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Quoted phrase not found in phrase index: "Spinocerebellar ataxia, autosomal recessive 22"
Page 1
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P. Ruano L, et al. Neuroepidemiology. 2014;42(3):174-83. doi: 10.1159/000358801. Epub 2014 Mar 5. Neuroepidemiology. 2014. PMID: 24603320 Free article. Review.
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia, followed by SCA2 and SCA6. The autosomal recessive …
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia t …
Cerebellar ataxias.
Manto M, Marmolino D. Manto M, et al. Curr Opin Neurol. 2009 Aug;22(4):419-29. doi: 10.1097/WCO.0b013e32832b9897. Curr Opin Neurol. 2009. PMID: 19421057 Review.
The identification of the causative mutations of many hereditary ataxias and the development of relevant animal models bring hope for effective therapies in neurodegenerative ataxias. ...Cerebellar disorders can be divided into sporadic forms and inherited diseases. …
The identification of the causative mutations of many hereditary ataxias and the development of relevant animal models bring hope for …
Cerebellar/spinocerebellar syndromes.
Mariotti C, Di Donato S. Mariotti C, et al. Neurol Sci. 2001 Nov;22 Suppl 2:S88-92. doi: 10.1007/s100720100042. Neurol Sci. 2001. PMID: 11794486 Review.
Spinocerebellar syndromes are a heterogeneous group of neurological disorders clinically characterized by dysequilibrium, progressive incoordination of gait and limbs, and speech and eye movement disturbances. ...Clinical and genetic classifications of autosomal dom …
Spinocerebellar syndromes are a heterogeneous group of neurological disorders clinically characterized by dysequilibrium, progressive …
Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder.
Alvarez C, Grimmel M, Ebrahimi-Fakhari D, Paul VG, Deininger N, Riess A, Haack T, Gardella E, Møller RS, Bayat A. Alvarez C, et al. Clin Genet. 2023 May;103(5):566-573. doi: 10.1111/cge.14275. Epub 2023 Jan 11. Clin Genet. 2023. PMID: 36453471 Review.
Pathogenic variants in CWF19L1 lead to a rare autosomal recessive form of hereditary ataxia with only seven cases reported to date. Here, we describe four additional unrelated patients with biallelic variants in CWF19L1 (age range: 6-22 years) and prov …
Pathogenic variants in CWF19L1 lead to a rare autosomal recessive form of hereditary ataxia with only seven cases repor …
Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers.
Rezende Filho FM, Bremner F, Pedroso JL, de Andrade JBC, Marianelli BF, Lourenço CM, Marques-Júnior W, França MC Jr, Kok F, Sallum JMF, Parkinson MH, Barsottini OG, Giunti P. Rezende Filho FM, et al. Mov Disord. 2021 Sep;36(9):2027-2035. doi: 10.1002/mds.28612. Epub 2021 Apr 23. Mov Disord. 2021. PMID: 33893680
BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) causes unique retinal abnormalities, which have not been systematically investigated. OBJECTIVE: To deeply phenotype the retina in ARSACS in order to better understand its pathogen …
BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) causes unique retinal abnormalities, whi …
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 cerebellar a …
AFG3-like matrix AAA peptidase subunit 2 gene (AFG3L2, OMIM * 604,581) biallelic mutations lead to autosomal recessive spastic …
The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias.
Di Donato S, Gellera C, Mariotti C. Di Donato S, et al. Neurol Sci. 2001 Jun;22(3):219-28. doi: 10.1007/s100720100017. Neurol Sci. 2001. PMID: 11731874 Review.
Autosomal recessive ataxias are a heterogeneous group of rare neurodegenerative diseases characterized by early onset cerebellar ataxia associated with various neurologic, ophthalmologic and systemic signs. In comparison with autosomal dominant …
Autosomal recessive ataxias are a heterogeneous group of rare neurodegenerative diseases characterized by early onset c …
Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.
Chen J, Zhao Z, Shen H, Bing Q, Li N, Guo X, Hu J. Chen J, et al. BMC Neurol. 2022 May 16;22(1):180. doi: 10.1186/s12883-022-02708-z. BMC Neurol. 2022. PMID: 35578252 Free PMC article.
Patients with homocysteine remethylation disorders or Krabbe's disease or autosomal recessive spastic ataxia of Charlevoix-Saguenay had diagnostic results in laboratory or imaging examination. ...CONCLUSIONS: HSP had widespread clinical and genetic heterogene …
Patients with homocysteine remethylation disorders or Krabbe's disease or autosomal recessive spastic ataxia of Charlev …
Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra.
Ashrafi MR, Mohammadi P, Tavasoli AR, Heidari M, Hosseinpour S, Rasulinejad M, Rohani M, Akbari MG, Malamiri RA, Badv RS, Fathi D, Dehnavi AZ, Savad S, Rabbani A, Synofzik M, Mahdieh N, Rezaei Z. Ashrafi MR, et al. Cerebellum. 2023 Aug;22(4):640-650. doi: 10.1007/s12311-022-01430-3. Epub 2022 Jun 22. Cerebellum. 2023. PMID: 35731353
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS) is now increasingly identified from all countries over the world, possibly rendering it one of the most common autosomal recessive ataxias. Here, we selected patients harb …
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS) is now increasingly identified from all countries ov …
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Schüle R, Haack TB, Schöning M, Biskup S, Rudnik-Schöneborn S, Senderek J, Hoffmann KT, MacLeod P, Schwarz J, Bender B, Krüger S, Kreuz F, Bauer P, Schöls L. Synofzik M, et al. Orphanet J Rare Dis. 2013 Mar 15;8:41. doi: 10.1186/1750-1172-8-41. Orphanet J Rare Dis. 2013. PMID: 23497566 Free PMC article.
BACKGROUND: Mutations in SACS, leading to autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), have been identified as a frequent cause of recessive early-onset ataxia around the world. ...In contrast to its name "spastic ataxi …
BACKGROUND: Mutations in SACS, leading to autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), have been …
28 results