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Visual Morbidity in Stroke Survivors: A Pilot Study

1. Eggermann K, Gess B, Häusler M, Weis J, Hahn A, Kurth I. Hereditary Neuropathies. Dtsch Arztebl Int 2018;115:91‐7. 2. Aryan H, Razmara E, Farhud D, Zarif‐Yeganeh M, Zokaei S,… Click to show full abstract

1. Eggermann K, Gess B, Häusler M, Weis J, Hahn A, Kurth I. Hereditary Neuropathies. Dtsch Arztebl Int 2018;115:91‐7. 2. 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;20:291. doi: 10.1186/s12883‐020‐01873‐3. 3. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier‐Foster J, et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405‐24. 4. Ghosh SG, Becker K, Huang H, Dixon‐Salazar T, Chai G, Salpietro V, et al. Biallelic mutations in ADPRHL2, encoding ADP‐ribosylhydrolase, lead to a degenerative pediatric stress‐induced epileptic ataxia syndrome. Am J Hum Genet 2018;103:431‐39. 5. 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. 6. Mishra B, Fatima S, Agarwal A, Radhakrishnan DM, Garg A, Srivastava AK. Dystonia and myelopathy in a case of stress‐induced childhood‐onset neurodegeneration with ataxia and seizures (CONDSIAS). Mov Disord Clin Pract 2020;8:156‐8. 7. Ozturk G, Ayaz A, TopcuY, Akyuz G, Unver O, Akbeyaz IH, et al. Stress‐induced childhood onset neurodegeneration with ataxia and seizures (CONDSIAS) presenting with torticollis attacks: Phenotypic variability of the same mutation in two Turkish patients. Ann Indian Acad Neurol 2022; doi: 10.4103/aian.aian_314_21. 8. Fonda Allen J, Stoll K, Bernhardt BA. Pre‐ and post‐test genetic counseling for chromosomal and Mendelian disorders. Semin Perinatol 2016;40:44‐55.

Keywords: survivors pilot; stress induced; stroke survivors; visual morbidity; morbidity stroke; pilot study

Journal Title: Annals of Indian Academy of Neurology
Year Published: 2022

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