Clinical features of Friedreich's ataxia: classical and atypical phenotypes
MH Parkinson, S Boesch, W Nachbauer… - Journal of …, 2013 - Wiley Online Library
One hundred and fifty years since Nikolaus Friedreich's first description of the degenerative
ataxic syndrome which bears his name, his description remains at the core of the classical …
ataxic syndrome which bears his name, his description remains at the core of the classical …
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 …
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes
Friedreich's ataxia is the most common inherited ataxia. Ninety‐six percent of patients are
homozygous for GAA trinucleotide repeat expansions in the first intron of the frataxin gene …
homozygous for GAA trinucleotide repeat expansions in the first intron of the frataxin gene …
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 …
common inherited ataxia. The vast majority of patients are homozygous for an abnormal …
Sticky DNA: self-association properties of long GAA· TTC repeats in R· R· Y triplex structures from Friedreich's ataxia
N Sakamoto, PD Chastain, P Parniewski, K Ohshima… - Molecular cell, 1999 - cell.com
A novel DNA structure, sticky DNA, is described for lengths of (GAA· TTC) n found in intron 1
of the frataxin gene of Friedreich's ataxia patients. Sticky DNA is formed by the association of …
of the frataxin gene of Friedreich's ataxia patients. Sticky DNA is formed by the association of …
Diagnosis and treatment of Friedreich ataxia: a European perspective
JB Schulz, S Boesch, K Bürk, A Dürr, P Giunti… - Nature Reviews …, 2009 - nature.com
Friedreich ataxia is the most frequent hereditary ataxia, with an estimated prevalence of 3–4
cases per 100,000 individuals. This autosomal-recessive neurodegenerative disease is …
cases per 100,000 individuals. This autosomal-recessive neurodegenerative disease is …
Oxidative stress in patients with Friedreich ataxia
JB Schulz, T Dehmer, L Schols, H Mende, C Hardt… - Neurology, 2000 - AAN Enterprises
Article abstract Increased generation of reactive oxygen species may underlie the
pathophysiology of Friedreich ataxia (FRDA). The authors measured concentrations of 8 …
pathophysiology of Friedreich ataxia (FRDA). The authors measured concentrations of 8 …
Consensus paper: management of degenerative cerebellar disorders
Abstract Treatment of motor symptoms of degenerative cerebellar ataxia remains difficult.
Yet there are recent developments that are likely to lead to significant improvements in the …
Yet there are recent developments that are likely to lead to significant improvements in the …
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum
M Synofzik, AS Soehn, J Gburek-Augustat… - Orphanet journal of rare …, 2013 - Springer
Background Mutations in SACS, leading to autosomal-recessive spastic ataxia of Charlevoix-
Saguenay (ARSACS), have been identified as a frequent cause of recessive early-onset …
Saguenay (ARSACS), have been identified as a frequent cause of recessive early-onset …
The aetiology of sporadic adult‐onset ataxia
M Abele, K Bürk, L Schöls, S Schwartz, I Besenthal… - Brain, 2002 - academic.oup.com
The nosology and aetiology of sporadic adult‐onset ataxia are poorly understood. The aim
of the present study was to answer the following questions:(i) How many sporadic ataxia …
of the present study was to answer the following questions:(i) How many sporadic ataxia …