Inventory of Non-Ataxia Signs (INAS): Validation of a New Clinical Assessment Instrument
The Cerebellum, May 21, 2013
Jacobi H et al. - Although ataxia is by definition the prominent symptom of ataxia disorders, there are various neurological signs that may accompany ataxia in affected patients. Reliable and quantitative assessment of these signs is important because they contribute to disability, but may also interfere with ataxia. The present analysis and published data from the EUROSCA natural history study suggest that INAS is a valid measure of extracerebellar involvement in progressive ataxia ...
Voiding dysfunction in spinocerebellar ataxia type 31
LUTS: Lower Urinary Tract Symptoms, May 21, 2013
Sugiyama M et al. - Authors describe a case of SCA31 who presented with possible neurogenic voiding dysfunction. A 73-year-old man with a 5-year history of cerebellar ataxia developed partial urinary retention. His father and a sister had cerebellar ataxia. Brain magnetic resonance imaging revealed cerebellar atrophy, and gene analysis revealed TGGAA repeat prolongation, and he was diagnosed with spinocerebellar ataxia 31. Urodynamics revealed normal bladder filling but ...
Ocular motor characteristics of different subtypes of spinocerebellar ataxia: Distinguishing features
Movement Disorders, May 10, 2013
Kim JS et al. - The objective for this study was to distinguish the subtypes by ophthalmologic features after head-shaking and positional maneuvers, which are not yet recognized as differential diagnostic tools in most common forms of spinocerebellar ataxias. A paucity of gaze-evoked nystagmus and dysmetric saccades is more indicative of spinocerebellar ataxia 2. Head-shaking and positional maneuvers aid in defining ocular motor characteristics in spinocerebellar ataxias.
Genetic Variation in Ataxia Gene ATXN7 Influences Cerebellar Grey Matter Volume in Healthy Adults
The Cerebellum, May 21, 2013
van der Heijden CDCC et al. - In this study, the authors explored this principle for a group of rare brain disorders, the spinocerebellar ataxias (SCAs). As a proof of concept, they investigated whether genetic variation in a gene known to cause a polyglutamine-expansion SCA is associated with cerebellar volume in healthy adults. The results demonstrate that a common genetic variant in the ataxia-causing gene ATXN7 influences cerebellar grey matter volume in healthy young ...
Inherited Cerebellar Ataxia in Childhood: A Pattern-Recognition Approach Using Brain MRI
American Journal of Neuroradiology, May 21, 2013
Vedolin L et al. - ataxia is the principal symptom of many common neurologic diseases in childhood. ataxias caused by dysfunction of the cerebellum occur in acute, intermittent, and progressive disorders. Most of the chronic progressive processes are secondary to degenerative and metabolic diseases. In addition, congenital malformation of the midbrain and hindbrain can also be present, with posterior fossa symptoms related to ataxia. Brain MR imaging is the most accurate imaging ...
GABAB receptor antibodies in paraneoplastic cerebellar ataxia
Journal of Neuroimmunology, February 4, 2013
Jarius S et al. - Autoantibodies to the gamma-aminobutyric acid-B (GABAB) receptor were recently described in patients with limbic encephalitis presenting with early or prominent seizures. The authors report on a 64-year-old man with malignant melanoma who during adjuvant therapy with interferon (IFN)-alpha developed cerebellar ataxia. This case highlights cerebellar ataxia in the absence of seizures as a clinical manifestation of GABAB receptor autoimmunity ...
Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies
Human Molecular Genetics, May 1, 2013
Bayot A et al. - Friedreich's ataxia (FRDA) is a progressive neurodegenerative disease characterized by ataxia, variously associating heart disease, diabetes mellitus and/or glucose intolerance. In addition to provide new insights into the consequences of the FXN gene expansion, these findings raise the question whether PIP5K1B silencing may contribute to the variable manifestation of this complex disease.
A novel function of Ataxin-1 in the modulation of PP2A activity is dysregulated in the spinocerebellar ataxia type 1
Human Molecular Genetics, May 8, 2013
Sanchez I et al. -An expansion of glutamines within the human ataxin-1 protein underlies spinocerebellar ataxia type 1 (SCA1), a dominantly inherited neurodegenerative disorder characterized by ataxia and loss of cerebellar Purkinje neurons. Although the mechanisms linking the mutation to the disease remain unclear, evidence indicates it involves a combination of both gain and loss of functions of ataxin-1. Results point to dysregulation of this newly-assigned function ...
Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination
New England Journal of Medicine, May 13, 2013
Margolin DH et al. - The combination of ataxia and hypogonadism was first described more than a century ago, but its genetic basis has remained elusive. The syndrome of hypogonadotropic hypogonadism, ataxia, and dementia can be caused by inactivating mutations in RNF216 or by the combination of mutations in RNF216 and OTUD4. These findings link disordered ubiquitination to neurodegeneration and reproductive dysfunction and highlight the power of whole-exome sequencing in ...
Triple therapy with deferiprone, idebenone and riboflavin in Friedreich's ataxia – open-label trial
Acta Neurologica Scandinavica, May 17, 2013
Arpa J et al. - The objective of the study was to test the efficacy, safety and tolerability of triple therapy with deferiprone, idebenone and riboflavin in Friedreich's ataxia (FRDA) patients in a clinical pilot study. The results seem to indicate some uncertain benefit on the neurological and heart functions of this triple therapy in FRDA. Methods Patients included in this study were 10 males and three females, 14–61 years of age (average 30.2 ± 12.1), diagnosed with FRDA with ...