Abstract:
:Fucosidosis, a progressive neurodegenerative disease, evident in early childhood, is associated with progressive loss of mental and motor function and increasing spasticity and hyperreflexia. We report a Canadian male, with clinical features similar to previously reported fucosidosis patients, however, since age 5 he has exhibited progressive dystonic posturing, initially unilateral, but recently involving both lower limbs. Extensive study of his cultured lymphoblasts demonstrated that alpha-fucosidase activity and immunoreactive alpha-fucosidase protein were absent. He is homozygous for the Q422X mutation, a C to T transition within exon 8 of the alpha-fucosidase gene which results in loss of an EcoR1 restriction enzyme cut site. Even among the 4 other reported fucosidosis families having one or more individuals homozygous for this same (Q422X) mutation there was no previous report of dystonia.
journal_name
Neuropediatricsjournal_title
Neuropediatricsauthors
Gordon BA,Gordon KE,Seo HC,Yang M,DiCioccio RA,O'Brien JSdoi
10.1055/s-2007-979784subject
Has Abstractpub_date
1995-12-01 00:00:00pages
325-7issue
6eissn
0174-304Xissn
1439-1899journal_volume
26pub_type
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