Melo, Ana Rosa Vieira Raposo, Mafalda Ventura, Marta Martins, Sandra Pavão, Sara Alonso, Isabel Bettencourt, Conceição Lima, Manuela
Published in
Cerebellum (London, England)
Untranslated regions are involved in the regulation of transcriptional and post-transcriptional processes. Characterization of these regions remains poorly explored for ATXN3, the causative gene of Machado-Joseph disease (MJD). Although a few genetic modifiers have been identified for MJD age at onset (AO), they only explain a small fraction of the...
Schniepp, Roman Huppert, Anna Decker, Julian Schenkel, Fabian Dieterich, Marianne Brandt, Thomas Wuehr, Max
Published in
Cerebellum (London, England)
This cohort study aims to evaluate the predictive validity of multimodal clinical assessment and quantitative measures of in- and off-laboratory mobility for fall-risk estimation in patients with cerebellar ataxia (CA).Occurrence, severity, and consequences of falling were prospectively assessed for 6 months in 93 patients with hereditary (N = 36) ...
Tian, Jing Otero-Millan, Jorge Zee, David S Kheradmand, Amir
Published in
Cerebellum (London, England)
We report a patient with spontaneous upbeat nystagmus (UBN) due to an ischemic lesion involving the paramedian tract (PMT) in the medulla. Eye movement recordings, using an infrared video-oculography (VOG) system, showed that the slow phase of the nystagmus was initially velocity-decreasing but gradually became velocity-increasing. Simulation of th...
Tichanek, Filip
Published in
Cerebellum (London, England)
Many patients with spinocerebellar ataxia (SCA) suffer from diverse neuropsychiatric issues, including memory impairments, apathy, depression, or anxiety. These neuropsychiatric aspects contribute per se to the reduced quality of life and worse prognosis. However, the extent to which SCA-related neuropathology directly contributes to these issues r...
Saberi-Karimian, Maryam Beyraghi-Tousi, Mehran Mirzadeh, Mansoureh Gumpricht, Eric Sahebkar, Amirhosein
Published in
Cerebellum (London, England)
Ataxia-telangiectasia (AT) is a rare autosomal recessive disorder with no available curative treatment. Although the positive effects of N-acetyl-DL-leucine on cerebellar ataxia have been reported previously, there is little evidence of N-acetyl-DL-leucine's effects in patients with AT. This study assessed the effect of 16 weeks N-acetyl-DL-leucine...
Zhang, Xiao Li, Jie Zhang, Yanyan Gao, Meina Peng, Tao Tian, Tian
Published in
Cerebellum (London, England)
Mutations in the alanyl-transfer RNA synthase 2 (AARS2) represent a heterogenous group of autosomal recessive leukodystrophy characterized by cognitive decline, ataxia, spasticity, and Parkinsonism. AARS2-related leukodystrophy (AARS2-L) is extremely rare. To date, only 45 genetically confirmed cases, explaining the frequent diagnostic delay. Here,...
Anteraper, Sheeba Arnold Guell, Xavier Lee, Yoon Ji Raya, Jovicarole Demchenko, Ilya Churchill, Nathan W Frey, Benicio N Hassel, Stefanie Lam, Raymond W MacQueen, Glenda M
...
Published in
Cerebellum (London, England)
Neuroimaging studies have demonstrated aberrant structure and function of the "cognitive-affective cerebellum" in major depressive disorder (MDD), although the specific role of the cerebello-cerebral circuitry in this population remains largely uninvestigated. The objective of this study was to delineate the role of cerebellar functional networks i...
Wessel, Maximilian J Draaisma, Laurijn R Hummel, Friedhelm C
Published in
Cerebellum (London, England)
Oscillatory activity in the cerebellum and linked networks is an important aspect of neuronal processing and functional implementation of behavior. So far, it was challenging to quantify and study cerebellar oscillatory signatures in human neuroscience due to the constraints of non-invasive cerebellar electrophysiological recording and intervention...
Park, Don Gueu Kim, Min Seung Yoon, Jung Han
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Cerebellum (London, England)
Lee, Sun-Uk Kim, Ji-Soo Yoo, Dallah Kim, Aryun Kim, Hyo-Jung Choi, Jeong-Yoon Park, Ji-Yun Jeong, Seong-Hae Kim, Jong-Min Park, Kun-Woo
...
Published in
Cerebellum (London, England)
Differentiation of spinocerebellar ataxia type 17 (SCA17) from Huntington's disease (HD) is often challenging since they share the clinical features of chorea, parkinsonism, and dystonia. The ocular motor findings remain to be elucidated in SCA17, and may help differentiating SCA17 from HD. We retrospectively compared the ocular motor findings of 1...
