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Homozygous DNAJC6 Mutated Juvenile Onset Dystonia-Parkinsonism Is Responsive to Pallidal Deep Brain Stimulation.
Mov Disord Clin Pract
December 2024
Oxford Functional Neurosurgery, John Radcliffe Hospital, Oxford, UK.
Juvenile-onset dystonia with spasticity in Leigh syndrome caused by a novel NDUFA10 variant.
Parkinsonism Relat Disord
November 2022
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. Electronic address:
IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder.
Eur J Hum Genet
December 2021
Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
The aetiology of dystonia disorders is complex, and next-generation sequencing has become a useful tool in elucidating the variable genetic background of these diseases. Here we report a deleterious heterozygous truncating variant in the inosine monophosphate dehydrogenase gene (IMPDH2) by whole-exome sequencing, co-segregating with a dominantly inherited dystonia-tremor disease in a large Finnish family. We show that the defect results in degradation of the gene product, causing IMPDH2 deficiency in patient cells.
View Article and Find Full Text PDFBiallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.
J Clin Invest
April 2021
Department of Cellular and Molecular Physiology and Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, California, USA.
Dystonia is a debilitating hyperkinetic movement disorder, which can be transmitted as a monogenic trait. Here, we describe homozygous frameshift, nonsense, and missense variants in TSPOAP1, which encodes the active-zone RIM-binding protein 1 (RIMBP1), as a genetic cause of autosomal recessive dystonia in 7 subjects from 3 unrelated families. Subjects carrying loss-of-function variants presented with juvenile-onset progressive generalized dystonia, associated with intellectual disability and cerebellar atrophy.
View Article and Find Full Text PDFPathogenic Variant in , p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation.
Case Rep Genet
April 2017
Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
encodes the -actin, and pathogenic variations in this gene have typically been associated with Baraitser-Winter cerebrofrontofacial syndrome, a congenital malformation syndrome characterized by short stature, craniofacial anomalies, and cerebral anomalies. Here, we describe the third case with the p.Arg183Trp variant in causing juvenile-onset dystonia.
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