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...
Authors: Roman Schniepp, Michael Strupp, Max Wuehr, Klaus Jahn, Marianne Dieterich, Thomas Brandt and Katharina Feil
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...
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 ...
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...
Authors: Carlotta Lega, Tomaso Vecchi, Egidio D’Angelo and Zaira Cattaneo
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...
Authors: Irene Pulido-Valdeolivas, David Gómez-Andrés, Irene Sanz-Gallego, Estrella Rausell and Javier Arpa
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...
Authors: Jeanette Koht, Sven Olav Løstegaard, Iselin Wedding, Marie Vidailhet, Malek Louha and Chantal ME Tallaksen
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...
Authors: Jessica L. Klein, Monica E. Lemmon, Frances J. Northington, Eugen Boltshauser, Thierry A. G. M. Huisman and Andrea Poretti
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...
Authors: M. I. Shadrina, M. V. Shulskaya, S. A. Klyushnikov, T. Nikopensius, M. Nelis, P. A. Kivistik, A. A. Komar, S. A. Limborska, S. N. Illarioshkin and P. A. Slominsky
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...
Authors: Christine Zühlke, Barbara Mikat, Dagmar Timmann, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach and Katrin Bürk
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...
Authors: Kim van Dun, Elke De Witte, Wendy Van Daele, Wim Van Hecke, Mario Manto and Peter Mariën
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...
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...
Authors: David Bargiela, Priya Shanmugarajah, Christine Lo, Emma L. Blakely, Robert W. Taylor, Rita Horvath, Stephen Wharton, Patrick F. Chinnery and Marios Hadjivassiliou
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...
Authors: Takayuki Nakahachi, Ryouhei Ishii, Leonides Canuet and Masao Iwase
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...
Authors: Hiroshi Mitoma, Marios Hadjivassiliou and Jérôme Honnorat
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...
Authors: Takahiro Ishikawa, Shinji Kakei and Hiroshi Mitoma
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...
Authors: Alessio Lipari, Elvira Farina, Aldo Gerbino and Luana Lipari
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...
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 ...
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...
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...
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...
Authors: Maryam Rahimi-Balaei, Pegah Afsharinezhad, Karen Bailey, Matthew Buchok, Behzad Yeganeh and Hassan Marzban
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...
Authors: Heike Jacobi, Juliane Alfes, Martina Minnerop, Jürgen Konczak, Thomas Klockgether and Dagmar Timmann
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...
Authors: Laurence Newrick, Malcolm Taylor and Marios Hadjivassiliou
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...
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...
Authors: Robert D Sandler, Nigel Hoggard and Marios Hadjivassiliou
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...
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...
Authors: Yanetza González-Zaldívar, Yaimeé Vázquez-Mojena, José M Laffita-Mesa, Luis E Almaguer-Mederos, Roberto Rodríguez-Labrada, Gilberto Sánchez-Cruz, Raúl Aguilera-Rodríguez, Tania Cruz-Mariño, Nalia Canales-Ochoa, Patrick MacLeod and Luis Velázquez-Pérez
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 ...
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...
Authors: Volga Tarlac, Louise Kelly, Robert P Anderson, Nicole Bye and Elsdon Storey
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...
Authors: Hung-Chieh Chen, Jiing-Feng Lirng, Bing-Wen Soong, Wan Yuo Guo, Hsiu-Mei Wu, Clayton Chi-Chang Chen and Cheng-Yen Chang
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...
Authors: Suzete Nascimento Farias da Guarda and Adriana Bastos Conforto
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...
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...
Authors: Ludovico Ciolli, Florian Krismer, Ferdinando Nicoletti and Gregor K Wenning
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.
Authors: Irene Sanz-Gallego, Francisco J Rodriguez-de-Rivera, Irene Pulido, Ignacio Torres-Aleman and Javier Arpa
Cortical myoclonus with ataxia has only rarely been reported in association with Coeliac Disease (CD). Such reports also suggested that it is unresponsive to gluten-free diet. We present detailed electro-clini...
Authors: Ptolemaios G Sarrigiannis, Nigel Hoggard, Daniel Aeschlimann, David S Sanders, Richard A Grünewald, Zoe C Unwin and Marios Hadjivassiliou
Clinical case descriptions and experimental evidence dating back to the early part of the 19th century from time to time documented a range of nonmotor cognitive and affective impairments following cerebellar ...
The number of studies highlighting the role of microRNAs (miRNAs) in human physiology and diseases is growing, but many miRNA-driven regulatory mechanisms remain elusive. A proper understanding of the exact fu...
Authors: Edyta Koscianska and Wlodzimierz J Krzyzosiak
We report the case of a 25 year-old patient who underwent morphological and functional brain magnetic resonance imaging (fMRI) to investigate a left neocerebellar hypoplasia discovered incidentally. We compare...
Polyglutamine (polyQ) diseases are a group of neurodegenerative conditions, induced from CAG trinucleotide repeat expansion within causative gene respectively. Generation of toxic proteins, containing polyQ-ex...
Friedreich’s ataxia is an autosomal recessive, severely incapacitating disorder. There is little objective evidence regarding FRDA management. Abnormalities in the insulin/insulin-like growth factor 1 (IGF-1) ...
Authors: Irene Sanz-Gallego, Ignacio Torres-Aleman and Javier Arpa
Two affected and one unaffected siblings from a French-Canadian family were evaluated in our neurogenetic clinic. The oldest brother had intentional and postural hand tremor while his youngest sister presented...
Authors: Anne Noreau, Philippe Beauchemin, Alexandre Dionne-Laporte, Patrick A Dion, Guy A Rouleau and Nicolas Dupré
Ataxic mutant mice can be used to represent models of cerebellar degenerative disorders. They serve for investigation of cerebellar function, pathogenesis of degenerative processes as well as of therapeutic ap...
Spinocerebellar ataxia type 7 (SCA7) is a genetic disorder characterized by degeneration of the motor and visual systems. Besides neural deterioration, these patients also show functional connectivity changes ...
Authors: Carlos R Hernandez-Castillo, Víctor Galvez, Consuelo Morgado-Valle and Juan Fernandez-Ruiz
Histaminergic afferent system of the cerebellum, having been considered as an essential component of the direct hypothalamocerebellar circuits, originates from the tuberomammillary nucleus in the hypothalamus....
Rapid uptake of glutamate by neuronal and glial glutamate transporters (EAATs, a family of excitatory amino acid transporters) is critical for shaping synaptic responses and for preventing excitotoxicity. Two ...
