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Aodhán Hickey, Eleanor Gunn, Lisa Alcock, Silvia Del Din, Alan Godfrey, Lynn Rochester, Brook Galna
Biomarkers are required to track disease progression and measure the effectiveness of interventions for people with spinocerebellar ataxia type-6 (SCA6). Gait is a potential biomarker that is sensitive to SCA6 which can be measured using wearable technology, reducing the need for expensive specialist facilities. However, algorithms used to calculate gait using data from wearables have not been validated in SCA6. This study sought to examine the validity of a single wearable for deriving 14 spatio-temporal gait characteristics in SCA6 and control cohorts...
October 25, 2016: Physiological Measurement
Agnieszka Fiszer, Marianna E Ellison-Klimontowicz, Wlodzimierz J Krzyzosiak
Polyglutamine (polyQ) diseases comprise a group of nine genetic disorders that are caused by the expansion of the CAG triplet repeat, which encodes glutamine, in unrelated single genes. Various oligonucleotide (ON)-based therapeutic approaches have been considered for polyQ diseases. The very attractive CAG repeat-targeting strategy offers selective silencing of the mutant allele by directly targeting the mutation site. CAG repeat-targeting miRNA-like siRNAs have been shown to specifically inhibit the mutant gene expression, and their characteristic feature is the formation of mismatches in their interactions with the target site...
October 21, 2016: Acta Biochimica Polonica
Hélio A G Teive, Adriana Moro, Walter O Arruda, Salmo Raskin, Gladys M G Teive, Norberto Dalabrida, Renato P Munhoz
The authors present a historical review of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the most common form of spinocerebellar ataxia in Brazil, and consider the high frequency of cases in families from Itajaí, a city on the coast of the state of Santa Catarina with a large population of Portuguese/Azorean descent.
October 2016: Arquivos de Neuro-psiquiatria
Tomoyuki Masuda, Junko Itoh, Takuya Koide, Yasushi Tomidokoro, Yosuke Takei, Kazuhiro Ishii, Akira Tamaoka
A chronic inflammatory condition may underlie neurodegenerative disorders, including Parkinson's disease (PD) and Alzheimer's disease (AD). For example, both PD and AD patients show an increase in transforming growth factor-β1 (TGF-β1) levels in their cerebrospinal fluid (CSF). TGF-β1 is a cytokine that inhibits inflammation. In the present study, using an enzyme-linked immunosorbent assay, we tested the hypothesis that the level of TGF-β1 in the CSF of patients with amyotrophic lateral sclerosis (ALS), spinocerebellar degeneration (SCD), or multiple system atrophy-cerebellar subtype (MSA-C) would be elevated compared with that of normal controls...
October 15, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Rachael L Cohen, Russell L Margolis
PURPOSE OF REVIEW: Spinocerebellar ataxia type 12 (SCA12) is a rare autosomal dominant neurodegenerative disease characterized by tremor, gait abnormalities, and neuropsychiatric syndromes. The location of the causative CAG/CTG expansion mutation in PPP2R2B, a gene encoding regulatory units of the protein phosphatase 2A, may provide unique insights into the pathogenesis of neurodegeneration. RECENT FINDINGS: The first neuropathological examination of a brain from an SCA12 patient revealed both cerebellar and cerebral cortical atrophy, with a noted loss of Purkinje cells and no evidence of polyglutamine aggregates...
September 29, 2016: Current Opinion in Neurology
Robert C A M van Waardenburg
Tyrosyl-DNA phosphodiesterase I (TDP1), like most DNA repair associated proteins, is not essential for cell viability. However, dysfunctioning TDP1 or ATM (ataxia telangiectasia mutated) results in autosomal recessive neuropathology with similar phenotypes, including cerebellar atrophy. Dual inactivation of TDP1 and ATM causes synthetic lethality. A TDP1H(493)R catalytic mutant is associated with spinocerebellar ataxia with axonal neuropathy (SCAN1), and stabilizes the TDP1 catalytic obligatory enzyme-DNA covalent complex...
2016: Journal of Neurology & Neuromedicine
Isabelle Beaulieu-Boire, Camila C Aquino, Alfonso Fasano, Yu-Yan Poon, Melanie Fallis, Antony E Lang, Mojgan Hodaie, Suneil K Kalia, Andres Lozano, Elena Moro
BACKGROUND: Rare causes of inherited movement disorders often present with a debilitating phenotype of dystonia, sometimes combined with parkinsonism and other neurological signs. Since these disorders are often resistant to medications, DBS may be considered as a possible treatment. METHODS: Patients with identified genetic diseases (ataxia-telangiectasia, chorea-achantocytosis, dopa-responsive dystonia, congenital nemaline myopathy, methylmalonic aciduria, neuronal ceroid lipofuscinosis, spinocerebellar ataxia types 2 and 3, Wilson's disease, Woodhouse-Sakati syndrome, methylmalonic aciduria, and X trisomy) and disabling dystonia underwent bilateral GPi DBS (bilateral thalamic Vim nucleus in 1 case)...
October 4, 2016: Brain Stimulation
Lodewijk J A Toonen, Iris Schmidt, Martijn S Luijsterburg, Haico van Attikum, Willeke M C van Roon-Mom
Spinocerebellar ataxia type-3 (SCA3) is a neurodegenerative disorder caused by a polyglutamine repeat expansion in the ataxin-3 protein. Cleavage of mutant ataxin-3 by proteolytic enzymes yields ataxin-3 fragments containing the polyglutamine stretch. These shorter ataxin-3 fragments are thought to be involved in SCA3 pathogenesis due to their increased cellular toxicity and their involvement in formation of the characteristic neuronal aggregates. As a strategy to prevent formation of toxic cleavage fragments, we investigated an antisense oligonucleotide-mediated modification of the ataxin-3 pre-mRNA through exon skipping of exon 8 and 9, resulting in the removal of a central 88 amino acid region of the ataxin-3 protein...
October 12, 2016: Scientific Reports
Luis Velázquez-Pérez, Johannes Tünnerhoff, Roberto Rodríguez-Labrada, Reidenis Torres-Vega, Paolo Belardinelli, Jacqueline Medrano-Montero, Arnoy Peña-Acosta, Nalia Canales-Ochoa, Yaimeé Vázquez-Mojena, Yanetza González-Zaldivar, Georg Auburger, Ulf Ziemann
Clinical signs of corticospinal tract dysfunction are a common feature of spinocerebellar ataxia type 2 (SCA2) patients. The objective of this study is to assess dysfunction of the corticospinal tract in SCA2 using corticomuscular coherence. Testing corticomuscular coherence and rating of ataxia severity and non-ataxia symptoms were performed in 19 SCA2 patients and 24 age-matched controls. Central motor conduction times (CMCT) to upper and lower right limbs were obtained for the SCA2 group using Transcraneal magnetic stimulation (TMS)...
October 11, 2016: Cerebellum
Alana Christina Gast, Julia Metzger, Andrea Tipold, Ottmar Distl
BACKGROUND: Spinocerebellar ataxia also referred to as hereditary ataxia comprises different forms of progressive neurodegenerative diseases. A complex mode of inheritance was most likely in Parson Russell Terriers (PRT) and in Jack Russell Terriers (JRT). Recently, the missense mutation KCNJ10:c.627C > G was shown to be associated with the spinocerebellar ataxia (SCA) in JRT and related Russell group of terriers, whereas the missense mutation CAPN1:c.344G > A was associated with late onset ataxia (LOA) in PRT...
October 10, 2016: BMC Veterinary Research
Matsuo Matsushita
The crossed spinocerebellar tracts originate from neurons in the basolateral part of lamina V, the sacral nuclei of Stilling and the ventrolateral part of the ventral horn of the L6 to caudal segments. The present study examined their projection areas in the cerebellar cortex by using anterograde labeling of mossy fiber terminals with biotinylated dextran in the rat. Labeled terminals were distributed bilaterally in lobules I-V of the anterior lobe. They were most abundant in the apical parts of the lateral vermis and the intermediate region of lobules Ib and IIa, and the rostral side of lobule IIb...
October 5, 2016: Neuroscience Research
Carmen Rodríguez-Cueto, Mariluz Hernández-Gálvez, Cecilia J Hillard, Patricia Maciel, Luis García-García, Sara Valdeolivas, Miguel A Pozo, José A Ramos, María Gómez-Ruiz, Javier Fernández-Ruiz
Spinocerebellar ataxia type-3 (SCA-3) is a rare disease but it is the most frequent type within the autosomal dominant inherited ataxias. The disease lacks an effective treatment to alleviate major symptoms and to modify disease progression. Our recent findings that endocannabinoid receptors and enzymes are significantly altered in the post-mortem cerebellum of patients affected by autosomal-dominant hereditary ataxias suggest that targeting the endocannabinoid signaling system may be a promising therapeutic option...
October 4, 2016: Neuroscience
Sheng-Han Kuo, Chi-Ying Lin, Jie Wang, Peter A Sims, Ming-Kai Pan, Jyun-You Liou, Danielle Lee, William J Tate, Geoffrey C Kelly, Elan D Louis, Phyllis L Faust
Changes in climbing fiber-Purkinje cell (CF-PC) synaptic connections have been found in the essential tremor (ET) cerebellum, and these changes are correlated with tremor severity. Whether these postmortem changes are specific to ET remains to be investigated. We assessed CF-PC synaptic pathology in the postmortem cerebellum across a range of degenerative movement disorders [10 Parkinson's disease (PD) cases, 10 multiple system atrophy (MSA) cases, 10 spinocerebellar ataxia type 1 (SCA1) cases, and 20 ET cases] and 25 controls...
October 4, 2016: Acta Neuropathologica
Geeta Anjum Khwaja, Abhilekh Srivastava, Vijay Vishwanath Ghuge, Neera Chaudhry
Dystonia can be encountered in a small subset of patients with spinocerebellar ataxia (SCA), but task specific dystonia is extremely rare. We report a case of a 48-year-old male with confirmed SCA Type 1 (SCA1) with mild progressive cerebellar ataxia and a prominent and disabling Writer's cramp. This case highlights the ever-expanding phenotypic heterogeneity of the SCA's in general and SCA1 in particular.
October 2016: Journal of Neurosciences in Rural Practice
Michelle A Farrar, Steve Vucic, Garth Nicholson, Matthew C Kiernan
OBJECTIVE: Spinocerebellar ataxia type 3 (SCA3) is an inherited neurodegenerative disorder characterized by cerebellar ataxia and variable expression of clinical features beyond the cerebellum. To gain further insights into disease pathophysiology, the present study explored motor cortex function in SCA3 to determine whether cortical dysfunction was present and if this contributed to the development of clinical manifestations. METHODS: Clinical phenotyping and longitudinal assessments were combined with central (threshold-tracking transcranial magnetic stimulation) and peripheral (nerve excitability) techniques in 11 genetically characterized SCA3 patients...
September 15, 2016: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
Megan S Keiser, Alejandro Mas Monteys, Romuald Corbau, Pedro Gonzalez-Alegre, Beverly L Davidson
OBJECTIVE: Spinocerebellar ataxia type 1 is an autosomal dominant fatal neurodegenerative disease caused by a polyglutamine expansion in the coding region of ATXN1. We showed previously that partial suppression of mutant ataxin-1 (ATXN1) expression, using virally-expressed RNAi triggers, could prevent disease symptoms in a transgenic mouse model and a knock in mouse model of the disease, using a single dose of virus. Here, we set out to test if RNAi triggers targeting ATXN1 could not only prevent, but also reverse disease readouts when delivered after symptom onset...
September 30, 2016: Annals of Neurology
Jordan Vielotte
OBJECTIVE: Hypermetric tremors, i.e. of cerebellar origin (essential tremor, cerebellar stroke or tumor, multiple sclerosis, hereditary spinocerebellar ataxias), directly relate to iterative hypermetria by delayed antagonist correction at each movement and cause significant functional and social difficulties. Botulinum toxin injections (BoNT) can reduce the amplitude of any tremor, but at the expense of muscle weakening when the injection is performed on both agonists and antagonists contributing to tremor...
September 2016: Annals of Physical and Rehabilitation Medicine
Ryusuke Ae, Koki Kosami, Shinsuke Yahata
Hypergranulation tissue formation around a gastrostomy tube insertion site is a common feeding tube-related complication that affects patients who receive long-term enteral nutrition. Some clinicians recommend use of a topical corticosteroid in patients with gastrostomy tube insertion site hypergranulation. However, documentation is scant regarding appropriate treatment for this condition. This case report describes a 67-year-old bedridden man with spinocerebellar degeneration who presented with hypergranulation at the site of the gastrostomy tube, inserted 1 week earlier...
September 2016: Ostomy/wound Management
Aurore Nkiliza, Eugénie Mutez, Clémence Simonin, Frédéric Leprêtre, Aurélie Duflot, Martin Figeac, Céline Villenet, Pierre Semaille, Thomas Comptdaer, Alexandre Genet, Bernard Sablonnière, David Devos, Luc Defebvre, Alain Destée, Marie-Christine Chartier-Harlin
CAG triplet expansions in Ataxin-2 gene (ATXN2) cause spinocerebellar ataxia type 2 and have a role that remains to be clarified in Parkinson's disease (PD). To study the molecular events associated with these expansions, we sequenced them and analyzed the transcriptome from blood cells of controls and three patient groups diagnosed with spinocerebellar ataxia type 2 (herein referred to as SCA2c) or PD with or without ATXN2 triplet expansions (named SCA2p). The transcriptome profiles of these 40 patients revealed three main observations: i) a specific pattern of pathways related to cellular contacts, proliferation and differentiation associated with SCA2p group, ii) similarities between the SCA2p and sporadic PD groups in genes and pathways known to be altered in PD such as Wnt, Ephrin and Leukocyte extravasation signaling iii) RNA metabolism disturbances with "RNA-binding" and "poly(A) RNA-binding" as a common feature in all groups...
September 20, 2016: Neurobiology of Disease
Sara D Reis, Brígida R Pinho, Jorge M A Oliveira
Polyglutamine expansion mutations in specific proteins underlie the pathogenesis of a group of progressive neurodegenerative disorders, including Huntington's disease, spinal and bulbar muscular atrophy, dentatorubral-pallidoluysian atrophy, and several spinocerebellar ataxias. The different mutant proteins share ubiquitous expression and abnormal proteostasis, with misfolding and aggregation, but nevertheless evoke distinct patterns of neurodegeneration. This highlights the relevance of the full protein context where the polyglutamine expansion occurs and suggests different interactions with the cellular proteostasis machinery...
September 22, 2016: Molecular Neurobiology
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