WordNet

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion.

Rattay TW1, Schöls L, Wilhelm C, Synofzik M.
Amyotrophic lateral sclerosis & frontotemporal degeneration.Amyotroph Lateral Scler Frontotemporal Degener.2013 Dec;14(7-8):628-9. doi: 10.3109/21678421.2013.812662. Epub 2013 Jul 25.
PMID 23886397

Adult Sandhoff disease with 2 mutations in the HEXB gene presenting as brachial amyotrophic diplegia.

Kang SY1, Song SK, Lee JS, Choi JC, Kang JH.
Journal of clinical neuromuscular disease.J Clin Neuromuscul Dis.2013 Dec;15(2):47-51. doi: 10.1097/CND.0000000000000014.
Sandhoff disease is a rare autosomal recessive metabolic disorder of GM2 gangliosides. It is caused by a lack of functional N-acetyl-β-D-glucosaminidase A and B because of mutations in the HEXB gene. We describe a 55-year-old woman with adult Sandhoff disease presenting as brachial amyotrophic dipl
PMID 24263030

Jamrozik Z1, Lugowska A, Gołębiowski M, Królicki L, Mączewska J, Kuźma-Kozakiewicz M.
Gene.Gene.2013 Sep 25;527(2):679-82. doi: 10.1016/j.gene.2013.06.030. Epub 2013 Jun 29.
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
PMID 23820084