Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia

Shimojima, Keiko; Okumura, Akihisa; Natsume, Jun; Aiba, Kaori; Kurahashi, Hirokazu; Yokochi, Kenji; Yamamoto, Toshiyuki

doi:10.1016/j.braindev.2011.04.014

Cited by 25 publications

(30 citation statements)

References 10 publications

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“…32,33 Less commonly reported were paroxysmal nonkinesigenic dyskinesia, stiff person-like syndrome, akathisia, myokymia, stuttering, and tics. 32,[34][35][36][37] One SCA27 patient with PNKD differed clinically from patients with myofibrillogenesis regulator 1 gene mutations that frequently cause familial forms of this condition, by the development of mild mental retardation and lack of familial history. 36,38 One patient with SCA3 was described presenting with akathisia as the main neurological manifestation, which partially improved with clonazepan.…”

Section: Discussionmentioning

confidence: 99%

Movement Disorders in Autosomal Dominant Cerebellar Ataxias: A Systematic Review

Rossi

Pérez-Lloret

Cerquetti

et al. 2014

Movement Disord Clin Pract

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Autosomal dominant cerebellar ataxias (ADCAs) are clinically heterogeneous disorders classified according to genetic subtype and collectively known as SCAs. In a few SCAs, movement disorders can be the most frequent extracerebellar sign. The aim of this article is to perform a systematic review of movement disorders frequency and characteristics in ADCAs. This work consisted of a structured search of electronic databases up to January 2013. Publications containing descriptions of ADCA clinical features written in several languages were selected initially based on title and abstract screening, followed by full-text reading of potentially relevant publications. Clinical findings and demographic data on genetically confirmed patients were extracted. Analysis of individual patient data from subjects with movement disorders was performed using the chi-square test and logistic regression. One thousand and sixty-six publications reviewing 12,151 patients from 30 different SCAs were analyzed. Individual data were available from 755 patients with at least one type of movement disorder during overall disease course. Of 422 patients in whom onset symptom data were available, one third referred a movement disorder as the initial symptom. During overall disease course, parkinsonism was common in many SCA subtypes, frequently described in the absence of ataxia and characterized as responding to dopaminergic medications. Motor complications developed occasionally in some patients as did nigrostriatal imaging alterations. Other frequent features were dystonia, chorea, and myoclonus. Rare conditions, such as akathisia, paroxysmal nonkinesigenic dyskinesia, or stiff person-like syndrome, were also reported. ADCA descriptions included a full range of movement disorders. Aside from postural or intention tremor, dopamine-responsive parkinsonism and dystonia were the most common.

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Section: Discussionmentioning

confidence: 99%

Movement Disorders in Autosomal Dominant Cerebellar Ataxias: A Systematic Review

Rossi

Pérez-Lloret

Cerquetti

et al. 2014

Movement Disord Clin Pract

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“…One such site fell within an intronic region of FGF14 . Mutations within FGF14 are believed to cause spinocerebellar ataxia 27 (SCA 27) (50–54). Finally, we manually interrogated a fraction of the predicted recCas9 target sites that did not fall within genes to determine if some sequences fell within safe harbor loci.…”

Section: Resultsmentioning

confidence: 99%

A programmable Cas9-serine recombinase fusion protein that operates on DNA sequences in mammalian cells

et al. 2016

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We describe the development of ‘recCas9’, an RNA-programmed small serine recombinase that functions in mammalian cells. We fused a catalytically inactive dCas9 to the catalytic domain of Gin recombinase using an optimized fusion architecture. The resulting recCas9 system recombines DNA sites containing a minimal recombinase core site flanked by guide RNA-specified sequences. We show that these recombinases can operate on DNA sites in mammalian cells identical to genomic loci naturally found in the human genome in a manner that is dependent on the guide RNA sequences. DNA sequencing reveals that recCas9 catalyzes guide RNA-dependent recombination in human cells with an efficiency as high as 32% on plasmid substrates. Finally, we demonstrate that recCas9 expressed in human cells can catalyze in situ deletion between two genomic sites. Because recCas9 directly catalyzes recombination, it generates virtually no detectable indels or other stochastic DNA modification products. This work represents a step toward programmable, scarless genome editing in unmodified cells that is independent of endogenous cellular machinery or cell state. Current and future generations of recCas9 may facilitate targeted agricultural breeding, or the study and treatment of human genetic diseases.

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“…Only 6 distinct families, including 1 family with at least 14 affected individuals, have been reported in the literature with SCA27 as the result of confirmed abnormalities in FGF14 [1][2][3][4][11][12][13]. Most of these previously reported individuals have mutations in FGF14 and typically present with general cerebellar dysfunction including gait disturbances, tremors, mental retardation and/or developmental delay, dysarthria, and gaze-evoked nystagmus.…”

Section: Discussionmentioning

confidence: 99%

“…In two families the etiology is determined to be a translocation disrupting the FGF14 gene. The probands in these families present with symptoms at less than 1 year of age [4,12]. One male child presents with episodic involuntary movements including ataxia and tremors.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Infant Spinocerebellar Ataxia Type 27: Early Presentation Due To a 13q33.1 Microdeletion Involving the FGF14 Gene

Tucker¹,

Kalb²,

Escobar³

2013

J Genet Syndr Gene Ther

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Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia

Cited by 25 publications

References 10 publications

Movement Disorders in Autosomal Dominant Cerebellar Ataxias: A Systematic Review

Movement Disorders in Autosomal Dominant Cerebellar Ataxias: A Systematic Review

A programmable Cas9-serine recombinase fusion protein that operates on DNA sequences in mammalian cells

Infant Spinocerebellar Ataxia Type 27: Early Presentation Due To a 13q33.1 Microdeletion Involving the FGF14 Gene

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