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Friedreich Ataxia

Known as: Spinal Sclerosis, Hereditary, Ataxia, Friedreich's, Familial Ataxia, Friedreich's 
An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior… 
National Institutes of Health

Related topics

Related topics

22 relations

Broader (4)

AtaxiaAtaxias, HereditaryHereditary DiseasesSpinocerebellar Degeneration
Ataxia, SpinocerebellarCentral Nervous SystemCerebellar Degenerations, PrimaryCerebellar Diseases

Narrower (3)

FRIEDREICH ATAXIA 1FRIEDREICH ATAXIA WITH RETAINED REFLEXESFriedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2007
Review
2007
The molecular biology and clinical features of amyloid neuropathy
Neuropathy is often a major manifestation of systemic amyloidosis. It is most frequently seen in patients with hereditary… 
Highly Cited
2003
Highly Cited
2003
Gluten ataxia in perspective: epidemiology, genetic susceptibility and clinical characteristics.
We previously have described a group of patients with gluten sensitivity presenting with ataxia (gluten ataxia) and suggested… 
Review
2003
Review
2003
Iron Metabolism in the Reticuloendothelial System
Comprised mainly of monocytes and tissue macrophages, the reticuloendothelial system (RES) plays two major roles in iron… 
Highly Cited
2002
Highly Cited
2002
Nitric oxide-induced cellular stress and p53 activation in chronic inflammation
Free radical-induced cellular stress contributes to cancer during chronic inflammation. Here, we investigated mechanisms of p53… 
Review
2001
Review
2001
Chemistry and biology of eukaryotic iron metabolism.
Highly Cited
1999
Highly Cited
1999
ATM associates with and phosphorylates p53: mapping the region of interaction
The human genetic disorder ataxia-telangiectasia (AT) is characterized by immunodeficiency, progressive cerebellar ataxia… 
Highly Cited
1998
Highly Cited
1998
The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure.
Friedreich ataxia (FRDA), an autosomal recessive, neurodegenerative disease is the most common inherited ataxia. The vast… 
Review
1997
Review
1997
Intranuclear Neuronal Inclusions: A Common Pathogenic Mechanism for Glutamine-Repeat Neurodegenerative Diseases?
Highly Cited
1988
Highly Cited
1988
Mapping of mutation causing Friedreich's ataxia to human chromosome 9
Friedreich's ataxia is an autosomal recessive disease with progressive degeneration of the central and peripheral nervous system1… 
Highly Cited
1982
Highly Cited
1982
The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.
  • A. Harding
  • Brain : a journal of neurology
  • 1982
  • Corpus ID: 31855523
The clinical features of 11 families containing 73 individuals with dominantly inherited cerebellar ataxia of late onset are… 
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