Gaze Palsy: An Important Diagnostic Clue

A 30-month-old boy presented with global developmental delay and generalized dystonia since infancy. He was born to nonconsanguineous parents at term. He had a history of bilirubin encephalopathy requiring exchange blood transfusion on day 2 of life; maximum documented serum bilirubin was 20  mg/dL. On examination, he was hypotonic with intermittent dystonia involving all 4 limbs. He had a specific gaze restriction (Video; available at www.jpeds.com) that clinched the clinical diagnosis. Neuroimaging revealed bilateral globus pallidus hyperintensities (Figure).
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Tags: Rediscovering the Physical Exam Source Type: research

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We present a 12-year-old boy with a one and a half-year history of a slow, progressive gait disturbance. An MRI of his brain revealed T2, FLAIR bilateral symmetrical hypointensities in globus pallidus and substantia nigra s/o NBIA. His genetic analysis revealed a novel homozygous missense variation in exon 2 of the C19orf12 gene (chr19:30199203; A>C) that results in the amino acid substitution of valine for phenylalanine at codon 51 (p.F51V; ENST00000392278). This is consistent with the MPAN (mitochondrial membrane protein-associated neurodegeneration) subtype.
Source: Neurology India - Category: Neurology Authors: Source Type: research
AbstractSCA48 is a novel spinocerebellar ataxia (SCA) originally and recently characterized by prominent cerebellar cognitive-affective syndrome (CCAS) and late-onset ataxia caused by mutations on theSTUB1 gene. Here, we report the first SCA48 case from Turkey with novel clinical features and diffusion tensor imaging (DTI) findings, used for the first time to evaluate a SCA48 patient. A 65-year-old female patient with slowly progressive cerebellar ataxia, cognitive impairment, behavioral changes, and a vertical family history was evaluated. Following the exclusion of repeat expansion ataxias, whole exome sequencing (WES) w...
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research
Discussion Holoprosencephaly (HPE) is a clefting problem of the brain. “[HPE] the result of incomplete or absent midline division of the embryonic forebrain into distinct cerebral hemispheres (prosencephalon) between the 18th and 28th day after conception.” There are four distinct subtypes: Alobar – both hemispheres are completely fused and are not separated into the left and right hemispheres. There is agenesis of the corpus callosum, arrhinencephaly and a single ventricle with fused thalami. Facial features are almost always affected. Semilobar – the cerebral hemispheres are fused anteriorly bu...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
The objective of this systematic review is to provide a better understanding of HRQoL outcomes after DBS for dystonia. A search of the literature was conducted using Medline (PubMed), Embase, and Cochrane Library databases in May 2019.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Review article Source Type: research
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Felix-Julian Campos-Garcia, Oscar F. Chacon-Camacho, Silvina Contreras-Capetillo, Marisa Cruz-Aguilar, Carolina E. Medina-Escobedo, Claudia M. Moreno-Graciano, Agustín Rodas, Luz del Alba Herrera-Perez, Juan C. ZentenoAbstractBiallelic mutations of the GCDH gene result in Glutaric Aciduria type 1 (GA1; OMIM #231670), an uncommon autosomal recessive inborn error caused by the deficiency of glutaryl-CoA dehydrogenase (CCDH), a mitochondrial matrix protein involved in the degradation of l-lysine, L-hydroxylysine, and L...
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
ConclusionThe findings demonstrate that patients ’ QoL should routinely be assessed and monitored, as this may affect subsequent management. Further research will allow for more robust management of factors contributing to impaired QoL, aside from the physical defects found in dystonia.
Source: Journal of Neurology - Category: Neurology Source Type: research
This study aimed to evaluate the usefulness of [99mTc]sestamibi ([99mTc]MIBI) single photon emission computed tomography (SPECT)/X-ray computed tomography (CT) imaging for the identification of dystonic muscles in primary cervical dystonia (PCD) patients who underwent botulinum neurotoxin type A (BoNT-A) therapy.ProceduresThirty-six patients with PCD and 10 healthy subjects (control group) who underwent [99mTc]MIBI SPECT/CT were enrolled. The image characteristics of dystonic muscles and normal muscles were evaluated. Muscle/background ratio (MBR) of six representative muscles was calculated for dystonic muscles in PCD gro...
Source: Molecular Imaging and Biology - Category: Molecular Biology Source Type: research
Abstract Rapid-onset dystonia-parkinsonism (RDP) is a rare form of hereditary dystonia caused by loss-of-function mutations of the Na+/K+-ATPase α3 isoform (ATP1α3). An acute onset of generalized dystonia and parkinsonism after exposure to stress and an incomplete disease penetrance is described in RDP, thereby suggesting a gene-environmental interaction in individuals with a genetic predisposition for dystonia development. Dystonia is considered a central motor network disease and in line with this concept, alterations in cerebellar neuronal firing have been described in RDP mouse models, but the path...
Source: Experimental Neurology - Category: Neurology Authors: Tags: Exp Neurol Source Type: research
Condition:   Dystonia Intervention:   Other: Dystonia Coalition is an observational study. Sponsors:   University of Texas Southwestern Medical Center;   Emory University Terminated
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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