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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 hereditar …
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
Méreaux JL, Firanescu C, Coarelli G, Kvarnung M, Rodrigues R, Pegoraro E, Tazir M, Taithe F, Valter R, Huin V, Lidström K, Banneau G, Morais S, Parodi L, Coutelier M, Papin M, Svenningsson P, Azulay JP, Alonso I, Nilsson D, Brice A, Le Guern E, Press R, Vazza G, Loureiro JL, Goizet C, Durr A, Paucar M, Stevanin G. Méreaux JL, et al. Neurogenetics. 2021 Mar;22(1):71-79. doi: 10.1007/s10048-020-00633-2. Epub 2021 Jan 23. Neurogenetics. 2021. PMID: 33486633 Free PMC article.
Spastic ataxias are rare neurogenetic disorders involving spinocerebellar and pyramidal tracts. ...Among them, CAPN1, when mutated, is responsible for a complex inherited form of spastic paraplegia (SPG76). We report the largest published series of 21 novel p …
Spastic ataxias are rare neurogenetic disorders involving spinocerebellar and pyramidal tracts. ...Among them, CAPN1, when mutated, i …
Prenatal diagnosis of hereditary spastic paraplegia.
Hedera P, Williamson JA, Rainier S, Alvarado D, Tukel T, Apak M, Fink JK. Hedera P, et al. Prenat Diagn. 2001 Mar;21(3):202-6. doi: 10.1002/1097-0223(200103)21:3<202::aid-pd4>3.0.co;2-u. Prenat Diagn. 2001. PMID: 11260609 Free article.
Hereditary spastic paraplegia (HSP) is a degenerative neurologic disorder that causes progressive, often severe, spastic weakness in the legs. Autosomal dominant HSP is a highly penetrant, genetically heterogeneous disorder with loci present on chromos …
Hereditary spastic paraplegia (HSP) is a degenerative neurologic disorder that causes progressive, often severe, spa …
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
van Gassen KL, van der Heijden CD, de Bot ST, den Dunnen WF, van den Berg LH, Verschuuren-Bemelmans CC, Kremer HP, Veldink JH, Kamsteeg EJ, Scheffer H, van de Warrenburg BP. van Gassen KL, et al. Brain. 2012 Oct;135(Pt 10):2994-3004. doi: 10.1093/brain/aws224. Epub 2012 Sep 10. Brain. 2012. PMID: 22964162
Spastic paraplegia type 7 is an autosomal recessive neurodegenerative disorder mainly characterized by progressive bilateral lower limb spasticity and referred to as a form of hereditary spastic paraplegia. ...In this large Dutch cohort, we seem …
Spastic paraplegia type 7 is an autosomal recessive neurodegenerative disorder mainly characterized by progressive bilateral l …
Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland.
Leighton DJ, Ansari M, Newton J, Parry D, Cleary E, Colville S, Stephenson L, Larraz J, Johnson M, Beswick E, Wong M, Gregory J, Carod Artal J, Davenport R, Duncan C, Morrison I, Smith C, Swingler R, Deary IJ, Porteous M, Aitman TJ, Chandran S, Gorrie GH, Pal S; Lothian Birth Cohorts Group; and the CARE-MND Consortium. Leighton DJ, et al. J Neurol. 2023 Mar;270(3):1702-1712. doi: 10.1007/s00415-022-11505-0. Epub 2022 Dec 14. J Neurol. 2023. PMID: 36515702 Free PMC article.
METHODS: Patients were recruited via the Clinical Audit Research and Evaluation for MND (CARE-MND) platform, which hosts the Scottish MND Register. Long survival was defined as > 8 years from diagnosis. 11 phenotypic variables were analysed. ...Significant variants in F …
METHODS: Patients were recruited via the Clinical Audit Research and Evaluation for MND (CARE-MND) platform, which hosts the Scottish …
No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders.
Ahmad-Annuar A, Shah P, Hafezparast M, Hummerich H, Witherden AS, Morrison KE, Shaw PJ, Kirby J, Warner TT, Crosby A, Proukakis C, Wilkinson P, Orrell RW, Bradley L, Martin JE, Fisher EM. Ahmad-Annuar A, et al. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Sep;4(3):150-7. doi: 10.1080/14660820310011737. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003. PMID: 13129801
Therefore we have screened exons of this gene in a set of human patients with familial forms of disparate motor neuron degeneration diseases, affecting both upper and lower motor neurons: amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and hereditary …
Therefore we have screened exons of this gene in a set of human patients with familial forms of disparate motor neuron degeneration diseases …