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The differential diagnosis of chorea.
Wild EJ, Tabrizi SJ. Wild EJ, et al. Pract Neurol. 2007 Nov;7(6):360-73. doi: 10.1136/pn.2007.134585. Pract Neurol. 2007. PMID: 18024776 Review.
In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the genetic syndromes that may resemble it, including HDL1-3, inherited prion disease, spinocerebellar ataxias 1, 3 and 17, neuroacanthocytosis, dentatorubro-pallidoluysian atr …
In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the genetic syndromes that may resem …
Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders.
Paucar M, Laffita-Mesa J, Niemelä V, Malmgren H, Nennesmo I, Lagerstedt-Robinson K, Nordenskjöld M, Svenningsson P. Paucar M, et al. J Neurol Sci. 2023 Aug 15;451:120707. doi: 10.1016/j.jns.2023.120707. Epub 2023 Jun 10. J Neurol Sci. 2023. PMID: 37379724 Free article.
RESULTS: The screening identified two patients with SCA17, one patient with IPD associated with 5-OPRI but none with nucleotide expansions in C9orf72 or for HDL2, SCA2 or SCA3. Furthermore, SGCE-myoclonic-dystonia 11 (SGCE-M-D) and benign hereditary chorea (B …
RESULTS: The screening identified two patients with SCA17, one patient with IPD associated with 5-OPRI but none with nucleotide expansions i …
Differential diagnosis of Huntington's disease: what the clinician should know.
Cardoso F. Cardoso F. Neurodegener Dis Manag. 2014;4(1):67-72. doi: 10.2217/nmt.13.78. Neurodegener Dis Manag. 2014. PMID: 24640980
Autosomal-dominant diseases that can mimic HD are HD-like 2, C9orf72 mutations, spinocerebellar ataxia type 2, spinocerebellar ataxia type 17 (HD-like 4), benign hereditary chorea, neuroferritinopathy (neurodegeneration with brain iron accumulation type 3), d …
Autosomal-dominant diseases that can mimic HD are HD-like 2, C9orf72 mutations, spinocerebellar ataxia type 2, spinocerebellar ataxia type 1 …
"Jerky" dystonia in children: spectrum of phenotypes and genetic testing.
Asmus F, Langseth A, Doherty E, Nestor T, Munz M, Gasser T, Lynch T, King MD. Asmus F, et al. Mov Disord. 2009 Apr 15;24(5):702-9. doi: 10.1002/mds.22426. Mov Disord. 2009. PMID: 19117362
Gait disorder, unsteadiness, or frequent falls before 18 months were detected in all SGCE mutation carriers, whereas the typical neck-predominant presentation developed only years later. (2) One patient classified as benign hereditary chorea, because jerks we …
Gait disorder, unsteadiness, or frequent falls before 18 months were detected in all SGCE mutation carriers, whereas the typical neck-predom …