The clinical syndrome of dystonia with anarthria/aphonia

Ganos, Christos; Crowe, Belinda; Stamelou, María; Kresojević, Nikola; Lukić, Milica Ječmenica; Brás, José; Guerreiro, Rita; Taiwo, Funmilola T.; Balint, Bettina; Batla, Amit; Schneider, Susanne A.; Erro, Roberto; Svetel, Marina; Kostić, Vladimir; Kurian, Manju A.; Bhatia, Kailash P.

doi:10.1016/j.parkreldis.2016.01.022

Cited by 10 publications

(12 citation statements)

References 32 publications

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“…Dystonia parkinsonism is suggestive of mutations in PRKN and paroxysmal kinesigenic dyskinesia is suggestive of a PRRT2 mutation [28]. Furthermore, the syndrome of dystonia with anarthria may have a broad range of causes, including GM1 gangliosidosis, as previously described [29].…”

Section: Discussionmentioning

confidence: 54%

Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes

Kumar

Davis

Tchan

et al. 2019

Parkinsonism & Related Disorders

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Section: Discussionmentioning

confidence: 54%

Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes

Kumar

Davis

Tchan

et al. 2019

Parkinsonism & Related Disorders

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“…A 29‐year‐old Jamaican woman was evaluated at the neurology clinic due to inability to close her mouth since the age of 2 years (presented in brief in Ganos et al, 2016). Pregnancy and birth were uneventful and she had normal motor milestones.…”

Section: Case Historiesmentioning

confidence: 99%

“…The most frequent syndrome is bilateral perisylvian PMG that typically presents with epilepsy, intellectual disability, pseudobulbar, and pyramidal signs (Brandão‐Almeida et al, 2008; Guerrini et al, 2008; Guerrini & Dobyns, 2014; Jansen et al, 2005; Stutterd et al, 2005 /2018). Extrapyramidal features have rarely been described (Ganos et al, 2016).…”

Section: Introductionmentioning

confidence: 99%

“…The association of cortical development malformations with dystonia has rarely been described, and was reported in scarce cases of unilateral schizencephaly (Friedman & Stone, 1996; Marinelli, Bonzano, Saitta, Trompetto, & Abbruzzese, 2012) and regional pachygyria (Leuzzi, Ricciotti, & Pelliccia, 1993). Dystonia related to bilateral perisylvian PMG has been briefly mentioned in some cases; however, it was mainly highlighted in the syndromic association with anarthria/aphonia (Ganos et al, 2016).…”

Section: Introductionmentioning

confidence: 99%

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Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?

Andelman-Gur

Leventer

Hujirat

et al. 2020

American J of Med Genetics Pt A

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The clinical presentation of bilateral perisylvian polymicrogyria (PMG) is highly variable, including oromotor dysfunction, epilepsy, intellectual disability, and pyramidal signs. Extrapyramidal features are extremely rare. We present four apparently unrelated patients with a unique association of PMG with dystonia. The clinical, genetic, and radiologic features are described and possible mechanisms of dystonia are discussed. All patients were female and two were born to consanguineous families. All presented with early childhood onset dystonia. Other neurologic symptoms and signs classically seen in bilateral perisylvian PMG were observed, including oromotor dysfunction and speech abnormalities ranging from dysarthria to anarthria (4/4), pyramidal signs (3/4), hypotonia (3/4), postnatal microcephaly (1/4), and seizures (1/4). Neuroimaging showed a unique pattern of bilateral PMG with an infolded cortex originating primarily from the perisylvian region in three out of four patients. Whole exome sequencing was performed in two out of four patients and did not reveal pathogenic variants in known genes for cortical malformations or movement disorders. The dystonia seen in our patients is not described in bilateral PMG and suggests an underlying mechanism of impaired connectivity within the motor network or compromised cortical inhibition. The association of bilateral PMG with dystonia in our patients may represent a new neurogenetic disorder.

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“…Typische klinische Zeichen sind Entwicklungsverzögerungen, Spastik, Ataxie, Demenz, Anarthrie/Aphonie, Visusstörungen aufgrund von Optikusatrophie oder Retinadegeneration sowie Epilepsie. Die Kombination unterschiedlicher Zeichen ermöglicht es, bestimmte syndromale Assoziationen zu bilden, die an unterschiedliche Ätiologien denken lassen und somit den differenzialdiagnostischen Prozess erleichtern (35,36). Beispiele sind die NBIA-Spektrumerkrankungen (neurodegeneration with brain iron accumulation), die primären familiären Hirnkalzifikationen, komplexe hereditäre Spinalparalysen, Leukodystrophien und Mitochondriopathien.…”

Section: Komplexe Dystonienunclassified

Genetisch determinierte Dystonien

Brüggemann¹,

Lohmann²,

Paus³

et al. 2018

Nervenheilkunde

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ZusammenfassungDystonien sind durch anhaltende oder intermittierende Muskelkontraktionen gekennzeichnet, die zu abnormen, häufig repetitiven Bewegungen verschiedener Körperteile führen. Die Einteilung der Dystonien erfolgt nach klinischen und ätiologischen Kriterien, wobei insbesondere die Genetik durch die Identifikation neuer, mit der Krankheit assoziierter Gene an Bedeutung gewonnen hat.Innerhalb des Krankheitsbildes der Dystonie können folgende Formen voneinander unterschieden werden: bei den isolierten Formen bestehen keine über die Dystonie hinausgehenden Zeichen oder Symptome; kombinierte Dystonien zeichnen sich durch eine Kombination von Dystonie und anderen Bewegungsstörungen wie Parkinsonismus, Chorea und Myoklonien aus und bei den komplexen Dystonien finden sich weitere neurologische und nicht-neurologische Manifestationen. Mutationen in den folgenden Genen sind mittlerweile als etablierte Ursachen für isolierte oder kombinierte erbliche Dystonie identifiziert worden: Tor1A, THAP1, GNAL, ANO3, KMT2B, GCH1, TAF1, PRKRA, ATP1A3, SGCE und ADCY5; > 100 Gene stehen im Zusammenhang mit komplexen Dystonien. Viele, insbesondere auch einige genetisch bedingte Formen der Dystonien, sprechen auf die Therapieoption der tiefen Hirnstimulation gut an. Aktuell arbeiten Forschungsnetzwerke daran, die Diagnostik und Therapie der Dystonien weiter zu verbessern.

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The clinical syndrome of dystonia with anarthria/aphonia

Cited by 10 publications

References 32 publications

Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes

Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes

Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?

Genetisch determinierte Dystonien

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