Journal article
Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln)
Case reports in genetics, Vol.2015, pp.496053-496053
2015
DOI: 10.1155/2015/496053
PMCID: PMC4620279
PMID: 26543653
Abstract
Introduction
. Hereditary Spastic Paraplegia (HSP) is a rare hereditary disorder that primarily involves progressive spasticity of the legs (hamstrings, quadriceps, and calves).
Methods
. A 27-year-old gentleman was a fast runner and able to play soccer until age 9 when he developed slowly progressive weakness. He was wheelchair-bound by age 25. He was evaluated by laboratory testing, imaging, electrodiagnostics, and molecular genetics.
Results
. Electrodiagnostic testing revealed an axonal sensorimotor polyneuropathy. Genetic testing for HSP in 2003 was negative; repeat testing in 2013 revealed a mutation in KIF5A (c.611G>A;p.Arg204Gln).
Conclusions
. A recent advance in neurogenetics has allowed for more genes and mutations to be identified; over 76 different genetic loci for HSP and 59 gene products are currently known. Even though our patient had a sensorimotor polyneuropathy on electrodiagnostic testing and a 2003 HSP genetic panel that was negative, a repeat HSP genetic panel was performed in 2013 due to the advancement in neurogenetics. This revealed a mutation in
KIF5A
.
Details
- Title: Subtitle
- Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln)
- Creators
- Nivedita U Jerath - Department of Neurology, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USATiffany Grider - Department of Neurology, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USAMichael E Shy - Department of Neurology, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA
- Resource Type
- Journal article
- Publication Details
- Case reports in genetics, Vol.2015, pp.496053-496053
- DOI
- 10.1155/2015/496053
- PMID
- 26543653
- PMCID
- PMC4620279
- NLM abbreviation
- Case Rep Genet
- ISSN
- 2090-6544
- eISSN
- 2090-6552
- Publisher
- Hindawi Publishing Corporation
- Grant note
- DOI: 10.13039/100000065, name: National Institute of Neurological Disorders and Stroke, award: U54NS065712
- Language
- English
- Date published
- 2015
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984072072702771
Metrics
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