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Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 73"
Page 1
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 …
Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia.
Cao Y, Zheng H, Zhu Z, Yao L, Tian W, Cao L. Cao Y, et al. Mov Disord. 2024 Apr;39(4):651-662. doi: 10.1002/mds.29728. Epub 2024 Jan 31. Mov Disord. 2024. PMID: 38291924
BACKGROUND: Next-generation sequencing-based molecular assessment has benefited the diagnosis of hereditary spastic paraplegia (HSP) subtypes. However, the clinical and genetic spectrum of HSP due to large fragment deletions/duplications has yet to be fully d …
BACKGROUND: Next-generation sequencing-based molecular assessment has benefited the diagnosis of hereditary spastic paraple …
Familiarity with Hereditary Spastic Paraplegia (HSP) and Differentiation of Upper Body Gait Characteristics between Children with HSP and Spastic Diplegic Cerebral Palsy.
Bickley C, Mitchell K, Scott A, Bury M, Oyelami M. Bickley C, et al. Phys Occup Ther Pediatr. 2021;41(1):99-113. doi: 10.1080/01942638.2020.1819934. Epub 2020 Sep 17. Phys Occup Ther Pediatr. 2021. PMID: 32942942
Part-two examined accuracy in differential diagnosis of HSP versus SD-CP using gait analysis and the effects of an educational module on upper body gait deviations observed in individuals with HSP. RESULTS: Both PTs and PTAs indicated a high degree (73.2%) of unfami …
Part-two examined accuracy in differential diagnosis of HSP versus SD-CP using gait analysis and the effects of an educational module on upp …
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A. Montecchiani C, et al. Brain. 2016 Jan;139(Pt 1):73-85. doi: 10.1093/brain/awv320. Epub 2015 Nov 10. Brain. 2016. PMID: 26556829 Free PMC article.
Mutations in the ALS5/SPG11/KIAA1840 gene are a frequent cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and peripheral axonal neuropathy, and account for 40% of autosomal recessive juvenile amyotrophic lateral sclerosis. …
Mutations in the ALS5/SPG11/KIAA1840 gene are a frequent cause of autosomal recessive hereditary spastic paraplegia wit …
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
Goizet C, Boukhris A, Durr A, Beetz C, Truchetto J, Tesson C, Tsaousidou M, Forlani S, Guyant-Maréchal L, Fontaine B, Guimarães J, Isidor B, Chazouillères O, Wendum D, Grid D, Chevy F, Chinnery PF, Coutinho P, Azulay JP, Feki I, Mochel F, Wolf C, Mhiri C, Crosby A, Brice A, Stevanin G. Goizet C, et al. Brain. 2009 Jun;132(Pt 6):1589-600. doi: 10.1093/brain/awp073. Epub 2009 May 12. Brain. 2009. PMID: 19439420
We analysed the coding region and exon-intron boundaries of the CYP7B1 gene by direct sequencing in a series of 82 unrelated autosomal recessive hereditary spastic paraplegia index patients, manifesting either a pure (n = 52) or a complex form (n = 30) of the …
We analysed the coding region and exon-intron boundaries of the CYP7B1 gene by direct sequencing in a series of 82 unrelated autosomal reces …
Intrathecal baclofen in hereditary spastic paraparesis.
Meythaler JM, Steers WD, Tuel SM, Cross LL, Sesco DC, Haworth CS. Meythaler JM, et al. Arch Phys Med Rehabil. 1992 Sep;73(9):794-7. Arch Phys Med Rehabil. 1992. PMID: 1514885 Clinical Trial.
Intrathecal baclofen has not been previously evaluated for the treatment of the disabling hypertonia associated with hereditary spastic paraparesis. Muscle tone and deep-tendon reflexes were evaluated in three patients with hereditary spastic parapares …
Intrathecal baclofen has not been previously evaluated for the treatment of the disabling hypertonia associated with hereditary sp …
Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia.
McMonagle P, Byrne P, Hutchinson M. McMonagle P, et al. Neurology. 2004 Feb 10;62(3):407-10. doi: 10.1212/01.wnl.0000108629.04434.05. Neurology. 2004. PMID: 14872021
OBJECTIVE: To investigate the progression of cognitive impairment and its behavioral aspects in patients with SPG4-linked autosomal dominant hereditary spastic paraplegia (SPG4-ADHSP). METHODS: Sixteen patients, 45 years or older, from five families with SPG4 …
OBJECTIVE: To investigate the progression of cognitive impairment and its behavioral aspects in patients with SPG4-linked autosomal dominant …
A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.
Blumkin L, Lerman-Sagie T, Lev D, Yosovich K, Leshinsky-Silver E. Blumkin L, et al. J Neurol Sci. 2011 Jun 15;305(1-2):67-70. doi: 10.1016/j.jns.2011.03.011. Epub 2011 Mar 25. J Neurol Sci. 2011. PMID: 21440262
The hereditary spastic paraplegias (HSP) are a heterogeneous group of genetic neurodegenerative disorders in which the main feature is progressive spasticity of the lower limbs due to pyramidal tract dysfunction. Clinically HSP are divided into two forms: a pure for …
The hereditary spastic paraplegias (HSP) are a heterogeneous group of genetic neurodegenerative disorders in which the main fe …
A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder.
Matthews AM, Tarailo-Graovac M, Price EM, Blydt-Hansen I, Ghani A, Drögemöller BI, Robinson WP, Ross CJ, Wasserman WW, Siden H, van Karnebeek CD. Matthews AM, et al. Eur J Med Genet. 2017 Oct;60(10):548-552. doi: 10.1016/j.ejmg.2017.07.015. Epub 2017 Aug 1. Eur J Med Genet. 2017. PMID: 28778789
Here we report a 12 year old male with an extreme presentation of spastic paraplegia along with autism and dysmorphisms. Whole exome sequencing identified a predicted pathogenic pair of missense variants in SPAST at the same chromosomal location, each with a …
Here we report a 12 year old male with an extreme presentation of spastic paraplegia along with autism and dysmorphisms. Whole …