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Quoted phrase not found in phrase index: "Neurodegeneration, childhood-onset, with cerebellar atrophy"
Page 1
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 …
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
METHODS: Observational clinical study in a cohort of infantile and childhood onset PLAN patients and genetic analysis of the PLA2G6 gene. ...CONCLUSIONS: Cerebellar atrophy was a universal radiological sign in infantile and childhood o …
METHODS: Observational clinical study in a cohort of infantile and childhood onset PLAN patients and genetic analysis o …
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.
Importantly, by combining clinical and genetic data we have observed that while the phenotype of neurodegeneration associated with PLA2G6 mutations is variable in this cohort of patients belonging to the same ethnic background, it is partially influenced by the geno …
Importantly, by combining clinical and genetic data we have observed that while the phenotype of neurodegeneration associated …
Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype.
Brusse E, de Koning I, Maat-Kievit A, Oostra BA, Heutink P, van Swieten JC. Brusse E, et al. Mov Disord. 2006 Mar;21(3):396-401. doi: 10.1002/mds.20708. Mov Disord. 2006. PMID: 16211615
Magnetic resonance imaging (MRI) of the brain showed only moderate cerebellar atrophy in the 2 eldest patients. Neuropsychological testing indicated low IQ and deficits in memory and executive functioning. Behavioral problems were also observed. Further inves …
Magnetic resonance imaging (MRI) of the brain showed only moderate cerebellar atrophy in the 2 eldest patients. Neuropsycholog …
High-intensity proton and T2-weighted MRI signals in the globus pallidus in juvenile-type of dentatorubral and pallidoluysian atrophy.
Imamura A, Ito R, Tanaka S, Fukutomi O, Shimozawa N, Nishimura M, Suzuki Y, Kondo N, Yamada M, Orii T. Imamura A, et al. Neuropediatrics. 1994 Oct;25(5):234-7. doi: 10.1055/s-2008-1073027. Neuropediatrics. 1994. PMID: 7885531
Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder. An expanded CAG trinucleotide repeat sequence motif in a gene on the short arm of chromosome 12 has recently been identified in patients with DRPLA. Juvenile-type DRPLA is …
Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder. An expanded CAG trinucleotide r …