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Friedreich ataxia (FA) represents the most frequent type of inherited ataxia. Most patients carry homozygous GAA expansions in the first intron of the frataxin gene on chromosome 9. Due to epigenetic alteratio...
Citation: Cerebellum & Ataxias 2017 4:4
The classification of autosomal recessive ataxias represents a significant challenge because of high genetic heterogeneity and complex phenotypes. We conducted a comprehensive systematic review of the literatu...
Citation: Cerebellum & Ataxias 2017 4:3
Cerebellar mutism syndrome (CMS) or posterior fossa syndrome (PFS) consists of a constellation of neuropsychiatric, neuropsychological and neurogenic speech and language deficits. It is most commonly observed ...
Citation: Cerebellum & Ataxias 2017 4:2
Cerebellar ataxia with sensory ganglionopathy is a rare neurological combination that can occur in some hereditary ataxias including mitochondrial diseases and in gluten sensitivity. Individually each conditio...
Citation: Cerebellum & Ataxias 2017 4:1
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder that primarily affects the cerebellum and brainstem. The genetic mutation is an expansion of CAG trinucleotide repeats w...
Citation: Cerebellum & Ataxias 2016 3:20
The recent development of non-invasive brain stimulation techniques such as transcranial magnetic stimulation (TMS) has allowed the non-invasive assessment of cerebellar function in humans. Early studies showe...
Citation: Cerebellum & Ataxias 2016 3:19
Cerebellar ataxia represents a rare and severe complication of Sjӧgren syndrome (SS), especially with a progressive onset and cerebellar atrophy on imaging.
Citation: Cerebellum & Ataxias 2016 3:18
Alcohol-related cerebellar degeneration is one of the commonest acquired forms of cerebellar ataxia. The exact pathogenic mechanisms by which alcohol leads to cerebellar damage remain unknown. Possible autorea...
Citation: Cerebellum & Ataxias 2016 3:17
Several studies have highlighted the therapeutic potential of transcranial direct current stimulation (tDCS) in patients with neurological diseases, including dementia, epilepsy, post-stroke dysfunctions, move...
Citation: Cerebellum & Ataxias 2016 3:16
Low-frequency electrical stimulation to the motor cortex (LFSMC) depresses the excitability of motor circuits by long-term depression (LTD)-like effects. The interactions between LFSMC and cathodal direct curr...
Citation: Cerebellum & Ataxias 2016 3:15
Progression of clinical symptoms and cerebellar atrophy may vary among subtypes of spinocerebellar degeneration and multiple system atrophy. The aim of this cross-sectional study was to demonstrate the relatio...
Citation: Cerebellum & Ataxias 2016 3:14
There exists a lack of consensus regarding how cerebellar over-activity might influence tremor in Parkinson’s disease (PD). Specifically, it is unclear whether resting or postural tremor are differentially aff...
Citation: Cerebellum & Ataxias 2016 3:13
The objective of the present study was an investigation of root Rubia Tinctorum (Madder) as a natural dye to identification of granular layer interneurons of the rat cerebellum.
Citation: Cerebellum & Ataxias 2016 3:12
Vandervert described how, in collaboration with the cerebral cortex, unconscious learning of cerebellar internal models leads to enhanced executive control in working memory in expert music performance and in ...
Citation: Cerebellum & Ataxias 2016 3:10
Fastigial nucleus (FN) is the phylogenetically oldest nucleus in the cerebellum, a classical subcortical motor coordinator. As one of the ultimate integration stations and outputs of the spinocerebellum, the F...
Citation: Cerebellum & Ataxias 2016 3:9
Citation: Cerebellum & Ataxias 2016 3:11
The original article was published in Cerebellum & Ataxias 2014 1:16
Acetyl-DL-leucine is a modified amino acid that was observed to improve ataxic symptoms in patients with sporadic and hereditary forms of ataxia. Here, we investigated the effect of the treatment with Acetyl-D...
Citation: Cerebellum & Ataxias 2016 3:8
Hereditary cerebellar degenerations are a heterogeneous group of diseases often having a detrimental impact on patients’ quality of life. Unfortunately, no sufficiently effective causal therapy is available fo...
Citation: Cerebellum & Ataxias 2016 3:7
Growing neuroimaging and clinical evidence suggests that the cerebellum plays a critical role in perception. In the auditory domain, the cerebellum seems to be important in different aspects of music and sound...
Citation: Cerebellum & Ataxias 2016 3:6
Essential tremor (ET) is a common movement disorder characterized by kinetic, postural and intention tremors. Mounting evidence suggests an underlying dysfunction of the cerebellum or cerebellar system. While ...
Citation: Cerebellum & Ataxias 2016 3:5
Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder that affects the cerebellar system and other subcortical regions of the brain. As for other cerebellar diseases, the severity of this type o...
Citation: Cerebellum & Ataxias 2016 3:4
Benign hereditary chorea is a rare disorder which is characterized by early onset, non-progressive choreic movement disturbance, with other hyperkinetic movements and unsteadiness also commonly seen. Hypothyro...
Citation: Cerebellum & Ataxias 2016 3:3
Spinocerebellar ataxias (SСAs) are a highly heterogeneous group of inherited neurological disorders. The symptoms of ataxia vary in individual patients and even within the same SCA subtype. A study of a four-g...
Citation: Cerebellum & Ataxias 2016 3:2
Cerebellar abnormalities are encountered in a high number of neurological diseases that present in the neonatal period. These disorders can be categorized broadly as inherited (e.g. malformations, inborn error...
Citation: Cerebellum & Ataxias 2016 3:1
Spinocerebellar ataxia type 28 (SCA28) is related to mutations of the ATPase family gene 3-like 2 gene (AFG3L2). To date, 13 private missense mutations have been identified in families of French, Italian, and Ger...
Citation: Cerebellum & Ataxias 2015 2:19
In the majority of right-handed subjects, language processing is subserved by a close interplay between the left cerebral hemisphere and right cerebellum. Within this network, the dominant fronto-insular regio...
Citation: Cerebellum & Ataxias 2015 2:18
There is growing evidence that the cerebellum serves an important role in controlling affect and cognition, and its pathology has been implicated in several psychiatric disorders. Furthermore, the brainstem’s...
Citation: Cerebellum & Ataxias 2015 2:17
Mitochondrial disease can manifest as multi-organ disorder, often with neurological dysfunction. Cerebellar ataxia in isolation or in combination with other features can result from mitochondrial disease yet g...
Citation: Cerebellum & Ataxias 2015 2:16
Crossed cerebello-cerebral diaschisis (CCCD) conventionally refers to decreased resting cerebral activity caused by injury to the contralateral cerebellum. We investigated whether functional activation of a co...
Citation: Cerebellum & Ataxias 2015 2:15
Immune-mediated cerebellar ataxias include gluten ataxia, paraneoplastic cerebellar degeneration, GAD antibody associated cerebellar ataxia, and Hashimoto’s encephalopathy. Despite the identification of an inc...
Citation: Cerebellum & Ataxias 2015 2:14
Holmes proposed not only the term ataxia, but also opposite clinical signs related to muscle recruitment, which have escaped clinical attention; (1) asthenia, representing delay in initiating muscle contraction a...
Citation: Cerebellum & Ataxias 2015 2:13
Many studies are in the literature on the ANP and oxytocin-presence in the brain, but very few studies with controversial results are reported on the presence of these peptides in the cerebellum. This immunohi...
Citation: Cerebellum & Ataxias 2015 2:12
Following in the vein of studies that concluded that music training resulted in plastic changes in Einstein’s cerebral cortex, controlled research has shown that music training (1) enhances central executive a...
Citation: Cerebellum & Ataxias 2015 2:11
Until the end of 18th century, the role of the cerebellum remained obscure. The turning point occurred when Luigi Galvani showed that muscle contraction is due to electricity and Alessandro Volta produced the ...
Citation: Cerebellum & Ataxias 2015 2:10
The aim of this study was to investigate the usefulness of a triaxial accelerometer for the clinical assessment of standing and gait impairment in ataxic patients quantitatively. Fifty-one patients with spinoc...
Citation: Cerebellum & Ataxias 2015 2:9
Neuroimaging plays a key role in the diagnostic work-up of morphological abnormalities of the cerebellum. Diagnostic criteria for numerous morphological anomalies of the cerebellum are based on neuroimaging fi...
Citation: Cerebellum & Ataxias 2015 2:8
The cerebellum is important for motor control, cognition, and language processing. Afferent and efferent fibers are major components of cerebellar circuitry and impairment of these circuits causes severe cereb...
Citation: Cerebellum & Ataxias 2015 2:7
The cerebellum plays an important role for balance control and the coordination of voluntary movements. Beyond that there is growing evidence that the cerebellum is also involved in cognitive functions. How at...
Citation: Cerebellum & Ataxias 2015 2:6
We report a mother and daughter with autosomal recessive ataxia with occulomotor apraxia in whom sequence analysis of senataxin revealed a dignosis of AOA2 (ataxia with occulomotor apraxia type 2) in both indi...
Citation: Cerebellum & Ataxias 2015 2:5
Nerve excitability studies have emerged as a recent novel non-invasive technique that offers complementary information to that provided by more conventional nerve conduction studies, the latter which provide o...
Citation: Cerebellum & Ataxias 2015 2:4
A 50-year-old man presented with a brief history of slurred speech, unsteadiness, double vision and paraesthesia. He had been unwell for 12 days with campylobacter gastroenteritis. On examination, there was op...
Citation: Cerebellum & Ataxias 2015 2:3
Schmahmann’s syndrome represents a novel clinical condition consisting of a constellation of cognitive and affective deficits following cerebellar disease. The complex was first described in 1998 as cerebellar...
Citation: Cerebellum & Ataxias 2015 2:2
Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD) is a hereditary neurodegenerative disorder resulting from the expansion of CAG repeats in the ATXN3 gene. It is the most common autosomal dominant a...
Citation: Cerebellum & Ataxias 2015 2:1
Emerging yet separate literatures have highlighted gait/balance impairments (i.e., mild ataxia) and cognitive problems in patients with essential tremor (ET). However, the relationship between the two has not ...
Citation: Cerebellum & Ataxias 2015 1:19
Most adult-onset sporadic ataxias are unexplained, and the claim that many of these may be a result of gluten sensitivity has led to uncertainty as to whether to test for anti-gliadin antibodies (αGAb) and, if...
Citation: Cerebellum & Ataxias 2014 1:18
Spinocerebellar ataxia (SCA) and multiple system atrophy-cerebellar type (MSA-C) often present with similar clinical manifestations in the beginning. Magnetic resonance spectroscopy (MRS) has been proved to be...
Citation: Cerebellum & Ataxias 2014 1:17
In healthy humans, somatosensory stimulation in the form of 2 h-repetitive peripheral afferent nerve stimulation (SS) increases excitability of the contralateral motor cortex. In this preliminary study, we exp...
Citation: Cerebellum & Ataxias 2014 1:16
The Erratum to this article has been published in Cerebellum & Ataxias 2016 3:11
Opsoclonus-myoclonus syndrome (OMS) is well known as a paraneoplastic syndrome or as a parainfectious neurologic complication. However, OMS associated with a neurodegenerative disorder has not been described p...
Citation: Cerebellum & Ataxias 2014 1:15
Multiple system atrophy is a rare and fatal neurodegenerative disorder characterized by progressive autonomic failure, ataxia and parkinsonism in any combination. The clinical manifestations reflect central au...
Citation: Cerebellum & Ataxias 2014 1:14
The objective of this clinical open-label trial was to test the safety, tolerability and efficacy of IGF-1 therapy for autosomal dominant cerebellar ataxia (ADCA) patients.
Citation: Cerebellum & Ataxias 2014 1:13
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