ArticleMuscle & nerve2017
Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar-onset neuropathy.
Article in Muscle & nerve, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 9 citations in OpenAlex.
- Gelsolin variant amyloidosis mimicking progressive bulbar palsy.Muscle & nerve · 2022Article
- Clinical Features and Brain MRI Findings in Korean Patients with AGel Amyloidosis.Yonsei medical journal · 2021Article
- Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study.Orphanet journal of rare diseases · 2020Article
- Analyses Mutations inFrontiers in aging neuroscience · 2020Article
- Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families.European journal of human genetics : EJHG · 2018Article
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Authors and funding
8 authors at 5 institutions in 3 countries.
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Abstract
introductionProgressive bulbar motor neuropathy is primarily caused by bulbar-onset ALS. Hereditary amyloidosis type IV also presents with a bulbar neuropathy that mimics motor neuron disease. The disease is prevalent in Finland only and is not commonly included in the differential diagnosis of ALS.
methodsWe studied 18 members of a family in which some had bulbar motor neuropathy, and we performed exome sequencing.
resultsFive affected family members were found to have a D187Y substitution in the GSN gene known to cause hereditary amyloidosis type IV.
conclusionsThis American family presented with progressive bulbar neuropathy due to a gelsolin mutation not found in Finland. Hereditary amyloidosis type IV presents with bulbar motor neuropathy and not with peripheral neuropathy as occurs with common forms of amyloidosis. This report demonstrates the power of exome sequencing to determine the cause of rare hereditary diseases with incomplete or atypical phenotypes. Muscle Nerve 56: 1001-1005, 2017.
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