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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
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
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.”
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.
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.”
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