期刊
NEUROLOGY
卷 82, 期 12, 页码 1065-1067出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.0000000000000254
关键词
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资金
- Wellcome Trust/Medical Research Council (MRC) Joint Call in Neurodegeneration award [WT089698]
- Department of Health's NIHR Biomedical Research Centre's funding scheme
- Medical Research Council [G1100479, MC_G1000735] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0513-10064, NF-SI-0507-10376] Funding Source: researchfish
- MRC [G1100479, MC_G1000735] Funding Source: UKRI
Objective:To determine the genetic etiology in 2 consanguineous families who presented a novel phenotype of autosomal recessive juvenile amyotrophic lateral sclerosis associated with generalized dystonia.Methods:A combination of homozygosity mapping and whole-exome sequencing in the first family and Sanger sequencing of candidate genes in the second family were used.Results:Both families were found to have homozygous loss-of-function mutations in the amyotrophic lateral sclerosis 2 (juvenile) (ALS2) gene.Conclusions:We report generalized dystonia and cerebellar signs in association with ALS2-related disease. We suggest that the ALS2 gene should be screened for mutations in patients who present with a similar phenotype.
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