Friedreich ataxia: an overview

MB Delatycki, R Williamson, SM Forrest - Journal of medical genetics, 2000 - jmg.bmj.com
Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common
of the inherited ataxias. The recent discovery of the gene that is mutated in this condition …

Clinical features of Friedreich ataxia

MB Delatycki, LA Corben - Journal of child neurology, 2012 - journals.sagepub.com
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 …

Clinical and genetic abnormalities in patients with Friedreich's ataxia

A Dürr, M Cossee, Y Agid, V Campuzano… - … England Journal of …, 1996 - Mass Medical Soc
Background Friedreich's ataxia, the most common inherited ataxia, is associated with a
mutation that consists of an unstable expansion of GAA repeats in the first intron of the …

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.

A Filla, G De Michele, F Cavalcanti… - American journal of …, 1996 - ncbi.nlm.nih.gov
Friedreich ataxia (FA) is associated with the expansion of a GAA trinucleotide repeat in the
first intron of the X25 gene. We found both alleles expanded in 67 FA patients from 48 Italian …

The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure

SI Bidichandani, T Ashizawa, PI Patel - The American Journal of Human …, 1998 - cell.com
Friedreich ataxia (FRDA), an autosomal recessive, neurodegenerative disease is the most
common inherited ataxia. The vast majority of patients are homozygous for an abnormal …

Autosomal recessive cerebellar ataxias

F Palau, C Espinós - Orphanet journal of rare diseases, 2006 - Springer
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare
neurological disorders involving both central and peripheral nervous system, and in some …

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion

L Montermini, A Richeter, K Morgan… - Annals of Neurology …, 1997 - Wiley Online Library
We studied genotype‐phenotype correlations in a group of 100 patients with typical
Friedreich ataxia (FRDA), and in three groups of patients with atypical clinical presentations …

Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities

R Santos, S Lefevre, D Sliwa, A Seguin… - Antioxidants & redox …, 2010 - liebertpub.com
Mitochondrial dysfunction and oxidative damage are at the origin of numerous
neurodegenerative diseases like Friedreich ataxia and Alzheimer and Parkinson diseases …

Increased iron in the dentate nucleus of patients with Friedreich's ataxia

D Waldvogel, P Van Gelderen, M Hallett - Annals of neurology, 1999 - Wiley Online Library
Friedreich's ataxia (FA) is the most frequently inherited ataxia. To test the hypothesis that
iron is increased in the cerebellum of patients with FA, we developed a multigradient echo …

Friedreich's ataxia. Revision of the phenotype according to molecular genetics.

L Schöls, G Amoiridis, H Przuntek… - Brain: a journal of …, 1997 - academic.oup.com
Friedreich's ataxia is an autosomal recessively inherited neurodegenerative disorder
caused by expansions of an unstable GAA trinucleotide repeat in the STM7/X25 gene on …