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Background:Restless legs syndrome (RLS) has a high familial aggregation. To date, several loci and genetic risk factors have been identified, but no causative gene mutation has been found.
Methods:We evaluated a German family with autosomal dominantly inherited RLS in 7 definitely and 2 possibly affected members by genome‐wide linkage analysis and exome sequencing.
Results:We identified three novel...
Autosomal dominant spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders. We investigated an SCA family from Serbia of Roma ethnic origin; four affected and nine unaffected family members underwent a detailed neurological examination. The presenting symptom in all patients was gait unsteadiness in early adulthood. Additional features included...
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