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Quoted phrase not found in phrase index: "Optic atrophy--spastic paraplegia syndrome"
Page 1
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. ...Although NTE biochemistry is well characterized, further researc …
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 …
Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up.
Galvão CRC, Cavalcante PMA, Olinda R, Graciani Z, Zatz M, Kok F, Santos S, Lancman S. Galvão CRC, et al. BMC Neurol. 2019 Oct 27;19(1):256. doi: 10.1186/s12883-019-1465-5. BMC Neurol. 2019. PMID: 31656170 Free PMC article.
BACKGROUND: Spastic paraplegia, optic atrophy and neuropathy (Spoan syndrome) is an autosomal recessive disease with approximately 70 cases recorded in Brazil and Egypt. METHODS: This is a prospective longitudinal study performed with 47 patients affected wit …
BACKGROUND: Spastic paraplegia, optic atrophy and neuropathy (Spoan syndrome) is an autosomal recessive disease with ap …
Nationwide analysis of neuromyelitis optica in systemic lupus erythematosus and Sjogren's syndrome.
Sami F, Sami SA, Manadan AM, Arora S. Sami F, et al. Clin Rheumatol. 2024 Jan;43(1):59-65. doi: 10.1007/s10067-023-06809-z. Epub 2023 Nov 18. Clin Rheumatol. 2024. PMID: 37980305
OBJECTIVE: Neuromyelitis optica (NMO), also known as Devic's disease, is a rare inflammatory demyelinating disorder causing myelitis and optic neuritis. While there have been reports of systemic lupus erythematosus (SLE) and primary Sjogren's syndrome (SS) occurring …
OBJECTIVE: Neuromyelitis optica (NMO), also known as Devic's disease, is a rare inflammatory demyelinating disorder causing myelitis and …
Costeff syndrome: clinical features and natural history.
Yahalom G, Anikster Y, Huna-Baron R, Hoffmann C, Blumkin L, Lev D, Tsabari R, Nitsan Z, Lerman SF, Ben-Zeev B, Pode-Shakked B, Sofer S, Schweiger A, Lerman-Sagie T, Hassin-Baer S. Yahalom G, et al. J Neurol. 2014 Dec;261(12):2275-82. doi: 10.1007/s00415-014-7481-x. Epub 2014 Sep 9. J Neurol. 2014. PMID: 25201222
Costeff syndrome (CS) is a rare autosomal-recessive neurological disorder, which is known almost exclusively in patients of Iraqi Jewish descent, manifesting in childhood with optic atrophy, ataxia, chorea and spastic paraparesis. ...Pyramidal dysfunction appeared l …
Costeff syndrome (CS) is a rare autosomal-recessive neurological disorder, which is known almost exclusively in patients of Iraqi Jew …
Visual inspection methods for cervical cancer prevention.
Sankaranarayanan R, Nessa A, Esmy PO, Dangou JM. Sankaranarayanan R, et al. Best Pract Res Clin Obstet Gynaecol. 2012 Apr;26(2):221-32. doi: 10.1016/j.bpobgyn.2011.08.003. Epub 2011 Nov 9. Best Pract Res Clin Obstet Gynaecol. 2012. PMID: 22075441 Review.
The low reproducibility and wide variation in accuracy reflect the subjective nature of the test. Pooled sensitivity, specificity, positive and negative predictive values were 80%, 92%, 10% and 99%, respectively, for detecting cervical intraepithelial neoplasia grade 2 or …
The low reproducibility and wide variation in accuracy reflect the subjective nature of the test. Pooled sensitivity, specificity, positive …
Optic neuromyelitis syndrome in Brazilian patients.
Papais-Alvarenga RM, Miranda-Santos CM, Puccioni-Sohler M, de Almeida AM, Oliveira S, Basilio De Oliveira CA, Alvarenga H, Poser CM. Papais-Alvarenga RM, et al. J Neurol Neurosurg Psychiatry. 2002 Oct;73(4):429-35. doi: 10.1136/jnnp.73.4.429. J Neurol Neurosurg Psychiatry. 2002. PMID: 12235313 Free PMC article.
OBJECTIVES: To report the clinical features and outcome of 24 Brazilian patients with optic neuromyelitis syndrome (ONM); discuss the underlying pathological events associated with the ONM syndrome; review the nosological situation of ONM in the group of infl …
OBJECTIVES: To report the clinical features and outcome of 24 Brazilian patients with optic neuromyelitis syndrome (ONM); disc …
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.
Sferra A, Fattori F, Rizza T, Flex E, Bellacchio E, Bruselles A, Petrini S, Cecchetti S, Teson M, Restaldi F, Ciolfi A, Santorelli FM, Zanni G, Barresi S, Castiglioni C, Tartaglia M, Bertini E. Sferra A, et al. Hum Mol Genet. 2018 Jun 1;27(11):1892-1904. doi: 10.1093/hmg/ddy096. Hum Mol Genet. 2018. PMID: 29547997
Here, we causally link a previously unreported missense mutation in TUBB2A (c.1249G>A, p.D417N), encoding one of the neuron-specific beta-tubulin isotype II, to a disorder characterized by progressive spastic paraplegia, peripheral sensory-motor polyneuropathy and ataxi …
Here, we causally link a previously unreported missense mutation in TUBB2A (c.1249G>A, p.D417N), encoding one of the neuron-specific beta …
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesz T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM. Hufnagel RB, et al. J Med Genet. 2015 Feb;52(2):85-94. doi: 10.1136/jmedgenet-2014-102856. Epub 2014 Dec 5. J Med Genet. 2015. PMID: 25480986 Free PMC article.
Laurence-Moon syndrome presents similarly, though with progressive spinocerebellar ataxia and spastic paraplegia and without trichomegaly. ...CONCLUSIONS: Previously, PNPLA6 mutations have been associated with spastic paraplegia type 39, Gordon-Holmes synd …
Laurence-Moon syndrome presents similarly, though with progressive spinocerebellar ataxia and spastic paraplegia and without t …
Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy.
Gaier ED, Sahai I, Wiggs JL, McGeeney B, Hoffman J, Peeler CE. Gaier ED, et al. Ophthalmic Genet. 2019 Dec;40(6):570-573. doi: 10.1080/13816810.2019.1711428. Epub 2020 Jan 13. Ophthalmic Genet. 2019. PMID: 31928268 Free PMC article.
Purpose: To describe and distinguish clinical phenotypes with the overlapping feature of optic atrophy caused by distinct mutations in the same gene, OPA3. ...The novel recessive mutation and clinical presentations described herein further support how different mutation ty …
Purpose: To describe and distinguish clinical phenotypes with the overlapping feature of optic atrophy caused by distinct mutations i …
20 results