MR spectroscopy and atrophy in Gluten, Friedreich's and SCA6 ataxias.
Summary of "MR spectroscopy and atrophy in Gluten, Friedreich's and SCA6 ataxias."
Hadjivassiliou M, Wallis LI, Hoggard N, Grünewald RA, Griffiths PD, Wilkinson ID. MR spectroscopy and atrophy in Gluten, Friedreich's and SCA6 ataxias. Acta Neurol Scand:
10.1111/j.1600-0404.2011.01620.x. © 2011 John Wiley & Sons A/S. Background - Previous work using proton MR spectroscopy ((1) H-MRS) of the cerebellum in the ataxias suggested that (1) H-MRS abnormalities and atrophy do not necessarily occur concurrently. Aims - To investigate the spectroscopic features of different types of ataxias. Methods - Using a clinical MR system operating at 1.5T, we performed (1) H-MRS with a single voxel placed over the right dentate nucleus in 22 patients with gluten ataxia (GA), six patients with Friedreich's ataxia (FA), six patients with spinocerebellar ataxia type 6 (SCA6) and 21 healthy volunteers. Atrophy of the vermis and hemispheres on standard MRI was rated by a neuroradiologist. Any interaction between atrophy and (1) H-MRS was analysed for the three groups of patients and controls. Results - Patients with GA had significant atrophy of the vermis and hemispheres as well as abnormal (1) H-MRS. Patients with SCA6 had more severe overall atrophy of the vermis and hemispheres, but relatively preserved N-acetyl-aspartate/creatine (NAA/Cr). The FA group showed significant atrophy of only the superior vermis with normal (1) H-MRS. Conclusions - This study suggests that (1) H-MRS of the cerebellum in patients with ataxia provides information in addition to the presence of atrophy. There are significant (1) H-MRS differences amongst different types of ataxia with interesting correlations between atrophy and NAA/Cr.
Department of Neurology, Royal Hallamshire Hospital, Sheffield, UK Department of Academic Neuroradiology, Royal Hallamshire Hospital, Sheffield, UK.
This article was published in the following journal.
Name: Acta neurologica Scandinavica
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/22070551
- DOI: http://dx.doi.org/10.1111/j.1600-0404.2011.01620.x
This review broadly covers the commoner genetic ataxias, concentrating on their clinical features. Over the last two decades there has been a potentially bewildering profusion of newly described genet...
Celiac disease is a chronic small intestinal immune-mediated enteropathy precipitated by exposure to dietary gluten in genetically predisposed individuals and represents a major health issue. The immu...
Gluten is the main storage protein in grains and consists of gliadin and glutenin occurring in the same ratio. Persons suffering from intolerances, including celiac disease, must avoid foods containin...
Autosomal recessive ataxias affect about 1 person in 20,000. Friedreich ataxia accounts for one-third of the cases in Caucasians; the others are due to a growing list of very rare molecular defects, i...
Gluten ataxia, a type of cerebellar ataxia caused by exposure to gluten in sensitive patients, has been considered common in the USA and Europe, and rare in Asia. We measured anti-deamidated gliadin p...
The purpose of this study is to determine if varenicline is effective in treating symptoms of Friedreich's ataxia.
The primary purpose of the study is to determine whether carbamylated erythropoietin is a safe treatment for patients who suffer from Friedreich's Ataxia.
The purpose of this study is to evaluate the toxicity of minute doses of gluten in the treatment of celiac disease, a disorder characterized by permanent intolerance to dietary gluten.
Friedreich's ataxia is a rare genetic disorder characterized by severe neurological disability and cardiomyopathy. Friedreich's ataxia is the consequence of frataxin deficiency. Although s...
The purpose of this protocol is to determine the efficacy of EGb 761 120 mg bid versus placebo in patients suffering from Friedreich Ataxia
Medical and Biotech [MESH] Definitions
A diet which is devoid of GLUTENS from WHEAT; BARLEY; RYE; and other wheat-related varieties. The diet is designed to reduce exposure to those proteins in gluten that trigger INFLAMMATION of the small intestinal mucosa in patients with CELIAC DISEASE.
A group of dominantly inherited, predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)
Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy (OPTIC ATROPHY, AUTOSOMAL DOMINANT) and Leber hereditary optic atrophy (OPTIC ATROPHY, HEREDITARY, LEBER).
An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)
Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood.