Journal article
New hypothesis for the etiology of SPAST-based hereditary spastic paraplegia
Cytoskeleton (Hoboken, N.J.), v 76(4)
01 Apr 2019
PMID: 31108029
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Mutations of the SPAST gene are the chief cause of hereditary spastic paraplegia. Controversy exists in the medical community as to whether the etiology of the disease is haploinsufficiency or toxic gain-of-function properties of the mutant spastin proteins. In recognition of strong reasons that support each possible mechanism, here we present a novel perspective, based in part on new studies with mouse models and in part on the largest study to date on patients with the disease. We posit that haploinsufficiency does not cause the disease but makes the corticospinal tracts vulnerable to a second hit, which is usually the mutant spastin proteins but could also be proteins generated by mutations of other genes that may or may not cause the disease on their own.
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Details
- Title
- New hypothesis for the etiology of SPAST-based hereditary spastic paraplegia
- Creators
- Liang Qiang - Drexel UniversityEmanuela Piermarini - Drexel UniversityPeter W. Baas - Drexel University
- Publication Details
- Cytoskeleton (Hoboken, N.J.), v 76(4)
- Publisher
- Wiley
- Number of pages
- 9
- Grant note
- R01NS028785 / NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Neurological Disorders & Stroke (NINDS) Spastic Paraplegia Foundation Tom Wahlig Foundation NS28785 / National Institute of Neurological Disorders and Stroke; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Neurological Disorders & Stroke (NINDS)
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Neurobiology and Anatomy
- Web of Science ID
- WOS:000475813100001
- Scopus ID
- 2-s2.0-85068536743
- Other Identifier
- 991019168364504721
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- Cell Biology