12311-024-01774-y","url":null,"abstract":"<p><p>Whereas several studies have reported on quantitative oculomotor and vestibular measurements in spinocerebellar ataxia type 6 (SCA6), selecting the most suitable paradigms remains challenging. We aimed to address this knowledge gap through a systematic literature review and providing disease-specific recommendations for a tailored set of eye-movement recordings in SCA6. A literature search (MEDLINE, Embase) was performed focusing on studies reporting on quantitative oculomotor and/or vestibular measurements in SCA6-patients. Oculomotor and vestibular parameters were extracted and correlations with various epidemiologic and clinical parameters were sought. Twenty-two studies were included reporting on 154 patients. Abnormalities observed included reduced pursuit gain (58/69), frequent square-wave jerks (23/40), spontaneous downbeat nystagmus (DBN, 34/55) and triggered nystagmus including positional nystagmus (25/34) and vertical (\"perverted\") head-shaking nystagmus (21/34), gaze-evoked nystagmus (48/70) and angular vestibulo-ocular reflex (aVOR)-suppression (21/25), and high-frequency aVOR-deficits (26/33). For horizontal visually-guided saccades (VGS), changes in metrics (36/66) were frequently observed, whereas saccade velocity was usually preserved (39/44) and saccade latency within normal limits. Reduced high-frequency aVOR gains, VGS-latency and metrics correlated with disease severity. Longitudinal data indicated deterioration of individual video-head-impulse testing gains over time. A broad range of oculomotor and vestibular domains are affected in SCA6. Impairments in pursuit, saccade metrics, gaze-holding (gaze-evoked nystagmus, DBN) and high-frequency aVOR were most frequently identified and as such, should be prioritized as disease markers. Quantitative oculomotor testing in SCA6 may facilitate an early diagnosis and prove valuable in monitoring disease progression.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 1","pages":"12"},"PeriodicalIF":2.7,"publicationDate":"2024-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11646955/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142830701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Gait Velocity Alterations in Essential Tremor: a Meta-Analysis. 原发性震颤的步态速度改变:一项荟萃分析。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-12-13 DOI: 10.1007/s12311-024-01763-1
Kenneth Harrison, Brandon M Peoples, Keven G Santamaria Guzman, Emily J Hunter, Harrison C Walker, Jaimie A Roper
{"title":"Gait Velocity Alterations in Essential Tremor: a Meta-Analysis.","authors":"Kenneth Harrison, Brandon M Peoples, Keven G Santamaria Guzman, Emily J Hunter, Harrison C Walker, Jaimie A Roper","doi":"10.1007/s12311-024-01763-1","DOIUrl":"10.1007/s12311-024-01763-1","url":null,"abstract":"<p><p>Essential tremor (ET) is a prevalent movement disorder that impairs gait function, including gait speed - a critical marker of mobility disability and adverse outcomes. This meta-analysis aimed to quantify differences in gait speed between individuals diagnosed with ET compared to people without a movement disorder diagnosis. Electronic databases were searched for studies comparing gait speed in ET patients and controls. Effect sizes were calculated using standardized mean differences (Hedges' g) and pooled using a random-effects model. Eight studies (390 ET, 227 controls) were included. ET patients exhibited significantly slower gait speeds than controls. The effect size (Hedges' g = -1.06, 95% CI -1.47 to -0.65, p < .001) indicates a large, clinically significant difference. Substantial study heterogeneity was observed (I<sup>2</sup> = 76.9%). These findings suggest that gait speed deficits are a significant feature of ET, potentially reflecting cerebellar dysfunction. This highlights the need for gait assessment and targeted interventions in ET management to reduce fall risk and improve quality of life. Understanding the moderating factors such as medication type and state, disorder severity, and age could provide significant benefits in the treatment and management of ET.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 1","pages":"11"},"PeriodicalIF":2.7,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645424/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142820086","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Glutamic Acid Decarboxylase 65 Antibody-associated Epilepsy and Diplopia: Two Case Reports with Literature Review. 谷氨酸脱羧酶65抗体相关癫痫和复视2例报告并文献复习。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-12-11 DOI: 10.1007/s12311-024-01768-w
Bofei Chen, Yi Shi, Jiahui Guo, Zhiruo Qiu, Beibei Shen, Lina Jiang, Jiajia Fang
{"title":"Glutamic Acid Decarboxylase 65 Antibody-associated Epilepsy and Diplopia: Two Case Reports with Literature Review.","authors":"Bofei Chen, Yi Shi, Jiahui Guo, Zhiruo Qiu, Beibei Shen, Lina Jiang, Jiajia Fang","doi":"10.1007/s12311-024-01768-w","DOIUrl":"10.1007/s12311-024-01768-w","url":null,"abstract":"<p><p>Glutamic acid decarboxylase 65 (GAD65) antibody-associated epilepsy and diplopia are relatively rare. This article retrospectively analyzed the disease development, diagnosis and treatment process of two cases of GAD65-associated epilepsy with diplopia. Both patients initially exhibited seizures, followed by the onset of diplopia and nystagmus. Due to differences in their diagnostic processes, the two patients showed varying prognoses after treatment. When diplopia and nystagmus are present in patients with epilepsy, these symptoms are often easily attributed to the side effects of antiepileptic medications or not associated with the epilepsy, potentially leading to the oversight of the possibility of GAD65 neurological syndrome. Therefore, clinicians should be aware of the potential association of anti-GAD65 antibodies in epilepsy patients presenting with diplopia, avoidance of missed diagnosis. Furthermore, diplopia and nystagmus may be precursors to ataxia, therefore, when diplopia occurs, proactive treatment should be initiated to prevent disease progression and avoid poor patient outcomes.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 1","pages":"9"},"PeriodicalIF":2.7,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11632011/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142808593","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Microstructural Alterations of Cerebellar Peduncles in Relapsing Remitting Multiple Sclerosis: a Systematic Review and Meta-Analysis of Diffusion Tensor Imaging Studies. 复发缓解型多发性硬化小脑脚微结构改变:扩散张量成像研究的系统回顾和荟萃分析。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-12-11 DOI: 10.1007/s12311-024-01764-0
Nima Broomand Lomer, Alia Saberi, Kamal AmirAshjei Asalemi, Kasra Sarlak
{"title":"Microstructural Alterations of Cerebellar Peduncles in Relapsing Remitting Multiple Sclerosis: a Systematic Review and Meta-Analysis of Diffusion Tensor Imaging Studies.","authors":"Nima Broomand Lomer, Alia Saberi, Kamal AmirAshjei Asalemi, Kasra Sarlak","doi":"10.1007/s12311-024-01764-0","DOIUrl":"10.1007/s12311-024-01764-0","url":null,"abstract":"<p><p>Damage to cerebellar peduncles is common in patients with relapsing-remitting multiple sclerosis (RRMS). This can lead to a diverse range of motor and cognitive disabilities. Here, we aimed to evaluate the quantitative alterations of cerebellar peduncles using diffusion tensor imaging (DTI). After a comprehensive search in Web of Science, PubMed, Embase, and Scopus and a rigorous screening, eligible studies underwent data extraction and risk of bias assessment. Standardized Mean Difference (SMD) with a 95% CI was used as effect size. We compared DTI metrics in the cerebellar peduncle regions (SCP, MCP, ICP) between RRMS patients and healthy controls (HC). Sensitivity analysis employed the leave-one-out method. Contour-enhanced funnel plots and Pustejovsky test were used to evaluate the publication bias. Additionally, subgroup analysis was performed using available variables. In eleven included studies encompassing 623 RRMS patients and 416 HC, RRMS patients exhibited significantly decreased fractional anisotropy (FA) values in the SCP (SMD - 0.26) and MCP (SMD - 1.03), increased mean diffusivity (MD) values in the SCP (SMD 1.46), MCP (SMD 0.48) and ICP (SMD 0.70), elevated radial diffusivity (RD) values in the MCP (SMD 0.85) and ICP (SMD 1.20) compared to HC. The subgroup analysis revealed that individuals with elevated EDSS scores exhibited reduced FA and increased MD in the SCP region. No considerable publication bias was detected. No outliers were detected in the sensitivity analysis. DTI proves promising for identifying microstructural abnormalities in cerebellar peduncles of RRMS patients, with decreased FA and increased RD, and MD values observed.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 1","pages":"10"},"PeriodicalIF":2.7,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142808594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
F-Wave Features in Most Common Chinese Spinocerebellar Ataxias. 中国人最常见脊髓小脑共济失调的f波特征。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-12-10 DOI: 10.1007/s12311-024-01753-3
Qiong Cai, Huajing You, Wenxiao Xu, Jiajing Yuan, Xunhua Li, Chao Wu, Songjie Liao
{"title":"F-Wave Features in Most Common Chinese Spinocerebellar Ataxias.","authors":"Qiong Cai, Huajing You, Wenxiao Xu, Jiajing Yuan, Xunhua Li, Chao Wu, Songjie Liao","doi":"10.1007/s12311-024-01753-3","DOIUrl":"10.1007/s12311-024-01753-3","url":null,"abstract":"<p><p>The use of F-wave study may help to gain insight into electrophysiological significance of spinocerebellar Ataxias (SCAs). Particularly, the difference of F-wave features between Chinese SCA1, SCA2 and SCA3 patients were scarcely reported. 20 SCA1, 20 SCA2, 46 SCA3 patients and 30 healthy controls underwent nerve (median, ulnar, tibial) conduction and F-wave studies, and electrophysiology parameters were compared between them. Clinical data including ataxia and non-ataxia features was recorded. The study revealed peripheral neuropathological involvement in 80% of SCA1, 100% of SCA2, and 50% of SCA3 Chinese patients. Most patients of all subtypes presented with sensory neuropathy, and F-wave changes. We observed that SCA1 patients had prolonged F-wave latency as well as increased maximum F-wave amplitude and F/M amplitude ratio compared to controls for the first time. Besides, SCA2 patients had decreased F-wave persistence as well as increased maximum F-wave amplitude, F/M amplitude ratio and frequency of giant F-wave. The maximum amplitude of SCA1 correlated positively with disease severity and disease duration. The value of F/M amplitude ratio of SCA2 correlated positively with disease duration. In all subtypes, F-wave of the tibial nerve was the most sensitive measurement index. This study exhibits F-wave characteristics and inter-group differences of the most common Chinese SCAs. F-wave may be a potential biomarker for evaluating the progression of SCAs.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 1","pages":"8"},"PeriodicalIF":2.7,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142808544","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Novel Variant of the CTSD Gene Associated with Juvenile-onset Neuronal Ceroid Lipofuscinosis Type 10: A Case Report and Literature Review. CTSD基因的一种新变异与青少年发病的神经性脑蜡样脂褐质病10型相关:一例报告和文献综述。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-12-10 DOI: 10.1007/s12311-024-01773-z
Sultan Çiçek, Miraç Yıldırım, Fatma Pınar Tabanlı, Engin Köse, Ömer Bektaş, Serap Teber
{"title":"A Novel Variant of the CTSD Gene Associated with Juvenile-onset Neuronal Ceroid Lipofuscinosis Type 10: A Case Report and Literature Review.","authors":"Sultan Çiçek, Miraç Yıldırım, Fatma Pınar Tabanlı, Engin Köse, Ömer Bektaş, Serap Teber","doi":"10.1007/s12311-024-01773-z","DOIUrl":"10.1007/s12311-024-01773-z","url":null,"abstract":"<p><p>Neuronal ceroid lipofuscinosis type 10 (NCL10) is a rare progressive neurodegenerative disease associated with homozygous or compound heterozygous mutations in the CTSD gene encoding cathepsin D protein. It is classified as congenital, infantile, or juvenile NCL10 according to the age at onset of symptoms. Six cases of juvenile onset NCL10 (JNCL10) have been reported thus far in the literature. Herein, we report a nine-year-six-month-old girl with speech disorders, cognitive and motor decline, ataxia, and visual impairment. Developmental milestones were reported to be normal up to the age of 7 years. Biochemical and metabolic studies were normal. Electroencephalography showed intermittent generalized high-amplitude delta-wave activity during light sleep. Brain magnetic resonance imaging showed mild cerebellar atrophy. Whole-exome sequencing (WES) revealed a novel homozygous missense variant of c.1097G > A (p. Cys366Tyr) in the CTSD gene. Based on clinical, laboratory, and genetic findings, the patient was diagnosed with JNCL10. To the best of our knowledge, this is a novel variant and the first case reported in Turkey, and it is important in terms of broadening ethnicity and the spectrum of EEG findings.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 1","pages":"7"},"PeriodicalIF":2.7,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142803049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Heterogeneous Brain Dynamics Between Acute Cerebellar and Brainstem Infarction. 急性小脑和脑干梗死的异质性脑动力学。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-12-09 DOI: 10.1007/s12311-024-01770-2
Mingqing Jiang, Feng Xu, Ziye Lei, Xiu Chen, Hua Luo, Zhong Zheng, Dechou Zhang, Yongshu Lan, Jianghai Ruan
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