A Case of Coexistent Spinocerebellar Ataxia Type 2 and Primary Progressive Multiple Sclerosis-Coincidental or Associated?
We report a rare case of a 41-year-old woman with coexistent genetically verified SCA2 and primary progressive multiple sclerosis (MS). Considering our case and a few others reported in the literature, as well as a possible genetic association between ATXN2 and MS susceptibility, we suggest that the coexistence of SCA and MS may not be coincidental, especially in patients with a progressive MS course.PMID:37715888 | DOI:10.1007/s12311-023-01605-6 (Source: Cerebellum)
Source: Cerebellum - September 16, 2023 Category: Neuroscience Authors: Elif Everest Bade Gulec Ugur Uygunoglu Source Type: research
A Case of Coexistent Spinocerebellar Ataxia Type 2 and Primary Progressive Multiple Sclerosis-Coincidental or Associated?
We report a rare case of a 41-year-old woman with coexistent genetically verified SCA2 and primary progressive multiple sclerosis (MS). Considering our case and a few others reported in the literature, as well as a possible genetic association between ATXN2 and MS susceptibility, we suggest that the coexistence of SCA and MS may not be coincidental, especially in patients with a progressive MS course.PMID:37715888 | DOI:10.1007/s12311-023-01605-6 (Source: Cerebellum)
Source: Cerebellum - September 16, 2023 Category: Neuroscience Authors: Elif Everest Bade Gulec Ugur Uygunoglu Source Type: research
Health-Related Quality of Life in Patients with Spinocerebellar Ataxia: a Validation Study of the EQ-5D-3L
The objective of this study is to assess the acceptability, validity, reliability, and responsiveness of the EQ-5D-3L. For n = 842 predominantly European SCA patients of two longitudinal cohort studies, the EQ-5D-3L, PHQ-9 (Patient Health Questionnaire), and ataxia-specific clinical assessments (SARA: Scale for Assessment and Rating of Ataxia; ADL: activities of daily living as part of Friedreich's Ataxia Rating Scale; INAS: Inventory of Non-Ataxia Signs) were assessed at baseline and multiple annual follow-ups. The EQ-5D-3L was evaluated regarding acceptability, distribution properties, convergent and known-groups validit...
Source: Cerebellum - September 15, 2023 Category: Neuroscience Authors: Maresa Buchholz Niklas Weber Anika R ädke Jennifer Faber Tanja Schmitz-H übsch Heike Jacobi Feng Xie Thomas Klockgether Bernhard Michalowsky EUROSCA study group ESMI study group Source Type: research
Health-Related Quality of Life in Patients with Spinocerebellar Ataxia: a Validation Study of the EQ-5D-3L
The objective of this study is to assess the acceptability, validity, reliability, and responsiveness of the EQ-5D-3L. For n = 842 predominantly European SCA patients of two longitudinal cohort studies, the EQ-5D-3L, PHQ-9 (Patient Health Questionnaire), and ataxia-specific clinical assessments (SARA: Scale for Assessment and Rating of Ataxia; ADL: activities of daily living as part of Friedreich's Ataxia Rating Scale; INAS: Inventory of Non-Ataxia Signs) were assessed at baseline and multiple annual follow-ups. The EQ-5D-3L was evaluated regarding acceptability, distribution properties, convergent and known-groups validit...
Source: Cerebellum - September 15, 2023 Category: Neuroscience Authors: Maresa Buchholz Niklas Weber Anika R ädke Jennifer Faber Tanja Schmitz-H übsch Heike Jacobi Feng Xie Thomas Klockgether Bernhard Michalowsky EUROSCA study group ESMI study group Source Type: research
Epidemiology of Spinocerebellar Ataxias in Europe
Cerebellum. 2023 Sep 12. doi: 10.1007/s12311-023-01600-x. Online ahead of print.ABSTRACTSpinocerebellar ataxias (SCAs) are a heterogenous group of rare neurodegenerative conditions sharing an autosomal dominant pattern of inheritance. More than 40 SCAs have been genetically determined. However, a systematic review of SCA epidemiology in Europe is still missing. Here we performed a narrative review of the literature on the epidemiology of the most common SCAs in Europe. PubMed, Embase, and MEDLINE were searched from inception until 1 April 2023. All English peer-reviewed articles published were considered and then filtered ...
Source: Cerebellum - September 12, 2023 Category: Neuroscience Authors: Filippo De Mattei Fabio Ferrandes Salvatore Gallone Antonio Canosa Andrea Calvo Adriano Chi ò Rosario Vasta Source Type: research
Epidemiology of Spinocerebellar Ataxias in Europe
Cerebellum. 2023 Sep 12. doi: 10.1007/s12311-023-01600-x. Online ahead of print.ABSTRACTSpinocerebellar ataxias (SCAs) are a heterogenous group of rare neurodegenerative conditions sharing an autosomal dominant pattern of inheritance. More than 40 SCAs have been genetically determined. However, a systematic review of SCA epidemiology in Europe is still missing. Here we performed a narrative review of the literature on the epidemiology of the most common SCAs in Europe. PubMed, Embase, and MEDLINE were searched from inception until 1 April 2023. All English peer-reviewed articles published were considered and then filtered ...
Source: Cerebellum - September 12, 2023 Category: Neuroscience Authors: Filippo De Mattei Fabio Ferrandes Salvatore Gallone Antonio Canosa Andrea Calvo Adriano Chi ò Rosario Vasta Source Type: research
Epidemiology of Spinocerebellar Ataxias in Europe
Cerebellum. 2023 Sep 12. doi: 10.1007/s12311-023-01600-x. Online ahead of print.ABSTRACTSpinocerebellar ataxias (SCAs) are a heterogenous group of rare neurodegenerative conditions sharing an autosomal dominant pattern of inheritance. More than 40 SCAs have been genetically determined. However, a systematic review of SCA epidemiology in Europe is still missing. Here we performed a narrative review of the literature on the epidemiology of the most common SCAs in Europe. PubMed, Embase, and MEDLINE were searched from inception until 1 April 2023. All English peer-reviewed articles published were considered and then filtered ...
Source: Cerebellum - September 12, 2023 Category: Neuroscience Authors: Filippo De Mattei Fabio Ferrandes Salvatore Gallone Antonio Canosa Andrea Calvo Adriano Chi ò Rosario Vasta Source Type: research
Cerebellar Nuclei Receiving Orofacial Proprioceptive Signals through the Mossy Fiber Pathway from the Supratrigeminal Nucleus in Rats
Cerebellum. 2023 Sep 8. doi: 10.1007/s12311-023-01602-9. Online ahead of print.ABSTRACTProprioception from muscle spindles is necessary for motor function executed by the cerebellum. In particular, cerebellar nuclear neurons that receive proprioceptive signals and send projections to the lower brainstem or spinal cord play key roles in motor control. However, little is known about which cerebellar nuclear regions receive orofacial proprioception. Here, we investigated projections to the cerebellar nuclei from the supratrigeminal nucleus (Su5), which conveys the orofacial proprioception arising from jaw-closing muscle spind...
Source: Cerebellum - September 8, 2023 Category: Neuroscience Authors: Yumi Tsutsumi Yayoi Morita Fumihiko Sato Takahiro Furuta Katsuro Uchino Jaerin Sohn Tahsinul Haque Yong Chul Bae Hitoshi Niwa Yoshihisa Tachibana Atsushi Yoshida Source Type: research
Cerebellar Nuclei Receiving Orofacial Proprioceptive Signals through the Mossy Fiber Pathway from the Supratrigeminal Nucleus in Rats
Cerebellum. 2023 Sep 8. doi: 10.1007/s12311-023-01602-9. Online ahead of print.ABSTRACTProprioception from muscle spindles is necessary for motor function executed by the cerebellum. In particular, cerebellar nuclear neurons that receive proprioceptive signals and send projections to the lower brainstem or spinal cord play key roles in motor control. However, little is known about which cerebellar nuclear regions receive orofacial proprioception. Here, we investigated projections to the cerebellar nuclei from the supratrigeminal nucleus (Su5), which conveys the orofacial proprioception arising from jaw-closing muscle spind...
Source: Cerebellum - September 8, 2023 Category: Neuroscience Authors: Yumi Tsutsumi Yayoi Morita Fumihiko Sato Takahiro Furuta Katsuro Uchino Jaerin Sohn Tahsinul Haque Yong Chul Bae Hitoshi Niwa Yoshihisa Tachibana Atsushi Yoshida Source Type: research
Cerebellar Nuclei Receiving Orofacial Proprioceptive Signals through the Mossy Fiber Pathway from the Supratrigeminal Nucleus in Rats
Cerebellum. 2023 Sep 8. doi: 10.1007/s12311-023-01602-9. Online ahead of print.ABSTRACTProprioception from muscle spindles is necessary for motor function executed by the cerebellum. In particular, cerebellar nuclear neurons that receive proprioceptive signals and send projections to the lower brainstem or spinal cord play key roles in motor control. However, little is known about which cerebellar nuclear regions receive orofacial proprioception. Here, we investigated projections to the cerebellar nuclei from the supratrigeminal nucleus (Su5), which conveys the orofacial proprioception arising from jaw-closing muscle spind...
Source: Cerebellum - September 8, 2023 Category: Neuroscience Authors: Yumi Tsutsumi Yayoi Morita Fumihiko Sato Takahiro Furuta Katsuro Uchino Jaerin Sohn Tahsinul Haque Yong Chul Bae Hitoshi Niwa Yoshihisa Tachibana Atsushi Yoshida Source Type: research
Correction: Three-Dimensional Digital Reconstruction of the Cerebellar Cortex: Lobule Thickness, Surface Area Measurements, and Layer Architecture
Cerebellum. 2023 Sep 5. doi: 10.1007/s12311-023-01603-8. Online ahead of print.NO ABSTRACTPMID:37668837 | DOI:10.1007/s12311-023-01603-8 (Source: Cerebellum)
Source: Cerebellum - September 5, 2023 Category: Neuroscience Authors: Junxiao Zheng Qinzhu Yang Nikos Makris Kaibin Huang Jianwen Liang Chenfei Ye Xiaxia Yu Mu Tian Ting Ma Tian Mou Wenlong Guo Ron Kikinis Yi Gao Source Type: research
Correction: Three-Dimensional Digital Reconstruction of the Cerebellar Cortex: Lobule Thickness, Surface Area Measurements, and Layer Architecture
Cerebellum. 2023 Sep 5. doi: 10.1007/s12311-023-01603-8. Online ahead of print.NO ABSTRACTPMID:37668837 | DOI:10.1007/s12311-023-01603-8 (Source: Cerebellum)
Source: Cerebellum - September 5, 2023 Category: Neuroscience Authors: Junxiao Zheng Qinzhu Yang Nikos Makris Kaibin Huang Jianwen Liang Chenfei Ye Xiaxia Yu Mu Tian Ting Ma Tian Mou Wenlong Guo Ron Kikinis Yi Gao Source Type: research
Correction: Three-Dimensional Digital Reconstruction of the Cerebellar Cortex: Lobule Thickness, Surface Area Measurements, and Layer Architecture
Cerebellum. 2023 Sep 5. doi: 10.1007/s12311-023-01603-8. Online ahead of print.NO ABSTRACTPMID:37668837 | DOI:10.1007/s12311-023-01603-8 (Source: Cerebellum)
Source: Cerebellum - September 5, 2023 Category: Neuroscience Authors: Junxiao Zheng Qinzhu Yang Nikos Makris Kaibin Huang Jianwen Liang Chenfei Ye Xiaxia Yu Mu Tian Ting Ma Tian Mou Wenlong Guo Ron Kikinis Yi Gao Source Type: research
Correction: Three-Dimensional Digital Reconstruction of the Cerebellar Cortex: Lobule Thickness, Surface Area Measurements, and Layer Architecture
Cerebellum. 2023 Sep 5. doi: 10.1007/s12311-023-01603-8. Online ahead of print.NO ABSTRACTPMID:37668837 | DOI:10.1007/s12311-023-01603-8 (Source: Cerebellum)
Source: Cerebellum - September 5, 2023 Category: Neuroscience Authors: Junxiao Zheng Qinzhu Yang Nikos Makris Kaibin Huang Jianwen Liang Chenfei Ye Xiaxia Yu Mu Tian Ting Ma Tian Mou Wenlong Guo Ron Kikinis Yi Gao Source Type: research
The Effect of taVNS on the Cerebello-Thalamo-Cortical Pathway: a TMS Study
Cerebellum. 2023 Aug 28. doi: 10.1007/s12311-023-01595-5. Online ahead of print.ABSTRACTfMRI studies show activation of cerebellum during transcutaneous auricular vagal nerve stimulation (taVNS); however, there is no evidence whether taVNS induced activation of the cerebellum translates to the cerebellar closed loops involved in motor functions. We assessed the propensity of taVNS at 25 Hz (taVNS25) and 100 Hz (taVNS100) to modulate cerebello-thalamo-cortical pathways using transcranial magnetic stimulation. In our double blind within-subjects study thirty-two participants completed one visit during which cerebellar brain ...
Source: Cerebellum - August 28, 2023 Category: Neuroscience Authors: Vesna M van Midden Zvezdan Pirto šek Maja Kojovi ć Source Type: research
