Expanding the Spectrum of Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
https://link.springer.com/content/pdf/10.1007/s12311-023-01582-w.pdf
Reference21 articles.
1. Aryan H, Razmara E, Farhud D, Zarif-Yeganeh M, Zokaei S, Hassani SA, et al. Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: A case report. BMC Neurol. 2020;20:1–11.
2. Durmus H, Mertoğlu E, Sticht H, Ceylaner S, Kulaksızoğlu IB, Hashemolhosseini S, et al. Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP sydrome) caused by a novel mutation in ADPRHL2 (AHR3). Neurol Sci. 2021;42:3871–8.
3. Gwyneth Welch LT. Mechanisms of DNA damage-mediated neurotoxicity in neurodegenerative disease. EMBO Rep. 2022;23:e54217.
4. Danhauser K, Alhaddad B, Makowski C, Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N, et al. Bi-allelic ADPRHL2 mutations cause neurodegeneration with developmental delay, ataxia, and axonal neuropathy. Am J Hum Genet. 2018;103:817–25.
5. Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, et al. Biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, lead to a degenerative pediatric stress-induced epileptic ataxia syndrome. Am J Hum Genet. 2018;103:431–9.
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