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Quoted phrase not found in phrase index: "Spastic paraplegia 81, autosomal recessive"
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Movement disorders in hereditary spastic paraplegias.
Pedroso JL, Vale TC, Freitas JL, Araújo FMM, Meira AT, Neto PB, França MC Junior, Tumas V, Teive HAG, Barsottini OGP. Pedroso JL, et al. Arq Neuropsiquiatr. 2023 Nov;81(11):1000-1007. doi: 10.1055/s-0043-1777005. Epub 2023 Nov 30. Arq Neuropsiquiatr. 2023. PMID: 38035585 Free PMC article. Review.
Myoclonus is rarely described in SPG, affecting patients with SPG4, SPG7, SPG35, SPG48, and SPOAN (spastic paraplegia, optic atrophy, and neuropathy). SPG4, SPG6, SPG10, SPG27, SPG30 and SPG31 may rarely present with ataxia with cerebellar atrophy. And autosomal …
Myoclonus is rarely described in SPG, affecting patients with SPG4, SPG7, SPG35, SPG48, and SPOAN (spastic paraplegia, optic a …
Diffusion tensor imaging in SPG11- and SPG4-linked hereditary spastic paraplegia.
Garaci F, Toschi N, Lanzafame S, Meschini A, Bertini E, Simonetti G, Santorelli FM, Guerrisi M, Floris R. Garaci F, et al. Int J Neurosci. 2014 Apr;124(4):261-70. doi: 10.3109/00207454.2013.836705. Epub 2013 Sep 27. Int J Neurosci. 2014. PMID: 23968121
The aim of this study was to identify potential diagnostic markers of Hereditary Spastic Paraplegia (HSP). We investigated the white matter features of spastic gait (SPG)11- and SPG4-linked HSP, using diffusion tensor imaging performed with a 3-Tesla (3T) sca …
The aim of this study was to identify potential diagnostic markers of Hereditary Spastic Paraplegia (HSP). We investigated the …
Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.
de Bot ST, van den Elzen RT, Mensenkamp AR, Schelhaas HJ, Willemsen MA, Knoers NV, Kremer HP, van de Warrenburg BP, Scheffer H. de Bot ST, et al. J Neurol Neurosurg Psychiatry. 2010 Oct;81(10):1073-8. doi: 10.1136/jnnp.2009.201103. Epub 2010 Jun 20. J Neurol Neurosurg Psychiatry. 2010. PMID: 20562464 Free article.
Age at onset ranged from 1 to 63 years with a bimodal peak distribution in the first decade and above age 30. The predominantly pure spastic paraplegia was accompanied by deep sensory disturbances and sphincter problems in almost 50%. ...The pathogenicity of S44L, t …
Age at onset ranged from 1 to 63 years with a bimodal peak distribution in the first decade and above age 30. The predominantly pure spas …