Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation

Marcé‐Grau, Anna; Correa, Marta; Vanegas, Maria; Muñoz-Ruiz, Teresa; Ferrer-Aparicio, Silvia; Baide, H.; Macaya, Alfons; Pérez‐Dueñas, Belén

doi:10.1016/j.parkreldis.2019.01.004

Cited by 36 publications

(20 citation statements)

References 7 publications

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“…KCTD17 (c.434G > A, p.Arg145His) was the only segregating variant among seven candidates from affected myoclonus‐dystonia patients in the British family . Very recently, two additional KCTD17 mutations affecting the same splice acceptor site (c.508‐2A > T and c.508‐1G > T) were identified in two independent studies . It has been pointed out that the clinical features of the KCTD17 patients are phenotypically distinguishable from MDS due to SGCE mutations .…”

Section: Kctd Genes Associated With Neurodevelopmental and Neuropsychmentioning

confidence: 99%

KCTD: A new gene family involved in neurodevelopmental and neuropsychiatric disorders

et al. 2019

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The underlying molecular basis for neurodevelopmental or neuropsychiatric disorders is not known. In contrast, mechanistic understanding of other brain disorders including neurodegeneration has advanced considerably. Yet, these do not approach the knowledge accrued for many cancers with precision therapeutics acting on well‐characterized targets. Although the identification of genes responsible for neurodevelopmental and neuropsychiatric disorders remains a major obstacle, the few causally associated genes are ripe for discovery by focusing efforts to dissect their mechanisms. Here, we make a case for delving into mechanisms of the poorly characterized human KCTD gene family. Varying levels of evidence support their roles in neurocognitive disorders ( KCTD3 ), neurodevelopmental disease ( KCTD7 ), bipolar disorder ( KCTD12 ), autism and schizophrenia ( KCTD13 ), movement disorders ( KCTD17 ), cancer ( KCTD11 ), and obesity ( KCTD15 ). Collective knowledge about these genes adds enhanced value, and critical insights into potential disease mechanisms have come from unexpected sources. Translation of basic research on the KCTD‐related yeast protein Whi2 has revealed roles in nutrient signaling to mTORC1 (KCTD11) and an autophagy‐lysosome pathway affecting mitochondria (KCTD7). Recent biochemical and structure‐based studies (KCTD12, KCTD13, KCTD16) reveal mechanisms of regulating membrane channel activities through modulation of distinct GTPases. We explore how these seemingly varied functions may be disease related.

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Section: Kctd Genes Associated With Neurodevelopmental and Neuropsychmentioning

confidence: 99%

KCTD: A new gene family involved in neurodevelopmental and neuropsychiatric disorders

et al. 2019

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“…Although considered a sporadic synucleinopathy, genetic variants associated with increased risk of multiple system atrophy (MSA) are being increasingly reported. [1][2][3] Here we describe the first neuropathology-confirmed case of MSA with the G2019S LRRK2 mutation, thus expanding the phenotypic spectrum of LRRK2-associated synucleinopathies.…”

Section: Early-onset Pathologically Proven Multiple System Atrophy Wimentioning

confidence: 99%

Myoclonus‐dystonia caused by GNB1 mutation responsive to deep brain stimulation

et al. 2019

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“…No improvement was noted [27][28][29][30][31] DYT26 KCDT17 Improvement was reported in sporadic cases [32,33] DYT28 KMT2B All patients showed clinical benefits [24][25][26][27][28][29][30][31][32][33][34][35][36][37]…”

Section: Atp1a3mentioning

confidence: 93%

Deep brain stimulation for early-onset dystonia

Wen

Yang

Bao

2019

Brain Science Advances

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Deep brain stimulation (DBS) is considered as a treatment option for many neurological diseases. Many patients with movement disorders exhibit remarkable improvement after DBS. Owing to its minimally invasive nature, reversibility, and adjustability, DBS has been increasingly used over the past several decades. Dystonia is one of the most common movement disorders among children, and there is no effective treatment. Recently, some surgeon groups have performed DBS surgery for children. However, the outcomes of DBS in children are not well characterized. Here we mainly discuss the efficacy of DBS against childhood-onset dystonia and introduce the main procedure of pediatric DBS based on our own experience.

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Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation

Cited by 36 publications

References 7 publications

KCTD: A new gene family involved in neurodevelopmental and neuropsychiatric disorders

KCTD: A new gene family involved in neurodevelopmental and neuropsychiatric disorders

Myoclonus‐dystonia caused by GNB1 mutation responsive to deep brain stimulation

Deep brain stimulation for early-onset dystonia

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