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Page 1
Infantile onset ascending hereditary spastic paralysis.
Eltoum A, O'Rourke D, Sharif F. Eltoum A, et al. BMJ Case Rep. 2022 Jan 17;15(1):e240941. doi: 10.1136/bcr-2020-240941. BMJ Case Rep. 2022. PMID: 35039335 Free PMC article.
She is being managed by a multidisciplinary team involving paediatrician, paediatric neurologist, physiotherapist, occupational therapist, speech and language therapist, dietitian and social worker. Infantile onset ascending hereditary spastic …
She is being managed by a multidisciplinary team involving paediatrician, paediatric neurologist, physiotherapist, occupational therapist, s …
Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review.
Racis L, Tessa A, Pugliatti M, Storti E, Agnetti V, Santorelli FM. Racis L, et al. Eur J Paediatr Neurol. 2014 Mar;18(2):235-9. doi: 10.1016/j.ejpn.2013.09.009. Epub 2013 Oct 9. Eur J Paediatr Neurol. 2014. PMID: 24144828 Review.
BACKGROUND: Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare, early-onset autosomal recessive motor neuron disease associated with mutations in ALS2. ...
BACKGROUND: Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare, early-onset …
Elevated Plasma Neurofilament Light Chain Levels in Children with Infantile-Onset Ascending Hereditary Spastic Paralysis.
Zubair U, Battaglia N, Alecu JE, Tam A, Rong J, Quiroz V, Yang K, Kim HM, Warren K, Mannix R, Della Vecchia S, Santorelli FM, Ebrahimi-Fakhari D. Zubair U, et al. Mov Disord Clin Pract. 2025 Nov;12(11):1947-1952. doi: 10.1002/mdc3.70157. Epub 2025 May 29. Mov Disord Clin Pract. 2025. PMID: 40439044
BACKGROUND: Infantile-onset ascending hereditary spastic paralysis (IAHSP), caused by bi-allelic variants in ALS2, is an ultra-rare, neurodegenerative disorder characterized by progressive ascending spasticity and weakness with bulbar dys …
BACKGROUND: Infantile-onset ascending hereditary spastic paralysis (IAHSP), caused by bi-allelic v …
Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.
Eymard-Pierre E, Lesca G, Dollet S, Santorelli FM, di Capua M, Bertini E, Boespflug-Tanguy O. Eymard-Pierre E, et al. Am J Hum Genet. 2002 Sep;71(3):518-27. doi: 10.1086/342359. Epub 2002 Jul 26. Am J Hum Genet. 2002. PMID: 12145748 Free PMC article.
Genotyping and linkage analyses demonstrated that this infantile-onset ascending hereditary spastic paralysis (IAHSP) is allelic to the condition previously reported as juvenile amyotrophic lateral sclerosis at the ALS2 locus on chromosom …
Genotyping and linkage analyses demonstrated that this infantile-onset ascending hereditary spastic pa …
Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation.
Zhang Q, Yang Q, Luo J, Zhou X, Yi S, Tan S, Qin Z. Zhang Q, et al. BMC Med Genomics. 2024 Jan 31;17(1):44. doi: 10.1186/s12920-024-01805-x. BMC Med Genomics. 2024. PMID: 38297306 Free PMC article.
OBJECTIVE: ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts, among which autosomal recessive Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare phenotype. In t …
OBJECTIVE: ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts, among which autosomal …
Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia.
Daud S, Kakar N, Goebel I, Hashmi AS, Yaqub T, Nürnberg G, Nürnberg P, Morris-Rosendahl DJ, Wasim M, Volk AE, Kubisch C, Ahmad J, Borck G. Daud S, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2016;17(3-4):260-5. doi: 10.3109/21678421.2015.1125501. Epub 2016 Jan 11. Amyotroph Lateral Scler Frontotemporal Degener. 2016. PMID: 26751646
Biallelic mutations of ALS2 cause a clinical spectrum of overlapping autosomal recessive neurodegenerative disorders: infantile-onset ascending hereditary spastic paralysis (IAHSP), juvenile primary lateral sclerosis (JPLS), and juvenile …
Biallelic mutations of ALS2 cause a clinical spectrum of overlapping autosomal recessive neurodegenerative disorders: infantile-on …
Conformational Dynamics and Molecular Characterization of Alsin MORN Monomer and Dimeric Assemblies.
Miceli M, Cannariato M, Tortarolo R, Pallante L, Zizzi EA, Deriu MA. Miceli M, et al. Proteins. 2024 Nov;92(11):1343-1353. doi: 10.1002/prot.26728. Epub 2024 Jul 18. Proteins. 2024. PMID: 39023312
Their significance is underscored in the context of the Alsin protein, implicated in the debilitating condition known as infantile-onset ascending hereditary spastic paralysis (IAHSP). Recent investigations have proposed that mutations wi …
Their significance is underscored in the context of the Alsin protein, implicated in the debilitating condition known as infantile- …
Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.
Helal M, Mazaheri N, Shalbafan B, Malamiri RA, Dilaver N, Buchert R, Mohammadiasl J, Golchin N, Sedaghat A, Mehrjardi MYV, Haack TB, Riess O, Chung WK, Galehdari H, Shariati G, Maroofian R. Helal M, et al. Neurol Sci. 2018 Nov;39(11):1917-1925. doi: 10.1007/s10072-018-3526-8. Epub 2018 Aug 21. Neurol Sci. 2018. PMID: 30128655 Free article.
Biallelic mutations of the alsin Rho guanine nucleotide exchange factor (ALS2) gene cause a group of overlapping autosomal recessive neurodegenerative disorders including infantile-onset ascending hereditary spastic paralysis (IAHSP), juv …
Biallelic mutations of the alsin Rho guanine nucleotide exchange factor (ALS2) gene cause a group of overlapping autosomal recessive neurode …
27 results