PMC:4385177 / 14533-15761 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4385177","sourcedb":"PMC","sourceid":"4385177","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4385177","text":"We established contact with the individual whose DNA sample harbored the compound-heterozygous mutations in HPCA—a 64 year-old woman of Sri Lankan origin—to verify the medical and family history and perform a full neurological examination. She reported that the onset of dystonia was in her early twenties, possibly even her late teens. It initially manifested with abnormal involuntary finger movements that were most noticeable when she tried to type. Over time, her dystonia very gradually worsened: a tremulous component emerged, but the dystonia remained segmental, such that it affected only the hands, arms, and muscles of the neck, and would be classified clinically as mild. Despite the fact that she is one of seven siblings, no other family member, including her parents, siblings, and her siblings’ children, reported or were reported to have any symptoms consistent with dystonia, and this was confirmed by clinical examination where possible (Figure 1B). Segregation analysis in the four surviving siblings demonstrated that the remaining unaffected siblings possessed either one or both wild-type alleles (Figure 1B), supporting the pathogenicity of the compound-heterozygous mutations in the affected individual.","tracks":[]}