| Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature. | |
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MedLine Citation:
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PMID: 16344344 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Friedreich ataxia (FA), the most common hereditary ataxia, is caused by pathological expansion of GAA repeats in the first intron of the X25 gene on chromosome 9. Since the discovery of the gene, atypical features are increasingly recognized in individuals with FA, and up to 25% of patients with recessive or sporadic ataxia do not fulfill the Harding or Quebec Cooperative Study on Friedreich's Ataxia criteria for FA. Late-onset FA (LOFA) is defined as onset after age 25 years. OBJECTIVES: To describe and further delineate the clinical and magnetic resonance imaging findings in patients with LOFA and to review the literature. DESIGN: Clinical evaluation and comparison of clinical data and investigations. SETTING: Ataxia clinics at UCLA and Cedars-Sinai Medical Center. PATIENTS: Thirteen patients with LOFA with 13 sex-matched and Inherited Ataxia Progression Scale-matched patients with typical FA. RESULTS: Gait and limb ataxias were seen in all the participants. Dysarthria, loss of vibration sense, and abnormal eye movements were also common in both groups. Patients with LOFA more often had lower limb spasticity (40% vs 0%; chi2 = 4.0; P = .04) and retained reflexes (46.1% vs 7.7%; chi2 = 3.46; P = .05). They had no complaint of sphincter disturbances, and there was no evidence of cardiomyopathy on echocardiograms (chi2 = 4.0; P = .04). Five of 9 patients with LOFA had cerebellar atrophy on neuroimaging. CONCLUSIONS: Patients with gait and limb ataxias, dysarthria, loss of vibration sense, and fixational instability after age 25 years should be considered for molecular testing for GAA expansion in the FA gene. In contrast to previous studies, cerebellar vermian atrophy is not an uncommon finding. |
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Authors:
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Roongroj Bhidayasiri; Susan L Perlman; Stefan-M Pulst; Daniel H Geschwind |
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Publication Detail:
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Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. |
Journal Detail:
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Title: Archives of neurology Volume: 62 ISSN: 0003-9942 ISO Abbreviation: Arch. Neurol. Publication Date: 2005 Dec |
Date Detail:
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Created Date: 2005-12-13 Completed Date: 2006-01-20 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 0372436 Medline TA: Arch Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 1865-9 Citation Subset: AIM; IM |
Affiliation:
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Department of Neurology, UCLA Medical Center, Los Angeles, Calif, USA. rbh@ucla.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Age of Onset Aged Atrophy / etiology, pathology, physiopathology Brain / pathology, physiopathology* Brain Stem / pathology, physiopathology Cerebellum / pathology, physiopathology Female Friedreich Ataxia / epidemiology, pathology, physiopathology* Gait Ataxia / etiology, pathology, physiopathology Humans Magnetic Resonance Imaging Male Middle Aged Muscle Spasticity / etiology, pathology, physiopathology Neural Conduction / physiology Peripheral Nerves / pathology, physiopathology* Phenotype Reflex, Abnormal / physiology Retrospective Studies Somatosensory Disorders / etiology, pathology, physiopathology Spinal Cord / pathology, physiopathology* |
| Grant Support | |
ID/Acronym/Agency:
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R01 NS33123/NS/NINDS NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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