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Prenatal diagnosis of Friedreich ataxia

✍ Scribed by Massimo Pandolfo; Laura Montermini

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 110 KB
Volume: 18
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(199808)18:8<831::aid-pd437>3.0.co;2-n

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✦ Synopsis

Friedreich ataxia (FRDA) is an autosomal recessive disorder, the most common of the inherited ataxias. It has an estimated prevalence of 1 in 50 000 and a carrier frequency of about 1 in 90 in Caucasians (Cosse ´e et al., 1997;Leone et al., 1990). It is extremely rare among the Chinese and Japanese (Pandolfo, unpublished results; Tsuji, personal communication).

FRDA is caused by a deficiency of frataxin, a protein localized in the inner mitochondrial membrane (Campuzano et al., 1997. The yeast frataxin homologue is involved in iron homeostasis. Frataxin deficiency may result in iron-mediated generation of free radials with mitochondrial damage and cell death (Babcock et al., 1997).

Onset of FRDA is usually before age 25 and is characterized by progressive gait ataxia, loss of tendon reflexes and vibration sense in the lower limbs, dysarthria and pyramidal signs. Scoliosis,

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