Recessive NUP54 Variants Underlie Early‐Onset Dystonia with Striatal Lesions
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DOI: 10.1002/ana.26544
Abstract: Infantile striatonigral degeneration is caused by a homozygous variant of the nuclear‐pore complex (NPC) gene NUP62, involved in nucleo‐cytoplasmic trafficking. By querying sequencing‐datasets of patients with dystonia and/or Leigh(‐like) syndromes, we identified 3 unrelated individuals… read more here.
Keywords: recessive nup54; nup54 variants; onset dystonia; early onset ... See more keywords
PRKRAP1 Pseudogene Complicating the Diagnosis of Young‐Onset Dystonia Due to PRKRA Gene Disease‐Causing Variants (DYT‐PRKRA)
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13426
Abstract: A genetic etiology of isolated dystonia is suspected if there is an early-onset dystonia or a positive family history. However, the cur-rent overall yield of a genetic etiological diagnosis remains below 30%. 1 We present… read more here.
Keywords: diagnosis; prkrap1 pseudogene; pseudogene complicating; onset dystonia ... See more keywords
Mutations in the VPS16 Gene in 56 Early‐Onset Dystonia Patients
Sign Up to like & getrecommendations! Published in 2021 at "Movement Disorders"
DOI: 10.1002/mds.28540
Abstract: Dystonia is unusual, repetitive movements, postures, or both and is caused by sustained or episodic muscle contractions. Dystonia with childhood onset is often genetically determined. Recently, VPS16 has been identified as a causative gene for… read more here.
Keywords: onset dystonia; early onset; gene early; dystonia ... See more keywords
A Portuguese rapid-onset dystonia-parkinsonism case with atypical features
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DOI: 10.1007/s10072-017-2996-4
Abstract: Dear Editor, Rapid-onset dystonia-parkinsonism (DYT/PARK-ATP1A3, formerly known as DYT12) is a combined dystonia syndrome rarely encountered in clinical practice [1]. Recent reports have expanded the clinical presentation beyond the classical phenotype and there is increasing… read more here.
Keywords: onset dystonia; dystonia parkinsonism; rapid onset; dystonia ... See more keywords
Adult onset dystonia: A disorder of the collicular–pulvinar–amygdala network
Sign Up to like & getrecommendations! Published in 2021 at "Cortex"
DOI: 10.1016/j.cortex.2021.05.010
Abstract: Models attempting to explain the pathogenesis of adult onset idiopathic focal dystonia often fail to accommodate the entire spectrum of this disorder: the diverse motor and non-motor symptoms, psychiatric and cognitive dysfunction, as well as… read more here.
Keywords: onset dystonia; adult; adult onset; network ... See more keywords
PLA2G6 mutations cause motor dysfunction phenotypes of young-onset dystonia–parkinsonism type 14 and can be relieved by DHA treatment in animal models
Sign Up to like & getrecommendations! Published in 2021 at "Experimental Neurology"
DOI: 10.1016/j.expneurol.2021.113863
Abstract: Parkinson's disease (PD), the most common neurodegenerative motor disorder, is currently incurable. Although many studies have provided insights on the substantial influence of genetic factors on the occurrence and development of PD, the molecular mechanism… read more here.
Keywords: onset dystonia; parkinsonism type; dystonia parkinsonism; pla2g6 mutations ... See more keywords
Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy.
Sign Up to like & getrecommendations! Published in 2021 at "Mitochondrion"
DOI: 10.1016/j.mito.2020.12.014
Abstract: Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities is an extremely rare autosomal recessive mitochondrial disease caused by biallelic mutations in MECR. Using whole-exome sequencing, we identified a novel homozygous MECR mutation (c.910G>T, p.Asp304Tyr)… read more here.
Keywords: onset dystonia; childhood onset; ganglia abnormalities; optic atrophy ... See more keywords
Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity
Sign Up to like & getrecommendations! Published in 2020 at "Neurobiology of Disease"
DOI: 10.1016/j.nbd.2020.105012
Abstract: Heterozygous mutations in the ATP1A3 gene, coding for an alpha subunit isoform (α3) of Na+/K+-ATPase, are the primary genetic cause for rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (AHC). Recently, cerebellar ataxia, areflexia, pes… read more here.
Keywords: onset dystonia; childhood; rapid onset; disease ... See more keywords
Recent genetic advances in early-onset dystonia.
Sign Up to like & getrecommendations! Published in 2020 at "Current Opinion in Neurology"
DOI: 10.1097/wco.0000000000000831
Abstract: PURPOSE OF REVIEW The discovery of new disease-causing genes and availability of next-generation sequencing platforms have both progressed rapidly over the last few years. For the practicing neurologist, this presents an increasingly bewildering array both… read more here.
Keywords: onset dystonia; advances early; early onset; gene discovery ... See more keywords
Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations
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DOI: 10.1212/nxg.0000000000000562
Abstract: Mutations in ATP1A3, which encodes the α3 subunit of Na, K-ATPase, produce various neurologic and psychological disorders that are increasingly believed to be on a continuum, from severe infantile presentations to adult-onset movement disorders. We… read more here.
Keywords: onset dystonia; rapid onset; dystonia parkinsonism; atp1a3 ... See more keywords
Early-Onset Dystonia, Exacerbation With Fever, and Striatal Signal Changes
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DOI: 10.1212/wnl.0000000000200858
Abstract: A 6-year-old boy from Maharashtra, India, presented with subacute-onset generalized dystonia after a febrile illness; his sister manifested insidious-onset multifocal dystonia (Video 1). T2-weighted MRI showed striatal hyperintensities (Figure 1). Clinical exome sequencing detected a… read more here.
Keywords: dystonia exacerbation; early onset; onset dystonia; fever striatal ... See more keywords