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Quoted phrase not found in phrase index: "Optic atrophy--spastic paraplegia syndrome"
Page 1
A Diagnostic Approach to Spastic ataxia Syndromes.
Pedroso JL, Vale TC, França Junior MC, Kauffman MA, Teive H, Barsottini OGP, Munhoz RP. Pedroso JL, et al. Cerebellum. 2022 Dec;21(6):1073-1084. doi: 10.1007/s12311-021-01345-5. Epub 2021 Nov 15. Cerebellum. 2022. PMID: 34782953 Review.
It is the hallmark of some hereditary ataxias, but it can also occur in some spastic paraplegias and acquired conditions. It often presents with heterogenous clinical features with other neurologic and non-neurological symptoms, resulting in complex phenotypes. ...Establis …
It is the hallmark of some hereditary ataxias, but it can also occur in some spastic paraplegias and acquired conditions. It often pr …
Tropical spastic paraparesis.
Román GC. Román GC. Handb Clin Neurol. 2023;196:149-156. doi: 10.1016/B978-0-323-98817-9.00026-0. Handb Clin Neurol. 2023. PMID: 37620067 Review.
Other toxic etiologies of TSP include lathyrism and fluorosis. Nutritional forms of myelopathy are associated often with optic and sensory neuropathy, hence the name tropical myeloneuropathies. Acute transverse myelopathy, seen in association with vaccination, infections, …
Other toxic etiologies of TSP include lathyrism and fluorosis. Nutritional forms of myelopathy are associated often with optic and se …
Hereditary Myelopathies.
Hedera P. Hedera P. Continuum (Minneap Minn). 2018 Apr;24(2, Spinal Cord Disorders):523-550. doi: 10.1212/CON.0000000000000580. Continuum (Minneap Minn). 2018. PMID: 29613898 Review.
This article reviews various types of inherited myelopathies, with emphasis on hereditary spastic paraplegias and spastic ataxias. RECENT FINDINGS: The ever-growing number of myelopathy-causing genes and broadening of phenotype-genotype correlations makes the molecular dia …
This article reviews various types of inherited myelopathies, with emphasis on hereditary spastic paraplegias and spastic ataxias. RE …
PNPLA6 disorders: what's in a name?
Liu J, Hufnagel RB. Liu J, et al. Ophthalmic Genet. 2023 Dec;44(6):530-538. doi: 10.1080/13816810.2023.2254830. Epub 2023 Nov 20. Ophthalmic Genet. 2023. PMID: 37732399 Review.
RESULTS: Biallelic pathogenic PNPLA6 variants cause five systemic neurological disorders: spastic paraplegia type 39, Gordon-Holmes, Boucher-Neuhauser, Laurence-Moon, and Oliver-McFarlane syndromes. ...
RESULTS: Biallelic pathogenic PNPLA6 variants cause five systemic neurological disorders: spastic paraplegia type 39, Gordon-Holmes, …
Neuro-Ophthalmic Phenotype of OPA3.
Huna-Baron R, Yahalom G, Anikster Y, Ben Zeev B, Hoffmann C, Hassin-Baer S. Huna-Baron R, et al. J Neuroophthalmol. 2022 Mar 1;42(1):e147-e152. doi: 10.1097/WNO.0000000000001249. Epub 2021 Apr 14. J Neuroophthalmol. 2022. PMID: 33870938
BACKGROUND: Type III 3-methylglutaconic aciduria (OPA 3) is a neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy. Since Costeff described the phenotype of 19 patients in 1989, several reports described approximately 50 patients, but most …
BACKGROUND: Type III 3-methylglutaconic aciduria (OPA 3) is a neuro-ophthalmologic syndrome consisting of early-onset bilateral op …
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Calame DG, Moreno Vadillo C, Berger S, Lotze T, Shinawi M, Poupak J, Heller C, Cohen J, Person R, Telegrafi A, Phitsanuwong C, Fiala K, Thiffault I, Del Viso F, Zhou D, Fleming EA, Pastinen T, Fatemi A, Thomas S, Pascual SI, Torres RJ, Prior C, Gómez-González C, Biskup S, Lupski JR, Maric D, Holmgren M, Regier D, Yano ST. Calame DG, et al. Brain. 2023 Aug 1;146(8):3162-3171. doi: 10.1093/brain/awad124. Brain. 2023. PMID: 37043503 Free PMC article.
Heterozygous pathogenic ATP1A3 variants produce several distinct neurological syndromes, yet the molecular basis for phenotypic variability is unclear. ...No patients fulfil diagnostic criteria for ATP1A3-associated syndromes, including alternating hemiplegia of chi …
Heterozygous pathogenic ATP1A3 variants produce several distinct neurological syndromes, yet the molecular basis for phenotypic varia …
Multiple Sclerosis: An Emergency Medicine-Focused Narrative Review.
Pelletier J, Sugar D, Koyfman A, Long B. Pelletier J, et al. J Emerg Med. 2024 Apr;66(4):e441-e456. doi: 10.1016/j.jemermed.2023.12.003. Epub 2023 Dec 15. J Emerg Med. 2024. PMID: 38472027 Review.
Patients with MS most commonly present with long tract signs (e.g., myelopathy, asymmetric spastic paraplegia, urinary dysfunction, Lhermitte's sign), optic neuritis, or brainstem syndromes (bilateral internuclear ophthalmoplegia). Cortical syndromes o …
Patients with MS most commonly present with long tract signs (e.g., myelopathy, asymmetric spastic paraplegia, urinary dysfunction, L …
Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia.
Seo Y, Lim HT, Lee BJ, Han J. Seo Y, et al. Am J Med Genet A. 2023 Feb;191(2):582-585. doi: 10.1002/ajmg.a.63037. Epub 2022 Nov 11. Am J Med Genet A. 2023. PMID: 36367250
SPG7 encodes paraplegin, and pathogenic variants in the gene cause hereditary spastic paraplegia as an autosomal recessive trait. Various ophthalmological findings including optic atrophy, ophthalmoplegia, or nystagmus have been reported in patients with spastic …
SPG7 encodes paraplegin, and pathogenic variants in the gene cause hereditary spastic paraplegia as an autosomal recessive trait. Var …
Pediatric neurology.
Baird HW. Baird HW. Prog Neurol Psychiatry. 1969;24:241-54. Prog Neurol Psychiatry. 1969. PMID: 4244101 Review. No abstract available.
Costeff optic atrophy syndrome: new clinical case and novel molecular findings.
Ho G, Walter JH, Christodoulou J. Ho G, et al. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S419-23. doi: 10.1007/s10545-008-0981-z. Epub 2008 Nov 7. J Inherit Metab Dis. 2008. PMID: 18985435 Review.
Type I MGA is a disorder of leucine metabolism, while the biological basis for the MGA is unclear for the other types (MGA types II-V). MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome …
Type I MGA is a disorder of leucine metabolism, while the biological basis for the MGA is unclear for the other types (MGA types II-V). MGA …
51 results