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
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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- Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F, Durand CM, Depienne C, Calvas P, Coutinho P, Saudubray JM, Rouleau G, Brice A, Nicholson G, Darios F, Loureiro JL, Zuchner S, Ottolenghi C, Mochel F, Stevanin G. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain 2015;138:2191–205. - PMC - 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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