TITLE

Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich's ataxia

AUTHOR(S)
Santoro, L.; De Michele, G.; Perretti, A.; Crisci, C.; Cocozza, S.; Cavalcanti, F.; Ragno, M.; Monticelli, A.; Filla, A.; Caruso, G.
PUB. DATE
January 1999
SOURCE
Journal of Neurology, Neurosurgery & Psychiatry;Jan1999, p93
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
No abstract available.
ACCESSION #
66699684

 

Related Articles

  • Clinical Features of Friedreich Ataxia. Delatycki, Martin B.; Corben, Louise A. // Journal of Child Neurology;Sep2012, Vol. 27 Issue 9, p1133 

    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 trinucleotide repeat expansion in intron 1 of FXN; in the other 2%, it is due to compound heterozygosity for a GAA...

  • Variations of frataxin protein levels in normal individuals. Boehm, Therese; Scheiber-Mojdehkar, Barbara; Kluge, Britta; Goldenberg, Hans; Laccone, Franco; Sturm, Brigitte // Neurological Sciences;Apr2011, Vol. 32 Issue 2, p327 

    Friedreich's ataxia (FRDA) is the most common of the inherited ataxias and is associated with GAA trinucleotide repeat expansions within the first intron of the frataxin (FXN) gene. There are expanded FXN alleles from 66 to 1,700 GAA·TTC repeats in FRDA patients and correlations between...

  • Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia. De Michele, Giuseppe; Cavalcanti, Francesca; Criscuolo, Chiara; Pianese, Luigi; Monticelli, Antonella; Filla, Alessandro; Cocozza, Sergio // Human Molecular Genetics;Nov98 Supplement, Vol. 7 Issue 12, p1901 

    Friedreich's ataxia is the first known autosomal recessive disease caused by an unstable trinucleotide expansion mutation. The most frequent mutation is expansion of a GAA repeat in the first intron of gene X25. We studied transmission of the expanded GAA repeat in 37 Friedreich's ataxia...

  • Parental Gender, Age at Birth and Expansion Length Influence GAA Repeat Intergenerational Instability in the X25 Gene: Pedigree Studies and Analysis of Sperm from Patients with Friedreich's Ataxia. De Michele, Giuseppe; Cavalcanti, Francesca; Criscuolo, Chiara; Pianese, Luigi; Monticelli, Antonella; Filla, Alessandro; Cocozza, Sergio // Human Molecular Genetics;1998, Vol. 7 Issue 12, p1901 

    Friedreich's ataxia is the first known autosomal recessive disease caused by an unstable trinucleotide expansion mutation. The most frequent mutation is expansion of a GAA repeat in the first intron of gene X25. We studied transmission of the expanded GAA repeat in 37 Friedreich's ataxia...

  • A Child With Friedreich's Ataxia and Epilepsy. Golomb, Merideth R.; Illner, Anna; Christensen, Celanie K.; Walsh, Laurence E. // Journal of Child Neurology;Mar2005, Vol. 20 Issue 3, p248 

    Epilepsy in Friedreich's ataxia is rare. We describe a 9-year-old boy with Friedreich's ataxia who had onset of symptoms in the second year of life and developed a generalized epilepsy at age 5 years. On cerebral magnetic resonance imaging, he has a subependymal gray-matter heterotopia We...

  • Friedreich's ataxia: the vicious circle hypothesis revisited.  // BMC Medicine;2011, Vol. 9 Issue 1, p112 

    The article presents information on Friedreich's ataxia, the most frequent progressive autosomal recessive disorder which affects the central and peripheral nervous systems. It is said that unstable expansion of GAA trinucleotide repeats in the first intron of the frataxin-encoding (FXN) gene is...

  • Genetic background of apparently idiopathic sporadic cerebellar ataxia. Schöls, Ludger; Szymanski, Sandra; Peters, Sören; Przuntek, Horst; Epplen, Jörg T.; Hardt, Cornelia; Riess, Olaf // Human Genetics;Aug2000, Vol. 107 Issue 2, p132 

    Disease-causing mutations have been identified in various entities of autosomal dominant ataxia and in Friedreich's ataxia. However, no molecular pathogenic factor is known to cause idiopathic cerebellar ataxias. We investigated the CAG/CTG trinucleotide repeats causing spinocerebellar ataxia...

  • Gene-based approaches toward Friedreich ataxia therapeutics. Hebert, M. D.; Whittom, A. A. // Cellular & Molecular Life Sciences;Dec2007, Vol. 64 Issue 23, p3034 

    Friedreich ataxia is an autosomal recessive trinucleotide-repeat disease caused by expanded GAA repeats in the first intron of the FRDA gene. These GAA repeats are suspected to form unusual non-B DNA conformations that decrease transcription and subsequently reduce levels of the encoded protein,...

  • Evaluation of the Cases with Friedreich Ataxia. Kurul, Semra Hız; Yiş, Uluç; Güzel, Ali İrfan; Kasap, Halil; Başak, Nazlı; Dirik, Eray // Gulhane Medical Journal;Jun2013, Vol. 55 Issue 2, p123 

    Friedreich ataxia is an autosomal recessive neurodegenerative disease, which is the most common cause of inherited ataxias. About 95% of the patients demonstrate an expansion of a GAA trinucleotide repeat in intron 1 of the FRDA gene on chromosome 9q13. This leads to reduced levels of frataxin...

  • Progressive GAA·TTC Repeat Expansion in Human Cell Lines. Ditch, Scott; Sammarco, Mimi C.; Banerjee, Ayan; Grabczyk, Ed // PLoS Genetics;Oct2009, Vol. 5 Issue 10, p1 

    Trinucleotide repeat expansion is the genetic basis for a sizeable group of inherited neurological and neuromuscular disorders. Friedreich ataxia (FRDA) is a relentlessly progressive neurodegenerative disorder caused by GAA·TTC repeat expansion in the first intron of the FXN gene. The...

Share

Read the Article

Courtesy of THE LIBRARY OF VIRGINIA

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics