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
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)
Optic Atrophies, Hereditary
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.
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