Diagnostic Yield of NGS Tests for Hereditary Ataxia: a Systematic Review
Cerebellum. 2023 Nov 11. doi: 10.1007/s12311-023-01629-y. Online ahead of print.ABSTRACTNext-generation sequencing (NGS), comprising targeted panels (TP), exome sequencing (ES), and genome sequencing (GS) became robust clinical tools for diagnosing hereditary ataxia (HA). Determining their diagnostic yield (DY) is crucial for optimal clinical decision-making. We conducted a comprehensive systematic literature review on the DY of NGS tests for HA. We searched PubMed and Embase databases for relevant studies between 2016 and 2022 and manually examined reference lists of relevant reviews. Eligible studies described the DY of ...
Source: Cerebellum - November 10, 2023 Category: Neuroscience Authors: Renata Barreto Tenorio Carlos Henrique F Camargo Karina Carvalho Donis Claudia Choma Bettega Almeida H élio A G Teive Source Type: research
"Hot Cross Bun" Sign in a Patient with Glutamic Acid Decarboxylase 65-KDa Isoform Associated Cerebellar Ataxia: Case Report and Review of the Literature
Cerebellum. 2023 Nov 10. doi: 10.1007/s12311-023-01631-4. Online ahead of print.ABSTRACTThe "hot cross bun" sign (HCBs) is a cruciform hyperintensity on T2-weighted imaging within the pons initially found in patients diagnosed as multiple system atrophy. However, recent findings have broadened the disease spectrum presented with HCBs. Here is a case report at an academic medical center. Cerebral magnetic resonance imaging (MRI), electroneuromyography, serum, and CSF analysis were performed. Literature is comprehensively reviewed. We investigated a woman presented with blurred speech and cerebellar ataxia. Her MRI showed th...
Source: Cerebellum - November 10, 2023 Category: Neuroscience Authors: Ruo-Nan Duan Jing-Zhen He Li-Li Cao Source Type: research
The Neuroimmune System and the Cerebellum
This article is meant to provide a brief introduction to the cellular and molecular components of the brain immune system, its functions, and what is known about its role in the cerebellum. The majority of this information comes from studies of animal models and pathological conditions, where upregulation of the system facilitates investigation of its actions.PMID:37950146 | DOI:10.1007/s12311-023-01624-3 (Source: Cerebellum)
Source: Cerebellum - November 10, 2023 Category: Neuroscience Authors: Donna L Gruol Source Type: research
Diagnostic Yield of NGS Tests for Hereditary Ataxia: a Systematic Review
Cerebellum. 2023 Nov 11. doi: 10.1007/s12311-023-01629-y. Online ahead of print.ABSTRACTNext-generation sequencing (NGS), comprising targeted panels (TP), exome sequencing (ES), and genome sequencing (GS) became robust clinical tools for diagnosing hereditary ataxia (HA). Determining their diagnostic yield (DY) is crucial for optimal clinical decision-making. We conducted a comprehensive systematic literature review on the DY of NGS tests for HA. We searched PubMed and Embase databases for relevant studies between 2016 and 2022 and manually examined reference lists of relevant reviews. Eligible studies described the DY of ...
Source: Cerebellum - November 10, 2023 Category: Neuroscience Authors: Renata Barreto Tenorio Carlos Henrique F Camargo Karina Carvalho Donis Claudia Choma Bettega Almeida H élio A G Teive Source Type: research
"Hot Cross Bun" Sign in a Patient with Glutamic Acid Decarboxylase 65-KDa Isoform Associated Cerebellar Ataxia: Case Report and Review of the Literature
Cerebellum. 2023 Nov 10. doi: 10.1007/s12311-023-01631-4. Online ahead of print.ABSTRACTThe "hot cross bun" sign (HCBs) is a cruciform hyperintensity on T2-weighted imaging within the pons initially found in patients diagnosed as multiple system atrophy. However, recent findings have broadened the disease spectrum presented with HCBs. Here is a case report at an academic medical center. Cerebral magnetic resonance imaging (MRI), electroneuromyography, serum, and CSF analysis were performed. Literature is comprehensively reviewed. We investigated a woman presented with blurred speech and cerebellar ataxia. Her MRI showed th...
Source: Cerebellum - November 10, 2023 Category: Neuroscience Authors: Ruo-Nan Duan Jing-Zhen He Li-Li Cao Source Type: research
The Neuroimmune System and the Cerebellum
This article is meant to provide a brief introduction to the cellular and molecular components of the brain immune system, its functions, and what is known about its role in the cerebellum. The majority of this information comes from studies of animal models and pathological conditions, where upregulation of the system facilitates investigation of its actions.PMID:37950146 | DOI:10.1007/s12311-023-01624-3 (Source: Cerebellum)
Source: Cerebellum - November 10, 2023 Category: Neuroscience Authors: Donna L Gruol Source Type: research
Diagnostic Yield of NGS Tests for Hereditary Ataxia: a Systematic Review
Cerebellum. 2023 Nov 11. doi: 10.1007/s12311-023-01629-y. Online ahead of print.ABSTRACTNext-generation sequencing (NGS), comprising targeted panels (TP), exome sequencing (ES), and genome sequencing (GS) became robust clinical tools for diagnosing hereditary ataxia (HA). Determining their diagnostic yield (DY) is crucial for optimal clinical decision-making. We conducted a comprehensive systematic literature review on the DY of NGS tests for HA. We searched PubMed and Embase databases for relevant studies between 2016 and 2022 and manually examined reference lists of relevant reviews. Eligible studies described the DY of ...
Source: Cerebellum - November 10, 2023 Category: Neuroscience Authors: Renata Barreto Tenorio Carlos Henrique F Camargo Karina Carvalho Donis Claudia Choma Bettega Almeida H élio A G Teive Source Type: research
Patient-Reported Outcome Measure of Ataxia Correlates with Canonical Clinical Assessments in Chinese Spinocerebellar Ataxias
Cerebellum. 2023 Nov 9. doi: 10.1007/s12311-023-01630-5. Online ahead of print.ABSTRACTSpinocerebellar ataxia (SCA) patients' reports of their own experiences are essential to the outcome evaluation in clinical trials. To better understand the health condition and well-being of ataxia population, Patient-Reported Outcome Measure of Ataxia (PROM-Ataxia) was developed. The aim of our study was to culturally adapt the PROM-Ataxia into Chinese version and assess its correlation with canonical clinical assessments. We translated the PROM-Ataxia into Chinese following the ISPOR TCA Task Force guidelines and evaluated its correla...
Source: Cerebellum - November 9, 2023 Category: Neuroscience Authors: Huajing You Qiong Cai Ziyue Ouyang Xunhua Li Chao Wu Source Type: research
Patient-Reported Outcome Measure of Ataxia Correlates with Canonical Clinical Assessments in Chinese Spinocerebellar Ataxias
Cerebellum. 2023 Nov 9. doi: 10.1007/s12311-023-01630-5. Online ahead of print.ABSTRACTSpinocerebellar ataxia (SCA) patients' reports of their own experiences are essential to the outcome evaluation in clinical trials. To better understand the health condition and well-being of ataxia population, Patient-Reported Outcome Measure of Ataxia (PROM-Ataxia) was developed. The aim of our study was to culturally adapt the PROM-Ataxia into Chinese version and assess its correlation with canonical clinical assessments. We translated the PROM-Ataxia into Chinese following the ISPOR TCA Task Force guidelines and evaluated its correla...
Source: Cerebellum - November 9, 2023 Category: Neuroscience Authors: Huajing You Qiong Cai Ziyue Ouyang Xunhua Li Chao Wu Source Type: research
Relationship of Morphometrics and Symptom Severity in Female Type I Chiari Malformation Patients with Biological Resilience
Cerebellum. 2023 Nov 7. doi: 10.1007/s12311-023-01627-0. Online ahead of print.ABSTRACTIn the present study we report the relationship among MRI-based skull and cervical spine morphometric measures as well as symptom severity (disability-as measured by Oswestry Head and Neck Pain Scale and social isolation-as measured by the UCLA Loneliness scale) on biomarkers of allostatic load using estrogen, interleukin-6, C-reactive protein, and cortisol in a sample of 46 CMI patients. Correlational analyses showed that McRae line length was negatively associated with interleukin-6 and C-reactive protein levels, and Analysis of Varian...
Source: Cerebellum - November 7, 2023 Category: Neuroscience Authors: Mohamad Motaz Al Samman Monica A Garcia Maitane Garc ía James R Houston Dorothy Loth Richard Labuda Sarel Vorster Petra M Klinge Francis Loth Douglas L Delahanty Philip A Allen Source Type: research
Relationship of Morphometrics and Symptom Severity in Female Type I Chiari Malformation Patients with Biological Resilience
Cerebellum. 2023 Nov 7. doi: 10.1007/s12311-023-01627-0. Online ahead of print.ABSTRACTIn the present study we report the relationship among MRI-based skull and cervical spine morphometric measures as well as symptom severity (disability-as measured by Oswestry Head and Neck Pain Scale and social isolation-as measured by the UCLA Loneliness scale) on biomarkers of allostatic load using estrogen, interleukin-6, C-reactive protein, and cortisol in a sample of 46 CMI patients. Correlational analyses showed that McRae line length was negatively associated with interleukin-6 and C-reactive protein levels, and Analysis of Varian...
Source: Cerebellum - November 7, 2023 Category: Neuroscience Authors: Mohamad Motaz Al Samman Monica A Garcia Maitane Garc ía James R Houston Dorothy Loth Richard Labuda Sarel Vorster Petra M Klinge Francis Loth Douglas L Delahanty Philip A Allen Source Type: research
The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes
Cerebellum. 2023 Oct 31. doi: 10.1007/s12311-023-01620-7. Online ahead of print.ABSTRACTCerebellar syndromes are clinically and etiologically heterogeneous and can be classified as hereditary, neurodegenerative non-hereditary, or acquired. Few data are available on the frequency of each form in the clinical setting. Growing interest is emerging regarding the genetic forms caused by triplet repeat expansions. Alleles with repeat expansion lower than the pathological threshold, termed intermediate alleles (IAs), have been found to be associated with disease manifestation. In order to assess the relevance of IAs as a cause of...
Source: Cerebellum - October 31, 2023 Category: Neuroscience Authors: Elena Capacci Silvia Bagnoli Giulia Giacomucci Costanza Maria Rapillo Alessandra Govoni Valentina Bessi Cristina Polito Irene Giotti Alice Brogi Elisabetta Pelo Sandro Sorbi Benedetta Nacmias Camilla Ferrari Source Type: research
The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes
Cerebellum. 2023 Oct 31. doi: 10.1007/s12311-023-01620-7. Online ahead of print.ABSTRACTCerebellar syndromes are clinically and etiologically heterogeneous and can be classified as hereditary, neurodegenerative non-hereditary, or acquired. Few data are available on the frequency of each form in the clinical setting. Growing interest is emerging regarding the genetic forms caused by triplet repeat expansions. Alleles with repeat expansion lower than the pathological threshold, termed intermediate alleles (IAs), have been found to be associated with disease manifestation. In order to assess the relevance of IAs as a cause of...
Source: Cerebellum - October 31, 2023 Category: Neuroscience Authors: Elena Capacci Silvia Bagnoli Giulia Giacomucci Costanza Maria Rapillo Alessandra Govoni Valentina Bessi Cristina Polito Irene Giotti Alice Brogi Elisabetta Pelo Sandro Sorbi Benedetta Nacmias Camilla Ferrari Source Type: research
The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes
Cerebellum. 2023 Oct 31. doi: 10.1007/s12311-023-01620-7. Online ahead of print.ABSTRACTCerebellar syndromes are clinically and etiologically heterogeneous and can be classified as hereditary, neurodegenerative non-hereditary, or acquired. Few data are available on the frequency of each form in the clinical setting. Growing interest is emerging regarding the genetic forms caused by triplet repeat expansions. Alleles with repeat expansion lower than the pathological threshold, termed intermediate alleles (IAs), have been found to be associated with disease manifestation. In order to assess the relevance of IAs as a cause of...
Source: Cerebellum - October 31, 2023 Category: Neuroscience Authors: Elena Capacci Silvia Bagnoli Giulia Giacomucci Costanza Maria Rapillo Alessandra Govoni Valentina Bessi Cristina Polito Irene Giotti Alice Brogi Elisabetta Pelo Sandro Sorbi Benedetta Nacmias Camilla Ferrari Source Type: research
The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes
Cerebellum. 2023 Oct 31. doi: 10.1007/s12311-023-01620-7. Online ahead of print.ABSTRACTCerebellar syndromes are clinically and etiologically heterogeneous and can be classified as hereditary, neurodegenerative non-hereditary, or acquired. Few data are available on the frequency of each form in the clinical setting. Growing interest is emerging regarding the genetic forms caused by triplet repeat expansions. Alleles with repeat expansion lower than the pathological threshold, termed intermediate alleles (IAs), have been found to be associated with disease manifestation. In order to assess the relevance of IAs as a cause of...
Source: Cerebellum - October 31, 2023 Category: Neuroscience Authors: Elena Capacci Silvia Bagnoli Giulia Giacomucci Costanza Maria Rapillo Alessandra Govoni Valentina Bessi Cristina Polito Irene Giotti Alice Brogi Elisabetta Pelo Sandro Sorbi Benedetta Nacmias Camilla Ferrari Source Type: research
