V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I
Joint Authors
Jerath, Nivedita U.
Ho, Kwo Wei David
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-10-18
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
Hereditary sensory and autonomic neuropathy type I (HSAN I) is an autosomal dominant disease characterized by distal sensory loss, pain insensitivity, and autonomic disturbances.
The major underlying causes of HSAN I are point mutations in the SPTLC1 gene.
Patients with mutations in the SPTLC1 genes typically exhibit dense sensory loss and incidence of lancinating pain.
Although most of these mutations produce sensory loss, it is unclear which mutations would lead to the painful phenotype.
In this case series, we report that the V144D mutation in SPTLC1 gene may relate to both painful and painless peripheral neuropathies.
The unique clinical phenotype of this mutation may guide clinical workup and treatment for patients with painful and painless neuropathies.
American Psychological Association (APA)
Ho, Kwo Wei David& Jerath, Nivedita U.. 2018. V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I. Case Reports in Genetics،Vol. 2018, no. 2018, pp.1-3.
https://search.emarefa.net/detail/BIM-1143293
Modern Language Association (MLA)
Ho, Kwo Wei David& Jerath, Nivedita U.. V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I. Case Reports in Genetics No. 2018 (2018), pp.1-3.
https://search.emarefa.net/detail/BIM-1143293
American Medical Association (AMA)
Ho, Kwo Wei David& Jerath, Nivedita U.. V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I. Case Reports in Genetics. 2018. Vol. 2018, no. 2018, pp.1-3.
https://search.emarefa.net/detail/BIM-1143293
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1143293