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Quoted phrase not found in phrase index: "Dystonia with cerebellar atrophy"
Page 1
Spinocerebellar degenerations.
Perlman SL. Perlman SL. Handb Clin Neurol. 2011;100:113-40. doi: 10.1016/B978-0-444-52014-2.00006-9. Handb Clin Neurol. 2011. PMID: 21496573 Review.
The spinocerebellar ataxias (SCA) are a large group of inherited disorders affecting the cerebellum and its afferent and efferent pathways. ...Fragile X tremor-ataxia syndrome (FXTAS) and multiple-system atrophy (a sporadic ataxia which is felt to have a gene …
The spinocerebellar ataxias (SCA) are a large group of inherited disorders affecting the cerebellum and its afferent and effer …
Movement disorders in hereditary spastic paraplegias.
Pedroso JL, Vale TC, Freitas JL, Araújo FMM, Meira AT, Neto PB, França MC Junior, Tumas V, Teive HAG, Barsottini OGP. Pedroso JL, et al. Arq Neuropsiquiatr. 2023 Nov;81(11):1000-1007. doi: 10.1055/s-0043-1777005. Epub 2023 Nov 30. Arq Neuropsiquiatr. 2023. PMID: 38035585 Free PMC article. Review.
Myoclonus is rarely described in SPG, affecting patients with SPG4, SPG7, SPG35, SPG48, and SPOAN (spastic paraplegia, optic atrophy, and neuropathy). SPG4, SPG6, SPG10, SPG27, SPG30 and SPG31 may rarely present with ataxia with cerebellar atrophy. ...CONCLUS …
Myoclonus is rarely described in SPG, affecting patients with SPG4, SPG7, SPG35, SPG48, and SPOAN (spastic paraplegia, optic atrophy, …
Cerebellar Syndrome Associated with Thyroid Disorders.
Ercoli T, Defazio G, Muroni A. Ercoli T, et al. Cerebellum. 2019 Oct;18(5):932-940. doi: 10.1007/s12311-019-01059-9. Cerebellum. 2019. PMID: 31388971 Review.
Thyroid disorders, including hypothyroidism, hyperthyroidism and Hashimoto encephalopathy, are considered the most common cause of cerebellar dysfunction due to hormonal imbalance. ...When present, atrophy of vermis and often of both cerebellar hemisph …
Thyroid disorders, including hypothyroidism, hyperthyroidism and Hashimoto encephalopathy, are considered the most common cause of …
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
Traschütz A, Cortese A, Reich S, Dominik N, Faber J, Jacobi H, Hartmann AM, Rujescu D, Montaut S, Echaniz-Laguna A, Erer S, Schütz VC, Tarnutzer AA, Sturm M, Haack TB, Vaucamps-Diedhiou N, Puccio H, Schöls L, Klockgether T, van de Warrenburg BP, Paucar M, Timmann D, Hilgers RD, Gazulla J, Strupp M, Moris G, Filla A, Houlden H, Anheim M, Infante J, Basak AN, Synofzik M; RFC1 Study Group. Traschütz A, et al. Neurology. 2021 Mar 2;96(9):e1369-e1382. doi: 10.1212/WNL.0000000000011528. Epub 2021 Jan 25. Neurology. 2021. PMID: 33495376 Free PMC article.
OBJECTIVE: To delineate the full phenotypic spectrum, discriminative features, piloting longitudinal progression data, and sample size calculations of replication factor complex subunit 1 (RFC1) repeat expansions, recently identified as causing cerebellar ataxia, neuropath …
OBJECTIVE: To delineate the full phenotypic spectrum, discriminative features, piloting longitudinal progression data, and sample size calcu …
Pallidal degenerations and related disorders: an update.
Jellinger KA. Jellinger KA. J Neural Transm (Vienna). 2022 Jun;129(5-6):521-543. doi: 10.1007/s00702-021-02392-2. Epub 2021 Aug 7. J Neural Transm (Vienna). 2022. PMID: 34363531 Review.
They include a variety of both familial and sporadic progressive movement disorders, clinically manifesting as choreoathetosis, dystonia, Parkinsonism, akinesia or myoclonus, often associated with seizures, mental impairment and motor or cerebellar symptoms. …
They include a variety of both familial and sporadic progressive movement disorders, clinically manifesting as choreoathetosis, dy …
Neurological mitochondrial cytopathies.
Mehndiratta MM, Agarwal P, Tatke M, Krishnamurthy M. Mehndiratta MM, et al. Neurol India. 2002 Jun;50(2):162-7. Neurol India. 2002. PMID: 12134180 Free article.
The mitochondrial cytopathies are genetically and phenotypically heterogeneous group of disorders caused by structural and functional abnormalities in mitochondria. ...MRI brain showed multiple infarcts in MELAS, hyperintensities in putaminal areas in chorea and bilateral …
The mitochondrial cytopathies are genetically and phenotypically heterogeneous group of disorders caused by structural and functional …
Movement disorders in mitochondrial diseases.
Tranchant C, Anheim M. Tranchant C, et al. Rev Neurol (Paris). 2016 Aug-Sep;172(8-9):524-529. doi: 10.1016/j.neurol.2016.07.003. Epub 2016 Jul 28. Rev Neurol (Paris). 2016. PMID: 27476418 Review.
Mitochondrial diseases (MIDs) are a large group of heterogeneous disorders due to mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) genes, the latter encoding proteins involved in mitochondrial function. ...Other movement disorders are rarer (such …
Mitochondrial diseases (MIDs) are a large group of heterogeneous disorders due to mutations in either mitochondrial DNA (mtDNA) or nu …
Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.
Nibbeling EA, Delnooz CC, de Koning TJ, Sinke RJ, Jinnah HA, Tijssen MA, Verbeek DS. Nibbeling EA, et al. Neurosci Biobehav Rev. 2017 Apr;75:22-39. doi: 10.1016/j.neubiorev.2017.01.033. Epub 2017 Jan 28. Neurosci Biobehav Rev. 2017. PMID: 28143763 Free PMC article. Review.
The spinocerebellar ataxias are a group of neurodegenerative disorders characterized by coordination problems caused mainly by atrophy of the cerebellum. The dystonias are another group of neurological movement disorders linked to basal ganglia …
The spinocerebellar ataxias are a group of neurodegenerative disorders characterized by coordination problems caused mainly by atr …
Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.
Balint B, Bhatia KP. Balint B, et al. Eur J Neurol. 2015 Apr;22(4):610-7. doi: 10.1111/ene.12650. Epub 2015 Jan 29. Eur J Neurol. 2015. PMID: 25643588 Review.
Current terminology classifies conditions where dystonia is the sole motor feature (apart from tremor) as 'isolated dystonia', while 'combined dystonia' refers to dystonias with other accompanying movement disorders. ...Conversely, the phenotype …
Current terminology classifies conditions where dystonia is the sole motor feature (apart from tremor) as 'isolated dystonia', …
Autosomal Recessive Cerebellar Ataxias With Elevated Alpha-Fetoprotein: Uncommon Diseases, Common Biomarker.
Renaud M, Tranchant C, Koenig M, Anheim M. Renaud M, et al. Mov Disord. 2020 Dec;35(12):2139-2149. doi: 10.1002/mds.28307. Epub 2020 Oct 12. Mov Disord. 2020. PMID: 33044027 Free article. Review.
alpha-Fetoprotein (AFP) is a biomarker of several autosomal recessive cerebellar ataxias (ARCAs), especially ataxia telangiectasia (AT) and ataxia with oculomotor apraxia (AOA) type 2 (AOA2). ...Interestingly, AOA1, AOA2, AOA4, and AT are overlapping ARCAs characterized by …
alpha-Fetoprotein (AFP) is a biomarker of several autosomal recessive cerebellar ataxias (ARCAs), especially ataxia telangiectasia (A …
96 results