Výsledky vyhledávání - "Alena, Zumrová"

Autor: Alena Zumrová, Martin Vyhnalek, Zuzana Musova, Eva Košťálová, Emílie Vyhnálková

Publikováno v: Neurologie pro praxi. 20:344-350

Dědicne cerebelarni ataxie jsou vzacnou přicinou poruch rovnovahy v dospělosti. V tomto clanku shrnujeme zakladni informaceo teto heterogenni skupině chorob s důrazem na klinickou diagnostiku a se zvlastnim zaměřenim na identifikaci lecitelný

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6aea8b6be84d114daf0256935344a9cf
https://doi.org/10.36290/neu.2019.139

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Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay–Sachs disease

Autor: Jitka Jireckova, Radim Mazanec, Alena Zumrová, Helena Poupětová, Eva Košťálová, Martin Magner, Hana Vlaskova, Petr Mečíř, Zuzana Musova, Helena Jahnová

Publikováno v: Journal of Neurology. 266:1953-1959

Tay–Sachs disease (TSD) is an inherited neurodegenerative disorder caused by a lysosomal β-hexosaminidase A deficiency due to mutations in the HEXA gene. The late-onset form of disease (LOTS) is considered rare, and only a limited number of cases

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80844c089d6efacd0aa328935b019340
https://doi.org/10.1007/s00415-019-09364-3

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Clinical dynamic visual acuity in patients with cerebellar ataxia and vestibulopathy

Autor: Silvia Kmetonyova, Alena Zumrová, Dylan J. Jester, Michaela Dankova, Martin Vyhnalek, Jaroslava Paulasová Schwabová, Rudolf Cerny, Jaroslav Jerabek

Publikováno v: PLoS ONE
PLoS ONE, Vol 16, Iss 7, p e0255299 (2021)

Deterioration of dynamic visual acuity (DVA) as a result of impaired vestibulo-ocular reflex (VOR) has been well described in peripheral vestibulopathies, however, changes in DVA in patients with degenerative cerebellar ataxias (CA) and its relation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ef5ca45b4d7f829f1b9917a3f65a621
https://doi.org/10.1371/journal.pone.0255299

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Cerebellar Symptoms Are Associated With Omission Errors and Variability of Response Time in Children With ADHD

Autor: Alena Zumrová, Jaroslava Paulasová Schwabová, Zdenek Hlavka, Michal Goetz, Robert Doyle, Radek Ptacek, Vladimír Hort

Publikováno v: Journal of Attention Disorders. 21:190-199

Objective: We examined the presence of cerebellar symptoms in ADHD and their association with behavioral markers of this disorder. Method: Sixty-two children with ADHD and 62 typically developing (TD) children were examined for cerebellar symptoms us

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a8d75757eed0719bc8388d621fc72ca
https://doi.org/10.1177/1087054713517745

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Application of a Scale for the Assessment and Rating of Ataxia (SARA) in Friedreich's ataxia patients according to posturography is limited

Autor: Jan Laczó, V. Komarek, Frantisek Zahalka, Zuzana Musova, Alena Zumrová, Jaroslava Paulasová Schwabová, Tomas Maly

Publikováno v: Journal of the Neurological Sciences. 341:64-67

A scale for the Assessment and Rating of Ataxia (SARA) was developed for evaluation of autosomal dominant cerebellar ataxias (ADCA) and was also recommended for clinical trials of Friedreich's ataxia patients (FRDA). FRDA, unlike ADCA, is characteriz

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b244343c9d1971690cde501dbe014292
https://doi.org/10.1016/j.jns.2014.04.001

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A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia

Autor: Zdenek Sedlacek, Regina Fillerova, Petr Kanovsky, Katerina Mensikova, Eva Kriegova, Alena Santava, Michaela Kaiserová, Alena Zumrová, Anna Krepelova, Peter Vasovčák, Zuzana Musova

Publikováno v: The Cerebellum. 13:331-337

Spinocerebellar ataxia type 28 (SCA28) is an autosomal dominant neurodegenerative disorder caused by missense AFG3L2 mutations. To examine the occurrence of SCA28 in the Czech Republic, we screened 288 unrelated ataxic patients with hereditary (N = 4

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b2fe775643fe87a30f79d98cdbb9239
https://doi.org/10.1007/s12311-013-0538-z

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Spinocerebellar Ataxias Type 8, 12, and 17 and Dentatorubro-Pallidoluysian Atrophy in Czech Ataxic Patients

Autor: Zuzana Musova, Zdenek Sedlacek, Pavlína Plevová, Anna Krepelova, Ludmila Apltová, Alena Zumrová, Martin Vyhnalek, Jiri Klempir, Marta Kopeckova, Jan Roth, Radim Mazanec

Publikováno v: The Cerebellum. 12:155-161

Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders currently associated with 27 genes. The most frequent types are caused by expansions in coding CAG repeats. The frequency of SCA subtypes varies among populations

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67b3ca6f4d2f29a5981ff5da59f4d51c
https://doi.org/10.1007/s12311-012-0403-5

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Uses of the postural stability test for differential diagnosis of hereditary ataxias

Autor: V. Komarek, Pavel Hrasky, Frantisek Zahalka, O. Cakrt, J. Schwabova, Alena Zumrová, Tomas Maly, Tomáš Gryc

Publikováno v: Journal of the neurological sciences. 316(1-2)

Friedreich's ataxia (FRDA) and spinocerebellar ataxia type 2 (SCA 2) are among the most commonly diagnosed hereditary ataxias in Czech Republic. Although criteria differentiate the ataxias, disorder onset symptoms may be similar. Our goal was to dete

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74c720725e1f3ec864dfc7bff7b8545b
https://pubmed.ncbi.nlm.nih.gov/22336696

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Cognitive changes in spinocerebellar ataxia type 2

Autor: Martin, Valis, Jirí, Masopust, Jan, Bažant, Zuzana, Ríhová, Dita, Kalnická, Aleš, Urban, Alena, Zumrová, Jakub, Hort

Publikováno v: Neuro endocrinology letters. 32(3)

Cognitive disorders and dementia occur in 19 to 42% of patients with spinocerebellar ataxia type 2 (SCA2). Neuropsychological tests can reveal executive dysfunction, impaired visual and verbal memory, tongue and speech impairment, attention disorders

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::70fcc4d8a73fc005ba641eb4bb358372
https://pubmed.ncbi.nlm.nih.gov/21712788

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