journal
https://read.qxmd.com/read/32922823/frequency-of-spinocerebellar-ataxia-type-1-2-3-6-and-7-and-clinical-profile-of-spinocerebellar-ataxia-type-3-in-malaysia
#21
JOURNAL ARTICLE
Norlinah Mohamed Ibrahim, Yue Hui Lau, Noorasyikin Ariffin, Siti Hajar Md Desa, Elena Azizan, Long Kha Chin, Shahrul Azmin Md Rani, Yusnita Yakob, Santhi Datuk Puvanarajah, Bart van de Warrenburg
Spinocerebellar ataxias (SCA) are highly heterogenous group of neurodegenerative diseases causing progressive cerebellar dysfunction. We report the first description of relative frequencies of the common SCA mutations and of phenotypic characteristics of SCA3 patients among Malaysians. Pooled data from adult Malaysian patients who had undergone genetic testing for SCA 1,2,3,6 and 7 at UKM Medical Centre and Institute for Medical Research from 2017 to 2020 were analysed. Fifteen patients with SCA 3 had detailed clinical phenotype evaluation using Inventory for Non -Ataxia Signs (INAS) and Ataxia Severity evaluation using the Scale for Assessment and Rating of Ataxia (SARA)...
2020: Cerebellum & Ataxias
https://read.qxmd.com/read/32699638/cerebellum-and-micturition-what-do-we-know-a-systematic-review
#22
REVIEW
Laure Bastide, Anne-Geneviève Herbaut
Aims: Micturition depends on a complex voluntary and involuntarily neuronal network located at various levels of the nervous system. The mechanism is highly dependent on the hierarchical organization of central nervous system pathways. If the role of the cortex and brainstem centres is well established, the role of other subcortical areas structures, such as the cerebellum is poorly understood. We are interested in discussing the current knowledge on the role of cerebellum in micturition...
2020: Cerebellum & Ataxias
https://read.qxmd.com/read/32695429/sprinting-into-the-field-of-neuro-ophthalmology-from-the-streets-of-brooklyn
#23
REVIEW
Steven L Galetta
No abstract text is available yet for this article.
2020: Cerebellum & Ataxias
https://read.qxmd.com/read/32607248/a-pilot-study-of-essential-tremor-cerebellar-gaba-glx-ratio-is-correlated-with-tremor-severity
#24
JOURNAL ARTICLE
Sofie Tapper, Nathanael Göransson, Peter Lundberg, Anders Tisell, Peter Zsigmond
OBJECTIVE: Essential tremor is a common movement disorder with an unclear origin. Emerging evidence suggests the role of the cerebellum and the thalamus in tremor pathophysiology. We examined the two main neurotransmitters acting inhibitory (GABA+) and excitatory (Glx) respectively, in the thalamus and cerebellum, in patients diagnosed with severe essential tremor. Furthermore, we also investigated the relationship between determined neurotransmitter concentrations and tremor severity in the essential tremor patients...
2020: Cerebellum & Ataxias
https://read.qxmd.com/read/32587707/intrafamilial-phenotypic-variation-in-spinocerebellar-ataxia-type-23
#25
Shunichi Satoh, Yasufumi Kondo, Shinji Ohara, Tomomi Yamaguchi, Katsuya Nakamura, Kunihiro Yoshida
Background: Spinocerebellar ataxia type 23 (SCA23) is an autosomal dominant cerebellar ataxia caused by pathogenic variants in the prodynorphin gene ( PDYN ). The frequency of PDYN variants is reportedly very low (~ 0.1%) in several ataxia cohorts screened to date. Case presentations: We found five cases of SCA23 in two families (mean age at onset: 37.8 ± 5.5 years; mean age at examination: 64.2 ± 12.3 years) with a novel PDYN variant (c.644G > A:p...
2020: Cerebellum & Ataxias
https://read.qxmd.com/read/32514364/vestibular-impact-of-friedreich-ataxia-in-early-onset-patients
#26
JOURNAL ARTICLE
A Maudoux, N Teissier, M Francois, Th Van Den Abbeele, C Alberti, I Husson, S R Wiener-Vacher
Background: Friedreich ataxia (FRDA) is the most frequent form of inherited ataxias. Vestibular and auditory assessments are not commonly part of the check up for these patients despite hearing and balance complaints. Screening of vestibular and auditory function was performed in a large group of young patients with genetically confirmed FRDA. Methods: Our study included 43 patients (7-24 years of age). A complete vestibular assessment was performed including the canals function evaluation at 3 head velocities (bithermal caloric test, earth vertical axis rotation (EVAR) and head impulse test (HIT)) and otolith function evaluation (cervical vestibular evoked myogenic potentials)...
2020: Cerebellum & Ataxias
https://read.qxmd.com/read/32082592/oculopalatal-tremor-following-sequential-medullary-infarcts-that-did-not-cause-hypertrophic-olivary-degeneration
#27
JOURNAL ARTICLE
Jorge C Kattah, Rodger J Elble, Jeffrey De Santo, Aasef G Shaikh
BACKGROUND: The syndrome of oculopalatal tremor is a known consequence of lesions in the dentate-olivary pathway. Hypertrophic degeneration of the inferior olive is a recognized pathological correlate of these lesions and hypothesized to cause tremorogenic olivary hypersynchrony. However, oculopalatal tremor also occurs in Alexander disease, which produces severe inferior olive degeneration without intervening hypertrophy. METHODS: Serial clinical, imaging, video-oculography and kinematic tremor recording of a patient with oculopalatal and limb tremor...
2020: Cerebellum & Ataxias
https://read.qxmd.com/read/31993210/abnormal-cerebellar-volume-in-somatic-vs-non-somatic-delusional-disorders
#28
JOURNAL ARTICLE
Joshua Krämer, Markus Huber, Christina Mundinger, Mike M Schmitgen, Roger Pycha, Erwin Kirchler, Christian Macina, Martin Karner, Dusan Hirjak, Katharina M Kubera, Malte S Depping, Dmitry Romanov, Roland W Freudenmann, Robert Christian Wolf
BACKGROUND: There is abundant evidence for cerebellar involvement in schizophrenia, where the cerebellum has been suggested to contribute to cognitive, affective and motor dysfunction. More recently, specific cerebellar regions have also been associated with psychotic symptoms, particularly with auditory verbal hallucinations. In contrast, little is known about cerebellar contributions to delusions, and even less is known about whether cerebellar involvement differs by delusional content...
2020: Cerebellum & Ataxias
https://read.qxmd.com/read/31934342/hypomagnesaemia-induced-recurrent-cerebellar-ataxia-an-interesting-case-with-successful-management
#29
Singh Saraj Kumar, Goel Khushbu, Mukherji Joy Dev
Purpose: Severe Hypomagnesaemia is a rare biochemical findings utilized for identifying the etiology of cerebellar ataxia. It requires a high degree of suspicion to diagnose. MRI findings are often nonspecific. Methods: The author presents a case of 38 yrs. old male patient presented with vomiting, gait imabalance and nystagmus. Biochemical investigations lead to severe hypomagnesaemia. Also MRI findings were matched suggesting of hyperintesity in left cerebellar hemisphere...
2020: Cerebellum & Ataxias
https://read.qxmd.com/read/31890231/one-year-outcome-of-coenzyme-q10-supplementation-in-adck3-ataxia-arca2
#30
JOURNAL ARTICLE
Tommaso Schirinzi, Martina Favetta, Alberto Romano, Andrea Sancesario, Susanna Summa, Silvia Minosse, Ginevra Zanni, Enrico Castelli, Enrico Bertini, Maurizio Petrarca, Gessica Vasco
BACKGROUND: The recessive ataxia ARCA2 is a rare disorder characterized by Coenzyme Q10 (CoQ10) deficiency due to biallelic mutations in ADCK3 gene. Despite the pathophysiological role, available data are not univocal on clinical efficacy of CoQ10 supplementation in ARCA2. Here we described the long-term motor outcome of 4 untreated ARCA2 patients prospectively followed-up for one year after starting CoQ10 oral supplementation (15 mg/kg/day). METHODS: Clinical rating scales (SARA; 9 holes peg test; 6 min walking test; Timed 25-Foot Walk) and videoelectronic gait analysis were performed at baseline and every 6 months (T0, T1, T2) to evaluate the motor performances...
2019: Cerebellum & Ataxias
https://read.qxmd.com/read/31632679/spinocerebellar-ataxia-type-29-in-a-family-of-m%C3%A4-ori-descent
#31
Kathie J Ngo, Gemma Poke, Katherine Neas, Brent L Fogel
BACKGROUND: Mutations in the Inositol 1,4,5-Trisphosphate Receptor Type 1 ( ITPR1) gene cause spinocerebellar ataxia type 29 (SCA29), a rare congenital-onset autosomal dominant non-progressive cerebellar ataxia. The Māori, indigenous to New Zealand, are an understudied population for genetic ataxias. CASE PRESENTATION: We investigated the genetic origins of spinocerebellar ataxia in a family of Māori descent consisting of two affected sisters and their unaffected parents...
2019: Cerebellum & Ataxias
https://read.qxmd.com/read/31548897/comparison-of-cognitive-profiles-in-spinocerebellar-ataxia-subtypes-a-case-series
#32
Corey Bolton, Maureen Lacy
Background: The spinocerebellar ataxias (SCA) are a heterogeneous group of progressive neurodegenerative disorders that are associated with diffuse cerebellar atrophy. While the physical symptoms of this condition have long been studied, more attention has been given to cognitive changes in recent years. We describe a case series of four adults with various genetically-confirmed subtypes of SCA. Case presentation: Patients with SCA types 2, 3, and 6 presented with impaired cognitive profiles consistent with the existing literature while the reported patient with SCA-14 showed notable impairment inconsistent with the only published case controlled study...
2019: Cerebellum & Ataxias
https://read.qxmd.com/read/31485334/nonmotor-symptoms-in-spinocerebellar-ataxias-scas
#33
REVIEW
Adriana Moro, Mariana Moscovich, Marina Farah, Carlos Henrique F Camargo, Hélio A G Teive, Renato P Munhoz
Nonmotor symptoms (NMS) have been increasingly recognized in a number of neurodegenerative diseases with a burden of disability that parallels or even surpasses that induced by motor symptoms. As NMS have often been poorly recognized and inadequately treated, much of the most recent developments in the investigation of these disorders has focused on the recognition and quantification of NMS, which will form the basis of improved clinical care for these complex cases. NMS have been only sparsely investigated in a limited number of spinocerebellar ataxias (SCAs), particularly SCA3, and have not been systematically reviewed for other forms of SCAs...
2019: Cerebellum & Ataxias
https://read.qxmd.com/read/31428435/modafinil-in-the-rehabilitation-of-a-patient-with-post-surgical-posterior-fossa-syndrome-a-lesson-to-be-learned
#34
REVIEW
Emanuela Molinari, Maria Oto, Ashita Waterston, Natasha Fullerton
Disorders of the cerebellum may present with motor, cognitive, behavioral and affective symptoms. There is a growing interest in developing neuroanatomical models of symptoms generation that involve the cerebellum and the cerebello-cortical connections. We describe an exciting first case report of successful use of Modafinil in an adult patient with post-operative posterior fossa syndrome. Following resection of a melanoma metastasis in the cerebellum the patient developed striking affective and behavioral symptoms in the form of withdrawn flat mood and disengagement...
2019: Cerebellum & Ataxias
https://read.qxmd.com/read/31410291/fever-related-ataxia-a-case-report-of-capos-syndrome
#35
Ida Stenshorne, Magnhild Rasmussen, Panagiotis Salvanos, Chantal M E Tallaksen, Laurence A Bindoff, Jeanette Koht
BACKGROUND: CAPOS ( C erebellar ataxia, A reflexia, P es cavus, O ptic atrophy and S ensorineural hearing loss) syndrome is caused by the heterozygous mutation, c.2452G > A, in the ATP1A3 gene. Other mutations in this gene can cause a spectrum of overlapping phenotypes including alternating hemiplegia of childhood, rapid onset dystonia parkinsonism, early infantile epileptic encephalopathy and fever induced paroxysmal weakness and encephalopathy. The phenotype is still mistaken for mitochondrial/metabolic disorders and follow up studies are scare...
2019: Cerebellum & Ataxias
https://read.qxmd.com/read/31372235/erratum-publisher-correction-to-cerebellum-ataxias-volume-6
#36
(no author information available yet)
[This corrects the article DOI: 10.1186/s40673-019-0101-x.].
2019: Cerebellum & Ataxias
https://read.qxmd.com/read/31346473/the-cerebellar-phenotype-of-charcot-marie-tooth-neuropathy-type-4c
#37
JOURNAL ARTICLE
Humberto Skott, Cristina Muntean-Firanescu, Kristin Samuelsson, Luca Verrecchia, Per Svenningsson, Helena Malmgren, Carmen Cananau, Alberto J Espay, Rayomand Press, Göran Solders, Martin Paucar
Background: Friedreich ataxia (FRDA) is the most common familial ataxia syndrome in Central and Southern Europe but rare in Scandinavia. Biallelic mutations in SH3 domain and tetratricopeptide repeats 2 ( SH3TC2) cause Charcot-Marie-Tooth disease type 4C (CMT4C), one of the most common autosomal recessive polyneuropathies associated with early onset, slow disease progression and scoliosis. Beyond nystagmus reported in some patients, neither ataxia nor cerebellar atrophy has been documented as part of the CMT4C phenotype...
2019: Cerebellum & Ataxias
https://read.qxmd.com/read/31333854/paraneoplastic-cerebellar-degeneration-as-initial-presentation-of-renal-cell-carcinoma
#38
Sara M Souza, Barbara O Santos, Isadora C A Sodré, Ana Luiza P Oliveira, Diogo Terrana, Mariana Spitz
Background: Paraneoplastic cerebellar degeneration is usually associated with gynecological and breast cancer, lung cancer, and Hodgkin's lymphoma. Renal cell carcinoma has rarely been described as an underlying malignancy in these cases. Case presentation: We report the case of a 75 year-old woman who develop cerebellar ataxia following a respiratory viral infection. During investigation, around 1 year afterward, she noticed constitutional symptoms suggestive of malignancy...
2019: Cerebellum & Ataxias
https://read.qxmd.com/read/31321064/is-1-h-mr-spectroscopy-useful-as-a-diagnostic-aid-in-msa-c
#39
JOURNAL ARTICLE
Viren H Kadodwala, Marios Hadjivassiliou, Stuart Currie, Nicholas Skipper, Nigel Hoggard
Background: Multiple system atrophy (MSA) is a sporadic adult-onset neurodegenerative disease with a cerebellar subtype where ataxic symptoms predominate (MSA-C) associated with autonomic dysfunction and a grave prognosis. The purpose of this analysis was to identify if cerebellar volumetry and MR spectroscopy obtained as part of routine clinical work up of patients with sporadic ataxia differentiates patients with multiple system atrophy- cerebellar type (MSA-C) from those with sporadic adult-onset ataxia of unknown etiology (SAOA) who's condition follows a more benign course...
2019: Cerebellum & Ataxias
https://read.qxmd.com/read/31293790/the-evolution-of-theory-of-mind-tom-within-the-evolution-of-cerebellar-sequence-detection-in-stone-tool-making-and-language-implications-for-studies-of-higher-level-cognitive-functions-in-degenerative-cerebellar-atrophy
#40
JOURNAL ARTICLE
Larry Vandervert
Introduction: Within the context of Clausi, Olivito, Lupo, Siciliano, Bozzali and Leggio's (Cell Neurosci 12:510, 2019) insightful study of how prediction of theory of mind (ToM) is compromised in degenerative cerebellar atrophy, this article describes how prediction can also be understood as the cerebro-cerebellar system's capacity to rapidly shift attention to manipulate cause-and-effect relationships embedded in language. Method: The evolution of the capacity of ToM is described within the evolution of stone-tool making, language, and the origin of the phonological loop in verbal working memory...
2019: Cerebellum & Ataxias
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