We present the case of a male in his mid-30s with a progressive complex neurological phenotype primarily characterised by levodopa-responsive parkinsonism with motor fluctuations as well as gait ...
A 21 year-old woman presented with slowly progressive gait and limb ataxia, scanning speech and nystagmus since early childhood. Spinocerebellar Ataxia (SCA): Axial CT scans. Note the severe atrophy ...
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Ataxia-telangiectasia is an autosomal recessive disorder caused by a defect in the ATM gene mapped to chromosome 11q22.3. The ATM gene product is involved in the detection of damaged DNA and plays a ...
Phase 3 trial results show levacetylleucine improves SARA scores in patients with the rare disorder ataxia-telangiectasia.
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