Document Detail

The Neuropathology of Late-Onset Friedreich's Ataxia.
MedLine Citation:
PMID:  21128039     Owner:  NLM     Status:  In-Data-Review    
Friedreich's ataxia (FRDA) affects very young persons. In a large series, the mean ages of onset and death were 11 and 38 years, respectively. The clinical spectrum of FRDA has expanded after genetic confirmation of the mutation became a routine laboratory test. The main cause of death in juvenile-onset FRDA is cardiomyopathy whereas patients with late-onset are more likely to succumb to neurological disability or an intercurrent illness. Many patients with early onset now survive for 20 years or longer. This study made a systematic comparison of the neuropathology in 14 patients with juvenile onset and long survival, and five patients with late onset and long survival. Mean ages of onset (± standard deviation) were 10 ± 5 and 28 ± 13 years, respectively. Disease durations were 33 ± 11 and 47 ± 11 years, respectively. Cross-sectional areas of the thoracic spinal cord were greatly reduced from the normal state but did not differ between the two groups. Similarly, the neurons of dorsal root ganglia were significantly reduced in size in both juvenile- and late-onset cases of FRDA. The dentate nucleus showed severe loss of neurons as well as modification and destruction of corticonuclear terminals in all FRDA patients. Delayed atrophy of the dentate nucleus is the likely cause of the ataxic phenotype of FRDA in late-onset cases, but the reason for the delay is unknown. Frataxin levels in the dentate nucleus of two patients with late onset were similar to those of seven patients with juvenile onset.
Arnulf H Koeppen; Jennifer A Morral; Rodney D McComb; Paul J Feustel
Related Documents :
19752449 - Seizure frequency and lateralization affect progression of atrophy in temporal lobe epi...
22691379 - In patients with carcinoid syndrome undergoing valve replacement: will a biological val...
11571329 - Fluid-attenuated inversion recovery: correlations of hippocampal cell densities with si...
12609419 - Hypersexuality after temporal lobe resection.
12581239 - Ictal urinary urge: further evidence for lateralization to the nondominant hemisphere.
17876389 - Temporal pole signal abnormality on mr imaging in temporal lobe epilepsy with hippocamp...
9818899 - Paraneoplastic encephalomyelitis and seminoma: importance of testicular ultrasonography.
23675269 - Salivary ceruloplasmin ferroxidase & oxidase activities in celiac patients.
746359 - Cross-cultural differences in the short-term prognosis of schizophrenic psychoses.
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Cerebellum (London, England)     Volume:  10     ISSN:  1473-4230     ISO Abbreviation:  Cerebellum     Publication Date:  2011 Mar 
Date Detail:
Created Date:  2011-02-14     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101089443     Medline TA:  Cerebellum     Country:  United States    
Other Details:
Languages:  eng     Pagination:  96-103     Citation Subset:  IM    
Research Service (151), VA Medical Center, 113 Holland Ave, Albany, NY, 12208, USA,
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Spinocerebellar Ataxia Type 2 (SCA2): Identification of Early Brain Degeneration in One Monozygous T...
Next Document:  Non-contrast cardiac computed tomography can accurately detect chronic myocardial infarction: Valida...