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 …
of the inherited ataxias. The recent discovery of the gene that is mutated in this condition …
Clinical features of Friedreich ataxia
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 …
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 …
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.
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 …
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
Friedreich ataxia (FRDA), an autosomal recessive, neurodegenerative disease is the most
common inherited ataxia. The vast majority of patients are homozygous for an abnormal …
common inherited ataxia. The vast majority of patients are homozygous for an abnormal …
Autosomal recessive cerebellar ataxias
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare
neurological disorders involving both central and peripheral nervous system, and in some …
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 (FRDA), and in three groups of patients with atypical clinical presentations …
Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities
Mitochondrial dysfunction and oxidative damage are at the origin of numerous
neurodegenerative diseases like Friedreich ataxia and Alzheimer and Parkinson diseases …
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 …
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 …
caused by expansions of an unstable GAA trinucleotide repeat in the STM7/X25 gene on …