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The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment.
Meyyazhagan A, Kuchi Bhotla H, Pappuswamy M, Orlacchio A. Meyyazhagan A, et al. Int J Mol Sci. 2022 Jul 11;23(14):7665. doi: 10.3390/ijms23147665. Int J Mol Sci. 2022. PMID: 35887006 Free PMC article. Review.
Inherited neurodegenerative pathology characterized by lower muscle tone and increasing spasticity in the lower limbs is termed hereditary spastic paraplegia (HSP). HSP is associated with changes in about 80 genes and their products involved in various bioche …
Inherited neurodegenerative pathology characterized by lower muscle tone and increasing spasticity in the lower limbs is termed hereditary …
Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group.
Fink JK, Heiman-Patterson T, Bird T, Cambi F, Dubé MP, Figlewicz DA, Fink JK, Haines JL, Heiman-Patterson T, Hentati A, Pericak-Vance MA, Raskind W, Rouleau GA, Siddique T. Fink JK, et al. Neurology. 1996 Jun;46(6):1507-14. doi: 10.1212/wnl.46.6.1507. Neurology. 1996. PMID: 8649538 Review.
Hereditary spastic paraplegia (HSP) is a diverse group of inherited disorders characterized by progressive lower-extremity spasticity and weakness. ...A locus for autosomal recessive HSP is on chromosome 8q. Loci for autosomal dominant HSP have …
Hereditary spastic paraplegia (HSP) is a diverse group of inherited disorders characterized by progressive lower-extremity spa …
The distal hereditary motor neuropathies.
Rossor AM, Kalmar B, Greensmith L, Reilly MM. Rossor AM, et al. J Neurol Neurosurg Psychiatry. 2012 Jan;83(1):6-14. doi: 10.1136/jnnp-2011-300952. Epub 2011 Oct 25. J Neurol Neurosurg Psychiatry. 2012. PMID: 22028385 Review.
Many forms of dHMN have minor sensory abnormalities and/or a significant upper-motor-neuron component, and there is often an overlap with the axonal forms of Charcot-Marie-Tooth disease (CMT2) and with juvenile forms of amyotrophic lateral sclerosis and hereditary spastic …
Many forms of dHMN have minor sensory abnormalities and/or a significant upper-motor-neuron component, and there is often an overlap with th …
A Dutch family with autosomal dominant pure spastic paraparesis (Strumpell's disease).
Scheltens P, Bruyn RP, Hazenberg GJ. Scheltens P, et al. Acta Neurol Scand. 1990 Sep;82(3):169-73. doi: 10.1111/j.1600-0404.1990.tb04484.x. Acta Neurol Scand. 1990. PMID: 2270744 Review.
We present a Dutch family with "pure" hereditary spastic paraparesis, involving 15 affected members in three generations. The mode of inheritance was autosomal dominant, with onset of clinical signs in the fourth or fifth decade. ...
We present a Dutch family with "pure" hereditary spastic paraparesis, involving 15 affected members in three generations. The mode of …