Artículos por temáticas

Biomarkers in functional movement disorders: a systematic review

Thomsen BLC, Teodoro T, Edwards MJ.

J Neurol Neurosurg Psychiatry. 2020 Dec;91(12):1261-1269. doi: 10.1136/jnnp-2020-323141. Epub 2020 Oct 21.

Combined dystonias: clinical and genetic updates

Weissbach A, Saranza G, Domingo A.

J Neural Transm (Vienna). 2020 Oct 24. doi: 10.1007/s00702-020-02269-w. Online ahead of print.

HEXA Disorders

Toro C, Shirvan L, Tifft C.

1999 Mar 11 [updated 2020 Oct 1]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020.

Tremor is a major feature of 9p13 deletion syndrome

Ferreira SI, Cinnirella G, Ramos L, Suppa A, Pires LM, Nardone AM, Camerota L, Lanciotti S, Galasso C, De Maio F, de Melo JB, Carreira IM, Brancati F.

Am J Med Genet A. 2020 Nov;182(11):2694-2698. doi: 10.1002/ajmg.a.61807. Epub 2020 Sep 8.

SCN8A splicing mutation causing skipping of the exon 15 associated with intellectual disability and cortical myoclonus

Canafoglia L, Franceschetti S, Granata T, Messina G, Solazzi R, Ragona F, Freri E, Scaioli V, Nardocci N, Gellera C, Panzica F, DiFrancesco JC, Castellotti B.

Seizure. 2020 Nov;82:56-58. doi: 10.1016/j.seizure.2020.09.011. Epub 2020 Sep 23.

High-Frequency Palatal Tremor and Stimulus-Sensitive Leg Myoclonus with Degeneration of Inferior Olivary Nuclei in Celiac Disease

Gupta DK, Viñuela A, Green PHR, Pitman MJ, Vonsattel JP, Fahn S.

Mov Disord Clin Pract. 2020 Sep 29;7(Suppl 3):S93-S95. doi: 10.1002/mdc3.13079. eCollection 2020 Sep.

Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency

Andelman-Gur MM, Saitsu H, Matsumoto N, Spiegel R, Yosovich K, Lev D, Lerman-Sagie T, Blumkin L.

Eur J Med Genet. 2020 Dec;63(12):104061. doi: 10.1016/j.ejmg.2020.104061. Epub 2020 Sep 3.

Movement disorders in the early-diagnosed cerebrotendinous xanthomatosis: An electrophysiological study

Aktuglu Zeybek C, Gunduz A, Enver EO, Tezen D, Kiykim E, Kızıltan ME.

Parkinsonism Relat Disord. 2020 Sep 5;80:12-14. doi: 10.1016/j.parkreldis.2020.09.002. Online ahead of print.

Tactile Temporal Discrimination Is Impaired in Myoclonus-Dystonia

Tarrano C, Lamy JC, Delorme C, McGovern EM, Atkinson-Clement C, Brochard V, Thobois S, Tranchant C, Grabli D, Degos B, Corvol JC, Pedespan JM, Krystkoviak P, Houeto JL, Degardin A, Defebvre L, Apartis

Mov Disord. 2020 Dec;35(12):2356-2357. doi: 10.1002/mds.28253. Epub 2020 Sep 22.

Prey with hidden colour defences benefit from their similarity to aposematic signals

Kim Y, Hwang Y, Bae S, Sherratt TN, An J, Choi SW, Miller JC, Kang C.

Proc Biol Sci. 2020 Sep 9;287(1934):20201894. doi: 10.1098/rspb.2020.1894. Epub 2020 Sep 9.

Factors influencing cognitive outcome in opsoclonus-myoclonus syndrome

Hukin J.

Dev Med Child Neurol. 2020 Dec;62(12):1349. doi: 10.1111/dmcn.14669. Epub 2020 Sep 25.

Brain paraneoplastic syndromes in a patient with mediastinal ganglioneuroma

Escudero-Fernandez JM, Garcia-Carpintero AS, Delgado-Alvarez I, Castellote-Alonso A, Vázquez-Mendez EJ.

Radiol Case Rep. 2020 Sep 2;15(11):2059-2062. doi: 10.1016/j.radcr.2020.08.010. eCollection 2020 Nov.

Test-retest reliability of prepulse inhibition paradigm using auditory evoked potentials

Takeuchi N, Kinukawa T, Sugiyama S, Inui K, Nishihara M.

Neurosci Res. 2020 Sep 25:S0168-0102(20)30445-4. doi: 10.1016/j.neures.2020.08.011. Online ahead of print.

Hashimoto's Encephalopathy Revealed by Hypochondriacal Delusion: A Case Report Involving a Male Patient

Amamou B, Ben Saida I, Ben Haouala A, Mhalla A, Zaafrane F, Gaha L.

Am J Mens Health. 2020 Sep-Oct;14(5):1557988320955080. doi: 10.1177/1557988320955080.

A novel SGCE variant is associated with myoclonus-dystonia with phenotypic variability

Delgado-Alvarado M, Matilla-Dueñas A, Altadill-Bermejo A, Setién S, Misiego-Peral M, Sánchez-de la Torre JR, Corral-Juan M, Riancho J.

Neurol Sci. 2020 Dec;41(12):3779-3781. doi: 10.1007/s10072-020-04718-6. Epub 2020 Sep 21.