Hereditary Spastic Paraplegia Research Articles

The hereditary spastic paraplegias are a large group of clinically similar disorders. Seventeen different HSP loci have been discovered thus far. Different genetic forms of uncomplicated HSP are clinically very similar. Except for the average age at which symptoms appear, different genetic types of uncomplicated HSP cannot be distinguished reliably by clinical parameters alone. For most subjects, HSP is a diagnosis of exclusion. The differential diagnosis includes treatable disorders as well as those for which the prognosis is quite different from HSP. Even with the emerging availability of laboratory testing for HSP gene mutations, it is still essential that alternative disorders be excluded by careful history, examination, laboratory studies, neuroimaging, and neurophysiologic evaluation. Uncomplicated HSP is due to axonal degeneration at the ends of the longest motor (corticospinal tract) and sensory (dorsal column fibers) in the spinal cord. The observation that some forms begin in childhood and are essentially nonprogressive while other forms begin in adulthood and are slowly progressive raises the possibility that some forms of HSP (e.g.; those associated with LICAM gene mutations and possibly those due to SPG3A mutations) are neurodevelopmental disorders; and other forms are truly neurodegenerative disorders. The mechanisms by which spastin, atlastin, and paraplegin mutations cause axonal degeneration that results in clinically similar forms of HSP are not known. Nonetheless, the identification of these genes and the ability to generate animal models of these forms of HSP will permit direct exploration of the molecular basis of HSP.

High Impact List of Articles

Conference Proceedings

Tiny droplets to detect cancer biomarkers
Taly Valerie
Scientific Tracks Abstracts: Journal of Molecular Biomarkers & Diagnosis
Tiny droplets to detect cancer biomarkers
Taly Valerie
Scientific Tracks Abstracts: Molecular Biomarkers & Diagnosis
Deciphering the role of substrate stiffness on stem cell transfection using lipid-based nanocarriers to deliver angiogenic genes
Saman Modaresi, Settimio Pacelli, Jonathan Whitlow and Arghya Paul
Scientific Tracks Abstracts: Journal of Tissue Science and Engineering
Deciphering the role of substrate stiffness on stem cell transfection using lipid-based nanocarriers to deliver angiogenic genes
Saman Modaresi, Settimio Pacelli, Jonathan Whitlow and Arghya Paul
Scientific Tracks Abstracts: Journal of Tissue Science and Engineering
Effect of SERCA gene modified stem cells on functional recovery of diabetic cardiomyopathy
L A Kassem, Y Safwat, N A Yassin, M A Gamal El Din, M S Fadel, M B Zekri, S G Abo Elfadl and M I Khairallah
Posters & Accepted Abstracts: Journal of Tissue Science and Engineering
Effect of SERCA gene modified stem cells on functional recovery of diabetic cardiomyopathy
L A Kassem, Y Safwat, N A Yassin, M A Gamal El Din, M S Fadel, M B Zekri, S G Abo Elfadl and M I Khairallah
Posters & Accepted Abstracts: Journal of Tissue Science and Engineering
Association of plasma and mid-brain metabolites with 6-OHDA induced in vivo Parkinsonism
Anuri Shah, Pei Han, Raymond Cheun-Chung Chang and Cristina Legido-Quigley
Posters & Accepted Abstracts: Metabolomics:Open Access
Association of plasma and mid-brain metabolites with 6-OHDA induced in vivo Parkinsonism
Anuri Shah, Pei Han, Raymond Cheun-Chung Chang and Cristina Legido-Quigley
Posters & Accepted Abstracts: Metabolomics:Open Access
High performance mass spectrometry in the differential metabolomic analysis-speed, accuracy and resolution in many flavors
Jeffrey S Patrick
Keynote Forum Day 2: Metabolomics:Open Access
High performance mass spectrometry in the differential metabolomic analysis-speed, accuracy and resolution in many flavors
Jeffrey S Patrick
Keynote Forum Day 2: Metabolomics:Open Access

Human Genetics & Embryology