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30 results

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Page 1
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium; Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A. Dominik N, et al. Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. Brain. 2023. PMID: 37450567 Free PMC article.
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive neurodegenerative disease, usually caused by biallelic AAGGG repeat expansions in RFC1. ...
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive neurodegenerative di …
Paraneoplastic Neurological Syndromes of the Central Nervous System: Pathophysiology, Diagnosis, and Treatment.
Marsili L, Marcucci S, LaPorta J, Chirra M, Espay AJ, Colosimo C. Marsili L, et al. Biomedicines. 2023 May 9;11(5):1406. doi: 10.3390/biomedicines11051406. Biomedicines. 2023. PMID: 37239077 Free PMC article. Review.
PNS of the CNS exhibit a range of overlapping "high-risk" clinical syndromes, including but not limited to latent and overt rapidly progressive cerebellar syndrome, opsoclonus-myoclonus-ataxia syndrome, paraneoplastic (and limbic) encephalitis/encephal …
PNS of the CNS exhibit a range of overlapping "high-risk" clinical syndromes, including but not limited to latent and overt rapidly progress …
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP, Parolin Schnekenberg R, McGowan S, Sims D, McEntagart M, Elmslie F, Shears D, Stewart H, Tofaris GK, Dabir T, Morrison PJ, Johnson D, Hadjivassiliou M, Ellard S, Shaw-Smith C, Znaczko A, Dixit A, Suri M, Sarkar A, Harrison RE, Jones G, Houlden H, Ceravolo G, Jarvis J, Williams J, Shanks ME, Clouston P, Rankin J, Blumkin L, Lerman-Sagie T, Ponger P, Raskin S, Granath K, Uusimaa J, Conti H, McCann E, Joss S, Blakes AJM, Metcalfe K, Kingston H, Bertoli M, Kneen R, Lynch SA, Martínez Albaladejo I, Moore AP, Jones WD; Genomics England Research Consortium; Becker EBE, Németh AH. Tolonen JP, et al. Mov Disord. 2024 Jan;39(1):141-151. doi: 10.1002/mds.29651. Epub 2023 Nov 14. Mov Disord. 2024. PMID: 37964426 Free PMC article.
BACKGROUND: The ITPR1 gene encodes the inositol 1,4,5-trisphosphate (IP(3) ) receptor type 1 (IP(3) R1), a critical player in cerebellar intracellular calcium signaling. Pathogenic missense variants in ITPR1 cause congenital spinocerebellar ataxia type 29 (SCA29), G …
BACKGROUND: The ITPR1 gene encodes the inositol 1,4,5-trisphosphate (IP(3) ) receptor type 1 (IP(3) R1), a critical player in cerebellar …
Saccade dysmetria in Williams-Beuren syndrome.
van der Geest JN, Lagers-van Haselen GC, van Hagen JM, Govaerts LC, de Coo IF, de Zeeuw CI, Frens MA. van der Geest JN, et al. Neuropsychologia. 2004;42(5):569-76. doi: 10.1016/j.neuropsychologia.2003.11.003. Neuropsychologia. 2004. PMID: 14725795
Numerous studies have described the poor visuo-spatial processing capacities of subjects with Williams-Beuren syndrome (WBS), a genetically based developmental disorder. ...
Numerous studies have described the poor visuo-spatial processing capacities of subjects with Williams-Beuren syndrome (WBS), …
Immune-Related Cerebellar Ataxia: A Rare Adverse Effect of Checkpoint Inhibitor Therapy.
Sebbag E, Psimaras D, Baloglu S, Bourgmayer A, Moinard-Butot F, Barthélémy P, Tranchant C, Honnorat J, Bender L. Sebbag E, et al. J Neuroimmune Pharmacol. 2022 Dec;17(3-4):377-379. doi: 10.1007/s11481-021-10026-3. Epub 2021 Oct 22. J Neuroimmune Pharmacol. 2022. PMID: 34687000
Neurologic toxicities that result in high morbidity rates and even mortality have emerged as serious complications of ICIs and have yet to be fully understood. We report a case of an immune induced cerebellar ataxia in a 47 year-old small-cell neuroendocrine carcino …
Neurologic toxicities that result in high morbidity rates and even mortality have emerged as serious complications of ICIs and have yet to b …
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Thomas AC, Williams H, Setó-Salvia N, Bacchelli C, Jenkins D, O'Sullivan M, Mengrelis K, Ishida M, Ocaka L, Chanudet E, James C, Lescai F, Anderson G, Morrogh D, Ryten M, Duncan AJ, Pai YJ, Saraiva JM, Ramos F, Farren B, Saunders D, Vernay B, Gissen P, Straatmaan-Iwanowska A, Baas F, Wood NW, Hersheson J, Houlden H, Hurst J, Scott R, Bitner-Glindzicz M, Moore GE, Sousa SB, Stanier P. Thomas AC, et al. Am J Hum Genet. 2014 Nov 6;95(5):611-21. doi: 10.1016/j.ajhg.2014.10.007. Epub 2014 Nov 6. Am J Hum Genet. 2014. PMID: 25439728 Free PMC article.
Intellectual disability and cerebellar atrophy occur together in a large number of genetic conditions and are frequently associated with microcephaly and/or epilepsy. Here we report the identification of causal mutations in Sorting Nexin 14 (SNX14) found in seven affected …
Intellectual disability and cerebellar atrophy occur together in a large number of genetic conditions and are frequently associated w …
Pilomyxoid astrocytoma of the cerebellum with Williams syndrome: a case report.
Chonan M, Kanamori M, Kumabe T, Saito R, Watanabe M, Tominaga T. Chonan M, et al. Childs Nerv Syst. 2013 Jul;29(7):1211-4. doi: 10.1007/s00381-013-2107-7. Epub 2013 Apr 20. Childs Nerv Syst. 2013. PMID: 23604363
CASE REPORT: A 3-year-old boy with Williams syndrome associated with supravalvular aortic stenosis was admitted to our hospital with disturbance of consciousness and a 2-month history of truncal ataxia. ...The final diagnosis was pilomyxoid astrocytoma. CONCL …
CASE REPORT: A 3-year-old boy with Williams syndrome associated with supravalvular aortic stenosis was admitted to our hospita …
[Myopathy, cerebellar ataxia and Williams syndrome like features in siblings].
Nishina M, Kinoshita M. Nishina M, et al. Rinsho Shinkeigaku. 1994 Feb;34(2):157-62. Rinsho Shinkeigaku. 1994. PMID: 8194269 Japanese.
The two cases resembled clinically those of Williams syndrome, but the MRI findings were not consistent with those of the syndrome. The disorder is considered to be either Williams syndrome complicated by some other relatively rare clinical feat …
The two cases resembled clinically those of Williams syndrome, but the MRI findings were not consistent with those of the s …
Ataxia without telangiectasia.
Friedman JH, Weitberg A. Friedman JH, et al. Mov Disord. 1993 Apr;8(2):223-6. doi: 10.1002/mds.870080222. Mov Disord. 1993. PMID: 8474496
Ataxia telangiectasia (AT) is an autosomal recessive hereditary disorder characterized by onset in infancy or childhood of a cerebellar and later extrapyramidal disorder associated with telangiectasias and an immune deficit. ...This and other cases suggest that a ne …
Ataxia telangiectasia (AT) is an autosomal recessive hereditary disorder characterized by onset in infancy or childhood of a cereb …
30 results