期刊
JOURNAL OF CHILD NEUROLOGY
卷 27, 期 9, 页码 1133-1137出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073812448230
关键词
Friedreich ataxia; neuropathy; spinocerebellar; cerebellum; cardiomyopathy; diabetes mellitus; pes cavus; dysarthria
资金
- National Institutes of Health [2R13NS040925-14 Revised]
- National Institutes of Health Office of Rare Diseases Research
- Child Neurology Society
- National Ataxia Foundation
Friedreich ataxia, the most common hereditary ataxia, affects approximately 1 per 29,000 white individuals. In about 98% of these individuals, it is due to homozygosity for a GAA trinucleotide repeat expansion in intron 1 of FXN; in the other 2%, it is due to compound heterozygosity for a GAA expansion and point mutation or deletion. The condition affects multiple sites in the central and peripheral nervous system as well as a number of other organ systems, resulting in multiple signs and symptoms. Onset of this autosomal recessive condition is usually in the first 2 decades of life. Major clinical features include progressive ataxia, absent lower limb reflexes, upgoing plantar responses, and peripheral sensory neuropathy. The main nonneurological sites of morbidity are the heart, resulting in cardiomyopathy, and the pancreas, resulting in diabetes mellitus. In this review, we provide an overview of the clinical features of Friedreich ataxia and discuss differential diagnoses.
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