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Hereditary spastic paraplegia: Genetic heterogeneity and common pathways.
Panza E, Meyyazhagan A, Orlacchio A. Panza E, et al. Exp Neurol. 2022 Nov;357:114203. doi: 10.1016/j.expneurol.2022.114203. Epub 2022 Aug 13. Exp Neurol. 2022. PMID: 35970204 Review.
Hereditary Spastic Paraplegias (HSPs) are a heterogeneous group of disease, mainly characterized by progressive spasticity and weakness of the lower limbs resulting from distal degeneration of corticospinal tract axons. ...Notwithstanding the number of forms describ …
Hereditary Spastic Paraplegias (HSPs) are a heterogeneous group of disease, mainly characterized by progressive spasticity and …
Pelizaeus-Merzbacher disease.
Koeppen AH, Robitaille Y. Koeppen AH, et al. J Neuropathol Exp Neurol. 2002 Sep;61(9):747-59. doi: 10.1093/jnen/61.9.747. J Neuropathol Exp Neurol. 2002. PMID: 12230321 Review.
The clinical spectrum ranges from severe neonatal cases to relatively benign adult forms and X-linked recessive spastic paraplegia type 2. The lack of PLP is accompanied by deficits in the other myelin proteins of the central nervous system, including myelin basic p …
The clinical spectrum ranges from severe neonatal cases to relatively benign adult forms and X-linked recessive spastic paraplegia …
Carnitine palmitoyltransferase 1C: From cognition to cancer.
Casals N, Zammit V, Herrero L, Fadó R, Rodríguez-Rodríguez R, Serra D. Casals N, et al. Prog Lipid Res. 2016 Jan;61:134-48. doi: 10.1016/j.plipres.2015.11.004. Epub 2015 Dec 18. Prog Lipid Res. 2016. PMID: 26708865 Free article. Review.
The first disease-causing CPT1C mutation was recently described in humans, with Cpt1c being identified as the gene causing hereditary spastic paraplegia. The putative role of CPT1C in the regulation of complex-lipid metabolism is supported by the observation …
The first disease-causing CPT1C mutation was recently described in humans, with Cpt1c being identified as the gene causing hereditary …