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Quoted phrase not found in phrase index: "Neurodegeneration, childhood-onset, with cerebellar atrophy"
Page 1
Ataxia telangiectasia.
Nissenkorn A, Ben-Zeev B. Nissenkorn A, et al. Handb Clin Neurol. 2015;132:199-214. doi: 10.1016/B978-0-444-62702-5.00014-7. Handb Clin Neurol. 2015. PMID: 26564081 Review.
These complications are explained by the major role played by ATM in DNA repair. AT is also the second most common childhood onset neurodegenerative disorder of the cerebellum, presenting with progressive ataxia and oculomotor apraxia and often accompanied by …
These complications are explained by the major role played by ATM in DNA repair. AT is also the second most common childhood onset …
Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.
Romani M, Kraoua I, Micalizzi A, Klaa H, Benrhouma H, Drissi C, Turki I, Castellana S, Mazza T, Valente EM, Gouider-Khouja N. Romani M, et al. Eur J Neurol. 2015 Jan;22(1):178-86. doi: 10.1111/ene.12552. Epub 2014 Aug 27. Eur J Neurol. 2015. PMID: 25164370
Neuroimaging showed cerebellar atrophy and claval hypertrophy to be the commonest and earliest signs, whilst cerebellar cortex hyperintensity and pallidal iron deposition were later findings. ...Cerebellar atrophy, claval hypertrophy and pallida …
Neuroimaging showed cerebellar atrophy and claval hypertrophy to be the commonest and earliest signs, whilst cerebellar …
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Rattay TW, Lindig T, Baets J, Smets K, Deconinck T, Söhn AS, Hörtnagel K, Eckstein KN, Wiethoff S, Reichbauer J, Döbler-Neumann M, Krägeloh-Mann I, Auer-Grumbach M, Plecko B, Münchau A, Wilken B, Janauschek M, Giese AK, De Bleecker JL, Ortibus E, Debyser M, Lopez de Munain A, Pujol A, Bassi MT, D'Angelo MG, De Jonghe P, Züchner S, Bauer P, Schöls L, Schüle R. Rattay TW, et al. Brain. 2019 Jun 1;142(6):1561-1572. doi: 10.1093/brain/awz102. Brain. 2019. PMID: 31135052 Free PMC article.
We performed an in-depth clinical and retrospective neurophysiological and imaging study in a cohort of 19 cases with biallelic FA2H mutations. FAHN/SPG35 manifests with early childhood onset predominantly lower limb spastic tetraparesis and truncal instability, dys …
We performed an in-depth clinical and retrospective neurophysiological and imaging study in a cohort of 19 cases with biallelic FA2H mutatio …
PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.
Darling A, Aguilera-Albesa S, Tello CA, Serrano M, Tomás M, Camino-León R, Fernández-Ramos J, Jiménez-Escrig A, Poó P, O'Callaghan M, Ortez C, Nascimento A, Fernández Mesaque RC, Madruga M, Arrabal L, Roldan S, Gómez-Martín H, Garrido C, Temudo T, Jou-Muñoz C, Muchart J, Huisman TAGM, Poretti A, Lupo V, Espinós C, Pérez-Dueñas B. Darling A, et al. Parkinsonism Relat Disord. 2019 Apr;61:179-186. doi: 10.1016/j.parkreldis.2018.10.013. Epub 2018 Oct 13. Parkinsonism Relat Disord. 2019. PMID: 30340910
MRI assessment identified cerebellar atrophy (19/19), brain iron deposition (10/19), clava hypertrophy (8/19) and T2/FLAIR hyperintensity of the cerebellar cortex (6/19). ...CONCLUSIONS: Cerebellar atrophy was a universal radiological sign in in …
MRI assessment identified cerebellar atrophy (19/19), brain iron deposition (10/19), clava hypertrophy (8/19) and T2/FLAIR hyp …
A novel pathogenic variant in the 3' end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype?
Türay S, Eröz R, Başak AN. Türay S, et al. Neurogenetics. 2021 May;22(2):127-132. doi: 10.1007/s10048-021-00643-8. Epub 2021 Apr 28. Neurogenetics. 2021. PMID: 33909173 Review.
Childhood-onset neurodegeneration with cerebellar atrophy (CONDCA) is a recently described form of the large group of infantile hereditary lower motor neuron diseases (Teoh et al. 2017), resulting from biallelic damaging variants in the AGTPBP1 …
Childhood-onset neurodegeneration with cerebellar atrophy (CONDCA) is a recently described form of the la …
Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report.
Aryan H, Razmara E, Farhud D, Zarif-Yeganeh M, Zokaei S, Hassani SA, Ashrafi MR, Garshasbi M, Tavasoli AR. Aryan H, et al. BMC Neurol. 2020 Aug 3;20(1):291. doi: 10.1186/s12883-020-01873-3. BMC Neurol. 2020. PMID: 32746785 Free PMC article. Review.
BACKGROUND: Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS) is an autosomal recessive disorder caused by defects in the ADP-Ribosylhydrolase Like 2 (ADPRHL2; OMIM: 618170) gene. ...All basic metabolic tests were n …
BACKGROUND: Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS) is an autosom …
New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations.
Salih MA, Mundwiller E, Khan AO, AlDrees A, Elmalik SA, Hassan HH, Al-Owain M, Alkhalidi HM, Katona I, Kabiraj MM, Chrast R, Kentab AY, Alzaidan H, Rodenburg RJ, Bosley TM, Weis J, Koenig M, Stevanin G, Azzedine H. Salih MA, et al. PLoS One. 2013 Oct 9;8(10):e76831. doi: 10.1371/journal.pone.0076831. eCollection 2013. PLoS One. 2013. PMID: 24130795 Free PMC article.
We report detailed clinical, electrophysiological, neuroimaging, histologic, biochemical and genetic characterization of 11 patients, from 6 consanguineous families, who were followed for a period of up to 17 years. Cerebellar atrophy was constant and the earliest f …
We report detailed clinical, electrophysiological, neuroimaging, histologic, biochemical and genetic characterization of 11 patients, from 6 …
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype.
Garone C, Pippucci T, Cordelli DM, Zuntini R, Castegnaro G, Marconi C, Graziano C, Marchiani V, Verrotti A, Seri M, Franzoni E. Garone C, et al. Dev Med Child Neurol. 2011 Oct;53(10):958-61. doi: 10.1111/j.1469-8749.2011.03993.x. Epub 2011 May 18. Dev Med Child Neurol. 2011. PMID: 21592092 Free article.
Homozygous mutations in the gene for fatty acid 2-hydroxylase (FA2H) have been associated in humans with three neurodegenerative disorders: complicated spastic paraplegia (SPG35), leukodystrophy with spastic paraparesis and dystonia, and neurodegeneration with brain iron a …
Homozygous mutations in the gene for fatty acid 2-hydroxylase (FA2H) have been associated in humans with three neurodegenerative disorders: …