|عنوان فارسی مقاله:||فردریش آتاکسی (FA): وضعیت فعلی و چشم انداز آینده|
|عنوان انگلیسی مقاله:||Friedreich Ataxia: current status and future prospects|
|رشته های مرتبط:||پزشکی، مغز و اعصاب و ژنتیک پزشکی|
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In 1863, Friedreich first described an inherited early onset ataxia associated with kyphoscoliosis and fatty degeneration of the heart in six members from two families associated with degeneration of the dorsal columns and dorsal roots . Friedreich interpreted the disorder as a developmental defect of the medulla oblongata. In analogy to tabes dorsalis, he considered the spinal lesions as mainly inflammatory. Friedreich’s work gained little attention during his lifetime. Only 30 years after Friedreich’s original description, Pierre Marie realized the scientific impact of Nikolaus Friedreich’s work by discriminating FA from dominant ataxias .
In Western populations, the prevalence of FA varies between 1:20 000 and 1:725 000. Epidemiological studies gave evidence of a west to east prevalence gradient in Europe with highest levels in the South of France, North of Spain and Ireland and lowest levels in Scandinavia and Russia . Carrier frequencies vary between 1:55 (North Spain) and 1:336 (Russia) . Human Y chromosome haplotype analyses point to a Franco-Cantabrian ice age refuge origin of the FA carrying population . FA is rare in sub-Saharan African populations and very rare in the Far East.
Onset, progression, and death
FA is a slowly progressive disorder. Usually, the onset of symptoms is during adolescence (mean 15.5 years, SD 8 years) with unsteadiness of gait . Some individuals first seek medical help for scoliosis. One fifth of patients is younger than 5 years at onset . Mean time to loss of independent gait is 8 years . Patients usually become wheelchair bound after a mean disease duration of 11–15 years (range 3 to 44 years) . Disease onset before the age of 20 and cardiac involvement are associated with faster progression of neurological symptoms . Interestingly, clinical symptoms do not progress at the same rate. Dysarthria manifests within 10 to 15 years and diabetes within 16 years whereas loss of proprioception takes more than 40 years to develop. Life expectancy has improved considerably during the last years. Typical causes of death are aspiration pneumonia, cardiac complications (60%), diabetic coma, stroke and trauma sequelae [6, 7]. The presence of diabetes and/or dilated cardiomyopathy has a negative impact on survival. Overall, prognosis seems better in females .
With the identification of the genetic background , atypical forms of FA became identifiable. It then became evident that only 75% of patients could be diagnosed correctly as FA cases based on the original Harding criteria [4, 10]. Late onset FA (LOFA, onset after 25 years) or very late onset FA (VLOFA, onset after 40 years) have a slower progression. Non-neurological symptoms such as cardiomyopathy, diabetes, or skeletal deformities are less frequent. The phenotype is often more spastic with little or no ataxia. Therefore, FA should be considered in the diagnostic work-up even in individuals with onset after 60 years and absence of characteristic features.