Track topics on Twitter Track topics that are important to you
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
Although the diagnosis of inherited ataxias is ultimately genetic, this usually means an extensive and expensive process. This justifies the search for distinct clinical signs that may potentially hel...
There are myriad reasons why individuals choose to follow a gluten-free diet, which continues to be a pervasive nutrition trend. This commentary includes a discussion of the most common reasons that p...
Friedreich's ataxia is a devastating neurological disease currently lacking any proven treatment. We studied the neuro-protective effects of the cytokines granulocyte-colony stimulating factor and ste...
The role of gluten as a trigger of symptoms in non-coeliac gluten sensitivity has been questioned.
Globulin, albumin, gluten, and gliadin in oat bran were prepared by the Osborn method using oat bran as starting material. We characterized the secondary and tertiary structures of 4 proteins using ci...
Friedreich ataxia (FRDA) is a progressive neurodegenerative disease of children and adults for which there is presently no therapy. Recently, a study reported that interferon gamma (IFN-g)...
The purpose of this study is to develope a novel method to determine gluten intake and to check gluten-free diet adherence in celiac patients by detection of gluten immunogenic peptides in...
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.
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...
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.
Acne Dermatology Eczema Psoriasis Wound Care Dermatology is the medical specialty concerned with the diagnosis and treatment of skin disorders (Oxford Medical Dictionary). As well as studying how the skin works, dermatology covers...
Within medicine, nutrition (the study of food and the effect of its components on the body) has many different roles. Appropriate nutrition can help prevent certain diseases, or treat others. In critically ill patients, artificial feeding by tubes need t...