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Quoted phrase not found in phrase index: "Autosomal recessive cerebellar ataxia with late-onset spasticity"
Page 1
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.
Colucci F, Neri M, Fortunato F, Ferlini A, Carrozzo R, Torraco A, Lamantea E, Legati A, Tecilla G, Pugliatti M, Sensi M. Colucci F, et al. Cerebellum. 2023 Dec;22(6):1313-1319. doi: 10.1007/s12311-022-01497-y. Epub 2022 Nov 30. Cerebellum. 2023. PMID: 36447112
AFG3-like matrix AAA peptidase subunit 2 gene (AFG3L2, OMIM * 604,581) biallelic mutations lead to autosomal recessive spastic ataxia-5 SPAX5, OMIM # 614,487), a rare hereditary form of ataxia. The clinical spectrum includes early-onset cereb …
AFG3-like matrix AAA peptidase subunit 2 gene (AFG3L2, OMIM * 604,581) biallelic mutations lead to autosomal recessive spas …
Peripheral nerve involvement in hereditary cerebellar and multisystem degenerative disorders.
Berciano J, García A, Infante J. Berciano J, et al. Handb Clin Neurol. 2013;115:907-32. doi: 10.1016/B978-0-444-52902-2.00051-5. Handb Clin Neurol. 2013. PMID: 23931821 Review.
Hereditary ataxias (HA) encompass an increasing number of degenerative disorders characterized by progressive cerebellar ataxia usually accompanied by extracerebellar semeiology including peripheral nerve involvement. ...The main categories in this classification we …
Hereditary ataxias (HA) encompass an increasing number of degenerative disorders characterized by progressive cerebellar ataxia …
Ataxias with autosomal, X-chromosomal or maternal inheritance.
Finsterer J. Finsterer J. Can J Neurol Sci. 2009 Jul;36(4):409-28. doi: 10.1017/s0317167100007733. Can J Neurol Sci. 2009. PMID: 19650351 Review.
Heredoataxias are a group of genetic disorders with a cerebellar syndrome as the leading clinical manifestation. The current classification distinguishes heredoataxias according to the trait of inheritance into autosomal dominant, autosomal recessive, …
Heredoataxias are a group of genetic disorders with a cerebellar syndrome as the leading clinical manifestation. The current classifi …
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.
Mancini C, Giorgio E, Rubegni A, Pradotto L, Bagnoli S, Rubino E, Prontera P, Cavalieri S, Di Gregorio E, Ferrero M, Pozzi E, Riberi E, Ferrero P, Nigro P, Mauro A, Zibetti M, Tessa A, Barghigiani M, Antenora A, Sirchia F, Piacentini S, Silvestri G, De Michele G, Filla A, Orsi L, Santorelli FM, Brusco A. Mancini C, et al. Eur J Neurol. 2019 Jan;26(1):80-86. doi: 10.1111/ene.13768. Epub 2018 Sep 3. Eur J Neurol. 2019. PMID: 30098094 Free article.
RESULTS: We identified eight homozygotes and 13 compound heterozygotes, including two novel variants affecting splicing. Mutated patients showed a pure cerebellar ataxia at onset, evolving in mild spastic ataxia (alternatively) associated with dysarthr …
RESULTS: We identified eight homozygotes and 13 compound heterozygotes, including two novel variants affecting splicing. Mutated patients sh …
Mutations in SACS cause atypical and late-onset forms of ARSACS.
Baets J, Deconinck T, Smets K, Goossens D, Van den Bergh P, Dahan K, Schmedding E, Santens P, Rasic VM, Van Damme P, Robberecht W, De Meirleir L, Michielsens B, Del-Favero J, Jordanova A, De Jonghe P. Baets J, et al. Neurology. 2010 Sep 28;75(13):1181-8. doi: 10.1212/WNL.0b013e3181f4d86c. Neurology. 2010. PMID: 20876471
BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a complex neurodegenerative disorder caused by mutations in SACS. The phenotype consists of a childhood-onset triad of cerebellar ataxia, peripheral neuropa …
BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a complex neurodegenerative di …
Prevalence and pattern of spinocerebellar degenerations in northeastern Libya.
Sridharan R, Radhakrishnan K, Ashok PP, Mousa ME. Sridharan R, et al. Brain. 1985 Dec;108 ( Pt 4):831-43. doi: 10.1093/brain/108.4.831. Brain. 1985. PMID: 4075075
Twenty-five patients lived in Benghazi, giving a crude prevalence of 4.8/100 000 population. There were 24 patients (10 families) with hereditary spastic paraplegia (HSP), 13 (9 families) with early onset cerebellar ataxia with retained tendon reflexes (EOCA) …
Twenty-five patients lived in Benghazi, giving a crude prevalence of 4.8/100 000 population. There were 24 patients (10 families) with hered …