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Pseudodominance in Friedreich Ataxia—Impact of High Prevalence of Carriers and Intrafamilial Clinical Variation

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Friedreich ataxia (FA) is the most common form of autosomal recessive (AR) ataxia. It is a rare disease, but carriers are frequent (1/100). Pseudodominance in FA has seldomly been reported;… Click to show full abstract

Friedreich ataxia (FA) is the most common form of autosomal recessive (AR) ataxia. It is a rare disease, but carriers are frequent (1/100). Pseudodominance in FA has seldomly been reported; it may pose additional challenges for diagnosis.

Keywords: high prevalence; impact high; friedreich ataxia; pseudodominance; pseudodominance friedreich; ataxia impact

Journal Title: Movement Disorders Clinical Practice
Year Published: 2023

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