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Friedreich's ataxia - Friedreich's ataxia is an autosomal recessive congenital ataxia that occurs rarely in the human population. It is caused by a mutation in Gene X25 that codes for frataxin, located on chromosome 9.
Sensory ataxia - Sensory ataxia both a symptom and a sign in neurology. It is a form of ataxia (loss of coordination) caused not by cerebellar dysfunction but by loss of the sensory input into the control of movement.
Ataxia telangiectasia mutated - Ataxia-telangiectasia mutated (ATM) is a serine/threonine-specific protein kinase that is recruited and activated by double stranded breaks of DNA and the MRN complex. It phosphorylates several key proteins that initiate cell cycle arrest, DNA repair or apoptosis.
Ataxia telangiectasia - Ataxia-telangiectasia (AT) (Boder-Sedgwick syndrome or Louis-Bar syndrome) is a primary immunodeficiency disorder that occurs in an estimated incidence of 1 in 40,000 to 1 in 300,000 births (Lederman, 2000). Telangiectasias are small, red 'spider' veins.
Friedreichs Ataxia Society Ireland - Voluntary organisation providing support to anyone affected by genetic ataxias. Includes events calendar, membership details, and information on accessibility issues.
Friedreich's Ataxia Fact Sheet - A comprehensive resources guide and fact sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke.
Ataxia UK - Charity offering help and support for people suffering from Friedreich s and cerebellar ataxia. Information on the disease, treatment and research.
Source: BazSites.com
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