| Literature DB >> 23820084 |
Z Jamrozik1, A Lugowska, M Gołębiowski, L Królicki, J Mączewska, M Kuźma-Kozakiewicz.
Abstract
A case of late onset GM2 gangliosidodis with spinal muscular atrophy phenotype followed by cerebellar and extrapyramidal symptoms is presented. Genetic analysis revealed compound heterozygous mutation in exon 10 of the HEXA gene. Patient has normal intelligence and emotional reactivity. Neuroimaging tests of the brain showed only cerebellar atrophy consistent with MR spectroscopy (MRS) abnormalities. (18)F-fluorodeoxyglucose positron emission tomography (18)F-FDG PET/CT of the brain revealed glucose hypometabolism in cerebellum and in temporal and occipital lobes bilaterally.Entities:
Keywords: (18)F-FDG PET CT; (18)F-fluorodeoxyglucose positron emission tomography; ALS; FDG-PET; GM2 gangliosidoses; GM2 gangliosidosis type 0; GM2 gangliosidosis type B; GM2-0; GM2-B; GM2G; HEXA gene; Hex A; Hex B; LOGM2; Late onset GM2 ganglisidosis; MLPA; MND; MRI; MRS; MRS (SVS); Motor neuron disease; NAA/Cr; SMA; Spinal muscular atrophy; TE; TSD; TSE; Tay–Sachs disease; amyotrophic lateral sclerosis; fluorodeoxyglucose positron emission tomography; hexosaminidase A; hexosaminidase B; late-onset or chronic GM2 gangliosidoses; mI/Cr; magnetic resonance imaging; magnetic resonance spectroscopy; magnetic resonance spectroscopy single voxel; motor neuron disease; multiplex ligation-dependent probe amplification; myo-inositol/creatine; ratio of the N-acetylaspartate/creatine; spinal muscular atrophy; time echo; time spin echo
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Year: 2013 PMID： 23820084 DOI： 10.1016/j.gene.2013.06.030
Source DB: PubMed Journal: Gene ISSN： 0378-1119 Impact factor: 3.688