Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia
Conclusions:
Patients with late infantile metachromatic leukodystrophy exhibited a rapid and devastating clinical course. The pattern of dysmyelination on brain MRI together with peripheral demyelination polyneuropathy indicates that evaluation of ARSA activity in leukocytes is warranted. A wide diversity of ARSA gene mutations was noted in Asia.
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Hsiang-Ru LiawHsiu-Fen LeeChing-Shiang ChiChi-Ren Tsai Source Type: research
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