A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations.

ABSTRACT:

Background

SLC19A3 (solute carrier family 19, member 3) is a thiamin transporter with 12 transmembrane domains. Homozygous or compound heterozygous mutations in SLC19A3 cause two distinct clinical phenotypes, biotin-responsive basal ganglia disease and Wernicke's-like encephalopathy. Biotin and/or thiamin are effective therapies for both diseases.

Methods

We conducted on the detailed clinical, brain MRI and molecular genetic analysis of four Japanese patients in a Japanese pedigree who presented with epileptic spasms in early infancy, severe psychomotor retardation, and characteristic brain MRI findings of progressive brain atrophy and bilateral thalami and basal ganglia lesions.

Results

Genome-wide linkage analysis revealed a disease locus at chromosome 2q35-37, whic

SUBMITTER: Yamada K 

PROVIDER: S-EPMC3022826 | biostudies-literature | 2010 Dec

REPOSITORIES: biostudies-literature