The Net Guide: Ataxia

MDNG PsychiatryJune 2010
Volume 12
Issue 2

We searched the net guide to find ataxia resources so you don't have to.

Type the link codes in the search window above to access the third-party resource.

The Educated PatientTM

Friedreich's Ataxia Fact Sheet

The National Institute of Neurological Disorders and Stroke provides this site, providing reliable, thorough answers to eight commonly asked questions about Friedreich’s ataxia. Beyond providing information on signs and symptoms, diagnosis, and treatment, the site delves into the services that are useful to patients and their families, what current research is being performed, and where site visitors can go to obtain more reputable information.

Link Code: pn12226

National Ataxia Foundation — Resources

Patients who visit this section of the NAF site can access the archives of Generations, a quarterly publication meant to bring “news of ataxia research, strategies for coping, personal stories, support group information and a little relaxation.” Also available here are an extensive collection of downloadable ataxia fact sheets, a resource providing contact information for physicians across the country who see patients with ataxia, a lengthy list of caregiver resources, and links to much information on legislative issues that can have an impact on patients with ataxia.

Link Code: pn12227

Medical Websites

Management of the Ataxias: Towards Best Clinical Practice

Though intended for British healthcare professionals, these guidelines, published in November 2009, will certainly prove useful to US physicians who treat patients with ataxia. The guidelines “focus on the progressive ataxias (rare neurological conditions), and exclude disorders where ataxia is an epiphenomenon of another neurological condition,” aiming to provide recommendations for healthcare professionals on the diagnosis and management of people with ataxia.” Those looking for additional information can e-mail the creators through the e-mail address provided at the site.

Link Code: pn12211

Clinical Trials

Characteristics of Episodic Ataxia Syndrome

Study Type: Observational

Age/Gender Requirement: 5 years+ (male/female)

Sponsor: Office of Rare Diseases

Purpose: To better characterize episodic ataxia and disease progression, hopefully to help direct development of future treatments, as the underlying cause of the condition is only partially understood, no treatments are currently established, and there is little known regarding the association between episodic ataxia clinical features and genetic basis.

Link Code: pn12266

Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10

Study Type: Observational

Age/Gender Requirement: Not Listed (male/female)

Sponsor: National Institute of Neurological Disorders and Stroke

Purpose: To clinically “evaluate members from families with dominantly inherited ataxias and collect blood samples for detailed molecular studies” and to perform “detailed clinical evaluations on patients with recessively inherited ataxias.”

Link Code: pn12267

Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias

Study Type: Observational

Age/Gender Requirement: 6 years+ (male/female)

Sponsor: University of Florida

Purpose: To bring “together a group of experts in the field of” spinocerebellar ataxias in order to better understand how the disease progresses, the best ways to measure progression, and whether genes aside from that which is abnormal in spinocerebellar ataxias have an effect on how the disease behaves.

Link Code: pn12268


Activation of Ataxia Telangiectasia Muted Under Experimental Models and Human Parkinson's Disease

Journal: Cellular and Molecular Life Sciences (May 25, 2010)

Authors: Camis A, Pizarro J, Alvira D, et al.

Purpose: To determine if “neurotoxin MPP+-induced DNA damage is followed by ataxia telangiectasia muted (ATM) activation either in cerebellar granule cells (CGC) or in B65 cell line.”

Results: The researchers found a “new link between DNA damage by MPP+ and cell-cycle re-entry through retinoblastoma protein phosphorylation.”

Link Code:pn12254

Assessment of Brain White Matter Fiber Bundle Atrophy in Patients with Friedreich Ataxia

Journal: Radiology (June 2010)

Authors: Pagani E, Ginestroni A, Della Nave R, et al.

Purpose: “To investigate in vivo severity and topographic distribution of brain white matter (WM) fiber bundle atrophy in patients with Friedreich ataxia, a condition characterized by an uneven involvement of brain WM, and to correlate such findings with the clinical status of the patients.”

Results: Obtaining in vivo atrophy estimates—which correlate with clinical status—of specific brain WM fiber bundles in patients with Friedreich ataxia is feasible and “has the potential to provide new information that is likely to improve the understanding of the pathophysiology of inherited ataxias.”

Link Code: pn12255

The Therapeutic Mode of Action of 4-aminopyridine in Cerebellar Ataxia

Journal: The Journal of Neuroscience (May 26, 2010)

Authors: Alviña K, Khodakhah K

Purpose: To “show that, in contrast to what is commonly believed, therapeuticconcentrations of 4-AP do not increase the inhibitory driveof cerebellar Purkinje cells.”

Results: “4-AP restores the severelydiminished precision of pacemaking in Purkinje cells of EA2mutant mice by prolonging the action potential and increasingthe action potential afterhyperpolarization. Consistent withthis mode of action, the therapeutic efficacy of 4-AP was comparable,and not additive, to chlorzoxazone, an activator of Ca2+-dependentK+ channels that also restores the precision of Purkinje cellpacemaking. The likely target of 4-AP at the concentrationsused are the Kv1 family of K+ channels, possibly the Kv1.5 subtype.Because at higher concentrations 4-AP blocks a large array ofK+ channels and is a proconvulsant, use of selective Kv1 channelblockers is likely to be a safer substitute for treatment ofcerebellar ataxia.”

Link Code: pn12256


Second Annual Friedreich’s Ataxia Symposium

The Friedreich’s Ataxia Program at The Children’s Hospital of Philadelphia presents this series of videos featuring highlights from a one-day symposium, held in November 2009 and meant to provide “patients and families with up to date clinical information, therapeutic approaches and current research being conducted in the field of Friedreich’s Ataxia.” The seven videos include pieces focusing on scoliosis, biochemical mechanisms, neurological perspectives, and pathways to clinical trial.

Link Code:pn1223311

Pharma Focus

Rilutek (riluzole)


Riluzole in Cerebellar Ataxia: A Randomized, Double-blind, Placebo-controlled Pilot Trial

Journal: Neurology (March 9, 2010)

Authors: Ristori G, Romano S, Visconti A, et al.

Purpose: To test the hypothesis that “riluzole may antagonizecommon mechanisms underlying chronic cerebellar ataxia, a debilitatingand untreatable consequence of various diseases.”

Results: Riluzole “reduces, by at least 5 points, the ICARS scorein patients with a wide range of disorders that cause cerebellarataxia,” indicating “the potential effectivenessof riluzole as symptomatic therapy in diverse forms of cerebellarataxia.”

Link Code:pn12257

Clinical Trials

Efficacy of Riluzole in Hereditary Cerebellar Ataxia

Study Type: Interventional

Age/Gender Requirement: 18-70 years (male/female)

Sponsor: S. Andrea Hospital

Purpose: To test the safety and efficacy of riluzole administration for a long period in a large sample size of patients and with stringent diagnostic criteria.

Link Code: pn12269

Related Videos
HCPLive Five at APA 2024 | Image Credit: HCPLive
John M. Oldham, MD: A History of Personality Disorder Pathology
Franklin King, MD: Psychedelic Therapy History, Advances, and Hurdles
Robert Weinrieb, MD: Psychiatry-Hepatology Approach for Alcohol-Related Liver Disease
Etienne Sibille, PhD: Innovations in Cognitive Pathology
Katharine Phillips, MD: Various Treatments for Obsessive-Compulsive Disorders
Manish Jha, MD: Treatment Options for Treatment-Resistant Depression
Katharine Phillips, MD: Differences Between OCD, Body Dysmorphic Disorder
Brian Barnett, MD: Psychedelics Fitting into the SUDs Treatment Paradigm
© 2024 MJH Life Sciences

All rights reserved.