Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview
- PMID: 20301682
- Bookshelf ID: NBK1509
Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview
Excerpt
The purpose of this overview is to:
- 1
Briefly describe the clinical characteristics of uncomplicated (pure) hereditary spastic paraplegia;
- 2
Review the genetic causes of uncomplicated hereditary spastic paraplegia;
- 3
Review the differential diagnosis of uncomplicated hereditary spastic paraplegia, which includes complicated hereditary spastic paraplegia with a focus on treatable genetic disorders;
- 4
Provide an evaluation strategy to identify the genetic cause of uncomplicated hereditary spastic paraplegia in a proband (when possible);
- 5
Review management of uncomplicated hereditary spastic paraplegia;
- 6
Inform genetic counseling of family members of an individual with uncomplicated hereditary spastic paraplegia.
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Sections
- Summary
- 1. Clinical Characteristics of Uncomplicated Hereditary Spastic Paraplegia
- 2. Causes of Uncomplicated Hereditary Spastic Paraplegia
- 3. Differential Diagnosis of Uncomplicated Hereditary Spastic Paraplegia
- 4. Evaluation Strategies to Identify the Genetic Cause of Uncomplicated Hereditary Spastic Paraplegia in a Proband
- 5. Management
- 6. Genetic Counseling
- Resources
- Chapter Notes
- References
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References
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- Aulitzky A, Friedrich K, Gläser D, Gastl R, Kubisch C, Ludolph AC, Volk AE. A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother. J Neurol Sci. 2014;347:352-5. - PubMed
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- Crow YJ, Zaki MS, Abdel-Hamid MS, Abdel-Salam G, Boespflug-Tanguy O, Cordeiro NJ, Gleeson JG, Gowrinathan NR, Laugel V, Renaldo F, Rodriguez D, Livingston JH, Rice GI. Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. Neuropediatrics. 2014;45:386-93. - PubMed
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